MCID: SMT004
MIFTS: 68

Smith-Lemli-Opitz Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Respiratory diseases

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Rsh Syndrome 57 24 53 25 59 75
Slos 57 24 53 25 59 75
Slo Syndrome 57 24 53 25 75
Rutledge Lethal Multiple Congenital Anomaly Syndrome 57 12 53 75
7-Dehydrocholesterol Reductase Deficiency 53 25 59 73
Lethal Acrodysgenital Syndrome 57 53
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 53
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 57
Smith-Lemli-Opitz Syndrome, Type Ii 73
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
estimated incidence 1/20,000 - 1/40,000


HPO:

32
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 270400
Disease Ontology 12 DOID:14692
ICD10 33 E78.72
MeSH 44 D019082
NCIt 50 C85071
SNOMED-CT 68 43929004
Orphanet 59 ORPHA818
MESH via Orphanet 45 D019082
UMLS via Orphanet 74 C0175694 C2713347
ICD10 via Orphanet 34 Q87.1
KEGG 37 H00161
SNOMED-CT via HPO 69 204962002 82525005 258211005 more

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 57 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). (270400)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to xanthomatosis and heart disease, and has symptoms including constipation, seizures and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are hypertelorism and short neck

UniProtKB/Swiss-Prot : 75 Smith-Lemli-Opitz syndrome: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

NIH Rare Diseases : 53 Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern.

Genetics Home Reference : 25 Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).

Wikipedia : 76 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error... more...

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

Diseases related to Smith-Lemli-Opitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 73, show less)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.4 APOE HMGCR LDLR
2 heart disease 28.3 ABCA1 APOE HMGCR LDLR
3 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.4
4 lathosterolosis 11.8
5 opitz gbbb syndrome, type i 11.6
6 van buchem disease 11.4
7 greenberg dysplasia 11.4
8 retinitis 10.7
9 retinal degeneration 10.6
10 hirschsprung disease 1 10.5
11 autism 10.5
12 polydactyly 10.5
13 cataract 10.5
14 holoprosencephaly 10.5
15 aging 10.4
16 autism spectrum disorder 10.4
17 neuronitis 10.4
18 malignant hyperthermia 10.4
19 x-linked chondrodysplasia punctata 10.3 SHH STS
20 pallister-hall syndrome 10.2
21 pancreas, annular 10.2
22 down syndrome 10.2
23 renal hypodysplasia/aplasia 1 10.2
24 cerebrotendinous xanthomatosis 10.2
25 chondrodysplasia punctata syndrome 10.2
26 hydrolethalus syndrome 1 10.2
27 pseudotrisomy 13 syndrome 10.2
28 chromosome 16p13.3 deletion syndrome, proximal 10.2
29 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
30 pulmonary hypertension 10.2
31 hepatitis 10.2
32 sclerocornea 10.2
33 cholestasis 10.2
34 polyneuropathy 10.2
35 hypothyroidism 10.2
36 cerebritis 10.2
37 pseudohermaphroditism 10.2
38 conjunctivitis 10.2
39 achalasia 10.2
40 type i 10.2
41 5-alpha reductase deficiency 10.2
42 dwarfism 10.2
43 germ cells tumors 10.2
44 precocious puberty 10.2
45 pulmonary vein stenosis 10.2
46 mixed germ cell tumor 10.2
47 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 10.2
48 renal dysplasia 10.2
49 sitosterolemia 10.0 FDFT1 HMGCR
50 hypoalphalipoproteinemia, primary 9.9 ABCA1 LDLR
51 hemorrhage, intracerebral 9.7 APOE HMGCR
52 hypercholesterolemia, autosomal dominant, type b 9.7 APOE LDLR
53 lipoprotein glomerulopathy 9.7 APOE LDLR
54 hypobetalipoproteinemia, familial, 1 9.7 APOE LDLR
55 hypolipoproteinemia 9.6 ABCA1 APOE
56 arcus corneae 9.4 APOE LDLR
57 defective apolipoprotein b-100 9.4 APOE HMGCR LDLR
58 homozygous familial hypercholesterolemia 9.4 APOE HMGCR LDLR
59 hyperlipoproteinemia, type iii 9.4 APOE HMGCR LDLR
60 coronary heart disease 1 9.4 APOE HMGCR LDLR
61 familial hyperlipidemia 9.4 APOE HMGCR LDLR
62 cerebral amyloid angiopathy, cst3-related 9.3 ABCA1 APOE
63 lipid metabolism disorder 9.3 APOE HMGCR LDLR
64 aortic atherosclerosis 9.2 ABCA1 APOE LDLR
65 hyperalphalipoproteinemia 1 9.1 ABCA1 APOE LDLR
66 arteries, anomalies of 9.1 ABCA1 APOE LDLR
67 atherosclerosis susceptibility 9.1 ABCA1 APOE LDLR
68 macular degeneration, age-related, 1 9.0 ABCA1 APOE KCNMA1
69 lecithin:cholesterol acyltransferase deficiency 9.0 APOE LDLR
70 hypercholesterolemia, familial 8.8 ABCA1 APOE HMGCR LDLR
71 vascular disease 8.7 ABCA1 APOE HMGCR LDLR
72 coronary artery anomaly 8.7 ABCA1 APOE HMGCR LDLR
73 myocardial infarction 8.6 ABCA1 APOE HMGCR LDLR

Graphical network of the top 20 diseases related to Smith-Lemli-Opitz Syndrome:



Diseases related to Smith-Lemli-Opitz Syndrome

Symptoms & Phenotypes for Smith-Lemli-Opitz Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Neurologic Central Nervous System:
hydrocephalus
seizures
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Abdomen Gastrointestinal:
constipation
vomiting
pyloric stenosis
poor suck
malrotation

Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Head And Neck Mouth:
cleft palate
hypoplastic tongue
broad alveolar margins

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta

Skeletal Feet:
metatarsus adductus
talipes calcaneovalgus
postaxial polydactyly
short, broad toes
syndactyly of second and third toes
more
Skeletal Pelvis:
hip dislocation
hip subluxation

Head And Neck Teeth:
dental crowding
large central front teeth

Skin Nails Hair Skin:
eczema
facial capillary hemangioma
severe photosensitivity

Genitourinary Ureters:
ureteropelvic junction obstruction

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
bifid scrotum
micropenis
hypoplastic scrotum
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Prenatal Manifestations Movement:
decreased fetal movement

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Respiratory Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Growth Weight:
birth weight <2500gm

Skin Nails Hair Hair:
blonde hair


Clinical features from OMIM:

270400

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

59 32 (showing 156, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
11 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
12 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
15 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
16 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
17 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
18 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
19 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
20 short stature 59 32 Very frequent (99-80%) HP:0004322
21 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
22 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
23 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
24 abnormality of the gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005264
25 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
26 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
27 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
28 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
29 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
30 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
31 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
32 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
33 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
34 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
35 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
36 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
37 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
38 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
39 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
40 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
41 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
42 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
43 abnormality of the eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000499
44 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
45 hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0005599
46 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
47 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
48 rhizomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008905
49 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
50 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
51 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
52 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
53 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
54 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
55 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
56 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
57 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
58 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
59 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
60 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
61 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
62 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
63 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
64 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
65 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
66 tracheal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002777
67 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
68 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
69 increased nuchal translucency 59 32 hallmark (90%) Very frequent (99-80%) HP:0010880
70 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
71 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
72 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
73 sclerocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000647
74 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
75 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
76 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
77 ulnar deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009465
78 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
79 proximal placement of thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009623
80 ureteropelvic junction obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000074
81 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
82 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
83 advanced eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006288
84 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
85 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
86 postaxial foot polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001830
87 atrioventricular canal defect 59 32 frequent (33%) Frequent (79-30%) HP:0006695
88 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
89 cutis marmorata 59 32 frequent (33%) Frequent (79-30%) HP:0000965
90 abnormal lung lobation 59 32 frequent (33%) Frequent (79-30%) HP:0002101
91 aplasia/hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0006501
92 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
93 excessive daytime somnolence 59 32 frequent (33%) Frequent (79-30%) HP:0001262
94 2-3 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004691
95 gastroschisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001543
96 mesomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003027
97 abnormality of the larynx 59 32 frequent (33%) Frequent (79-30%) HP:0001600
98 bifid tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010297
99 microglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000171
100 talipes calcaneovalgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001884
101 facial capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0000996
102 elevated 7-dehydrocholesterol 59 32 hallmark (90%) Very frequent (99-80%) HP:0010569
103 low-set ears 32 HP:0000369
104 hydrocephalus 32 HP:0000238
105 precocious puberty 32 HP:0000826
106 failure to thrive 32 HP:0001508
107 constipation 32 HP:0002019
108 sleep disturbance 59 Frequent (79-30%)
109 hearing impairment 32 HP:0000365
110 depressed nasal bridge 32 HP:0005280
111 vomiting 32 HP:0002013
112 malformation of the heart and great vessels 59 Frequent (79-30%)
113 micromelia 32 HP:0002983
114 broad alveolar ridges 32 HP:0000187
115 metatarsus adductus 32 HP:0001840
116 epiphyseal stippling 32 HP:0010655
117 growth delay 59 Very frequent (99-80%)
118 recurrent otitis media 32 HP:0000403
119 coarctation of aorta 32 HP:0001680
120 short toe 32 HP:0001831
121 cholestatic liver disease 32 HP:0002611
122 dental crowding 32 HP:0000678
123 renal hypoplasia 32 HP:0000089
124 intestinal malrotation 32 HP:0002566
125 aggressive behavior 32 HP:0000718
126 eczema 32 HP:0000964
127 decreased fetal movement 32 HP:0001558
128 bifid scrotum 32 HP:0000048
129 dandy-walker malformation 32 HP:0001305
130 premature birth 32 HP:0001622
131 hypoplasia of the corpus callosum 32 HP:0002079
132 scrotal hypoplasia 32 HP:0000046
133 micropenis 32 HP:0000054
134 hyperactivity 32 HP:0000752
135 hammertoe 32 HP:0001765
136 clitoromegaly 59 Frequent (79-30%)
137 renal agenesis 32 HP:0000104
138 renal cyst 32 HP:0000107
139 poor suck 32 HP:0002033
140 bicornuate uterus 32 HP:0000813
141 generalized hypotonia 32 HP:0001290
142 posteriorly rotated ears 32 HP:0000358
143 hypocholesterolemia 32 HP:0003146
144 short thumb 32 HP:0009778
145 septate vagina 32 HP:0001153
146 breech presentation 32 HP:0001623
147 clitoral hypertrophy 32 frequent (33%) HP:0008665
148 narrow forehead 32 HP:0000341
149 periventricular gray matter heterotopia 32 HP:0007165
150 self-mutilation 32 HP:0000742
151 overlapping toe 32 HP:0001845
152 hypoplasia of the frontal lobes 32 HP:0007333
153 gastrointestinal dysmotility 32 HP:0002579
154 sleep-wake cycle disturbance 32 HP:0006979
155 hip subluxation 32 HP:0030043
156 severe photosensitivity 32 HP:0007537

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


constipation, seizures, vomiting

GenomeRNAi Phenotypes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

26 (showing 3, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.46 ABCA1 APOE HMGCR LDLR
2 Reduced mammosphere formation GR00396-S 9.02 DHCR7 FDFT1 HMGCR LDLR SHH
3 Increased LDL uptake GR00340-A-1 8.96 APOE LDLR

MGI Mouse Phenotypes related to Smith-Lemli-Opitz Syndrome:

46 (showing 8, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 KCNMA1 LDLR SHH ABCA1 APOE DHCR7
2 cardiovascular system MP:0005385 9.91 SHH ABCA1 APOE DHCR7 KCNMA1 LDLR
3 digestive/alimentary MP:0005381 9.88 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
4 mortality/aging MP:0010768 9.86 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
5 liver/biliary system MP:0005370 9.8 ABCA1 APOE DHCR7 HMGCR LDLR SHH
6 muscle MP:0005369 9.63 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
7 nervous system MP:0003631 9.5 ABCA1 APOE DHCR7 FDFT1 KCNMA1 LDLR
8 renal/urinary system MP:0005367 9.02 ABCA1 APOE DHCR7 KCNMA1 SHH

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

Drugs for Smith-Lemli-Opitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 12, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Anticholesteremic Agents Phase 2,Not Applicable
5 Antimetabolites Phase 2,Not Applicable
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
7 Hypolipidemic Agents Phase 2,Not Applicable
8 Lipid Regulating Agents Phase 2,Not Applicable
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Phytosterol Nutraceutical Phase 1, Phase 2,Not Applicable

Interventional clinical trials:

(showing 14, show less)
# Name Status NCT ID Phase Drugs
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
6 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
7 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
8 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
9 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
10 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
11 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
12 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
13 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
14 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

Genetic tests related to Smith-Lemli-Opitz Syndrome:

# Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 29 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

41
Lung, Kidney, Heart, Eye, Skin, Bone, Tongue

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(showing 465, show less)
# Title Authors Year
1
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. ( 29455191 )
2018
2
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. ( 29979914 )
2018
3
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
4
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
5
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
6
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
7
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
8
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
9
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
10
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
11
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
12
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
13
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
14
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
15
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
16
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
17
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
18
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
19
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
20
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. ( 27526097 )
2016
21
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/I^-catenin defects in neuronal cholesterol synthesis phenotypes. ( 26998835 )
2016
22
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
23
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
24
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
25
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
26
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
27
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
28
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
29
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
30
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. ( 26492708 )
2015
31
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. ( 26347274 )
2015
32
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
33
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
34
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
35
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
36
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
37
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
38
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
39
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
40
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
41
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
42
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
43
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
44
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
45
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
46
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
47
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. ( 23828810 )
2013
48
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. ( 23319240 )
2013
49
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). ( 23595802 )
2013
50
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. ( 23422574 )
2013
51
Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(I93-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. ( 23500538 )
2013
52
An efficient synthesis of 4I+- and 4I^-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. ( 23920082 )
2013
53
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
54
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. ( 23072947 )
2013
55
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
56
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. ( 24296449 )
2013
57
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. ( 22718275 )
2013
58
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. ( 22929031 )
2013
59
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. ( 23361583 )
2013
60
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 23979708 )
2013
61
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? ( 24533230 )
2013
62
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2013
63
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. ( 23022980 )
2013
64
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. ( 23918729 )
2013
65
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. ( 23859856 )
2013
66
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. ( 23541496 )
2013
67
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. ( 23321614 )
2013
68
Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene. ( 22120730 )
2012
69
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. ( 23059950 )
2012
70
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. ( 22226660 )
2012
71
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. ( 22438180 )
2012
72
Smith-Lemli-Opitz syndrome among Arabs. ( 21696385 )
2012
73
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. ( 22391996 )
2012
74
Smith-Lemli-Opitz-syndrome. ( 23162303 )
2012
75
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. ( 23042642 )
2012
76
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. ( 23042602 )
2012
77
DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. ( 22182693 )
2012
78
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. ( 23042573 )
2012
79
Growth charts for individuals with Smith-Lemli-Opitz syndrome. ( 22615010 )
2012
80
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. ( 23293579 )
2012
81
Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. ( 23042585 )
2012
82
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. ( 22211794 )
2012
83
Mutational spectrum of Smith-Lemli-Opitz syndrome. ( 23042628 )
2012
84
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. ( 23426833 )
2012
85
A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome. ( 22985726 )
2012
86
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. ( 21402677 )
2011
87
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. ( 21724437 )
2011
88
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. ( 21817059 )
2011
89
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. ( 21626671 )
2011
90
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. ( 21864209 )
2011
91
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 21595006 )
2011
92
Smith-Lemli-Opitz syndrome. ( 21777499 )
2011
93
Adrenal function in Smith-Lemli-Opitz syndrome. ( 21990131 )
2011
94
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 20014133 )
2010
95
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. ( 20635399 )
2010
96
Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. ( 20349543 )
2010
97
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). ( 20440536 )
2010
98
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. ( 20104611 )
2010
99
Idiopathic persistent pulmonary hypertension in an infant with Smith-Lemli-Opitz syndrome. ( 21043560 )
2010
100
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 20804844 )
2010
101
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. ( 20238050 )
2010
102
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. ( 20702862 )
2010
103
Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome. ( 20147702 )
2010
104
Smith-Lemli-Opitz syndrome: autopsy with new morphological findings. ( 21284323 )
2010
105
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. ( 19365639 )
2010
106
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? ( 20556518 )
2010
107
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. ( 20067919 )
2010
108
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. ( 20052364 )
2010
109
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. ( 20670678 )
2010
110
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. ( 19101685 )
2009
111
What's Your Diagnosis? - Smith-Lemli-Opitz syndrome. ( 19928734 )
2009
112
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. ( 19452638 )
2009
113
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. ( 19430384 )
2009
114
[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. ( 19856245 )
2009
115
[Prenatal diagnosis of Smith-Lemli-Opitz syndrome--case report]. ( 19943544 )
2009
116
Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 19406241 )
2009
117
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. ( 19390132 )
2009
118
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. ( 18076100 )
2008
119
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. ( 18775956 )
2008
120
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. ( 17965227 )
2008
121
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. ( 18381059 )
2008
122
Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. ( 19096116 )
2008
123
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. ( 18285838 )
2008
124
Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. ( 19886368 )
2008
125
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. ( 18442819 )
2008
126
Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. ( 17378665 )
2008
127
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 18556335 )
2008
128
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. ( 18776762 )
2008
129
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. ( 18346920 )
2008
130
Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species. ( 18182048 )
2008
131
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. ( 18249054 )
2008
132
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. ( 18344409 )
2008
133
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. ( 18776754 )
2008
134
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. ( 18006960 )
2007
135
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. ( 17197219 )
2007
136
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). ( 17286308 )
2007
137
Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. ( 18188427 )
2007
138
[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. ( 17650909 )
2007
139
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 17497248 )
2007
140
Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. ( 17347909 )
2007
141
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. ( 17365127 )
2007
142
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. ( 17441222 )
2007
143
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. ( 17341417 )
2007
144
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome. ( 17314682 )
2007
145
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. ( 17994283 )
2007
146
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). ( 17702049 )
2007
147
Smith-Lemli-Opitz syndrome and autism spectrum disorder. ( 17974928 )
2007
148
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 17714750 )
2007
149
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. ( 16832833 )
2006
150
Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. ( 16702508 )
2006
151
School in photodermatology: Smith-Lemli-Opitz syndrome. ( 16869869 )
2006
152
A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis. ( 16831310 )
2006
153
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. ( 16983147 )
2006
154
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? ( 16906538 )
2006
155
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. ( 16618793 )
2006
156
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. ( 16678134 )
2006
157
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. ( 16446309 )
2006
158
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. ( 16258167 )
2006
159
Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. ( 16458195 )
2006
160
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. ( 16360150 )
2006
161
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. ( 16199034 )
2006
162
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. ( 16814115 )
2006
163
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. ( 16451140 )
2006
164
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. ( 16761297 )
2006
165
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. ( 16490099 )
2006
166
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. ( 15952211 )
2005
167
[Smith-Lemli-Opitz syndrome]. ( 16327658 )
2005
168
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. ( 15702407 )
2005
169
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. ( 16435228 )
2005
170
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? ( 15965973 )
2005
171
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. ( 16392899 )
2005
172
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. ( 15670717 )
2005
173
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. ( 15979035 )
2005
174
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. ( 15774833 )
2005
175
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. ( 16097001 )
2005
176
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. ( 16181459 )
2005
177
Recent insights into the Smith-Lemli-Opitz syndrome. ( 16207203 )
2005
178
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. ( 16280635 )
2005
179
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. ( 15896653 )
2005
180
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. ( 15805162 )
2005
181
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. ( 15877207 )
2005
182
Surgical implications of the Smith-Lemli-Opitz syndrome. ( 15834578 )
2005
183
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 15954111 )
2005
184
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. ( 15776424 )
2005
185
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. ( 16044199 )
2005
186
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. ( 14605787 )
2004
187
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. ( 15521979 )
2004
188
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. ( 14715377 )
2004
189
Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report. ( 15633366 )
2004
190
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. ( 15316965 )
2004
191
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 14981719 )
2004
192
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. ( 14594996 )
2004
193
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. ( 15192627 )
2004
194
Smith-Lemli-Opitz syndrome. ( 15181308 )
2004
195
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. ( 15464432 )
2004
196
Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II. ( 15170811 )
2004
197
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. ( 15319461 )
2004
198
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. ( 15286151 )
2004
199
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. ( 15480380 )
2004
200
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. ( 15005800 )
2004
201
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. ( 15302661 )
2004
202
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. ( 15514417 )
2004
203
Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. ( 14604256 )
2003
204
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. ( 12833423 )
2003
205
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. ( 12906934 )
2003
206
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. ( 14659996 )
2003
207
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. ( 12797454 )
2003
208
Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. ( 12949967 )
2003
209
Smith-Lemli-Opitz syndrome and the DHCR7 gene. ( 12914579 )
2003
210
Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. ( 12717589 )
2003
211
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. ( 12818773 )
2003
212
Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome. ( 12714790 )
2003
213
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( 12850625 )
2003
214
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. ( 14556255 )
2003
215
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. ( 14662594 )
2003
216
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. ( 12887150 )
2003
217
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. ( 12475721 )
2003
218
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 12476463 )
2003
219
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. ( 12047895 )
2002
220
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. ( 11857552 )
2002
221
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. ( 11943798 )
2002
222
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. ( 12270273 )
2002
223
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. ( 12051964 )
2002
224
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). ( 12477489 )
2002
225
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. ( 12364550 )
2002
226
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. ( 12357175 )
2002
227
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. ( 12070263 )
2002
228
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. ( 12224080 )
2002
229
The challenge of providing continuity in the care of a disabled child: Smith-Lemli-Opitz syndrome. ( 12217226 )
2002
230
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. ( 12366604 )
2002
231
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. ( 11427181 )
2001
232
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. ( 11167696 )
2001
233
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. ( 11175299 )
2001
234
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 11503168 )
2001
235
Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome. ( 11746018 )
2001
236
Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. ( 11266498 )
2001
237
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 11471166 )
2001
238
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. ( 11505445 )
2001
239
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. ( 11453964 )
2001
240
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11503169 )
2001
241
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. ( 11230174 )
2001
242
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. ( 11745994 )
2001
243
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( 11483057 )
2001
244
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. ( 11254748 )
2001
245
Smith-Lemli-Opitz syndrome. ( 11349693 )
2001
246
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. ( 11223857 )
2001
247
Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. ( 11566274 )
2001
248
DHCR7 and Smith-Lemli-Opitz syndrome. ( 11767235 )
2001
249
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11260610 )
2001
250
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ( 11298379 )
2001
251
Carrier frequency of the common mutation IVS8-1G&amp;gt;C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. ( 11161831 )
2001
252
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. ( 11074502 )
2000
253
Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities. ( 11128747 )
2000
254
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. ( 10677299 )
2000
255
Incidence and molecular mechanism of aberrant splicing owing to a G--&amp;gt;C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. ( 10905895 )
2000
256
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. ( 10833186 )
2000
257
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. ( 11186897 )
2000
258
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. ( 10694693 )
2000
259
Smith-Lemli-Opitz syndrome: case report and literature review. ( 11101752 )
2000
260
The Smith-Lemli-Opitz syndrome. ( 10807690 )
2000
261
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. ( 11078571 )
2000
262
Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model. ( 10744785 )
2000
263
Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol. ( 11032340 )
2000
264
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. ( 10899806 )
2000
265
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. ( 10719329 )
2000
266
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G--&amp;gt;C is found in over sixty percent of US propositi. ( 10710236 )
2000
267
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. ( 11111101 )
2000
268
Aberrant pathways in the late stages of cholesterol biosynthesis in the rat. Origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome. ( 11060346 )
2000
269
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. ( 11001806 )
2000
270
Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. ( 10974051 )
2000
271
Anesthetic considerations in Smith-Lemli-Opitz syndrome. ( 10875719 )
2000
272
Incidence of Smith-Lemli-Opitz syndrome in Slovakia. ( 10678669 )
2000
273
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. ( 10946022 )
2000
274
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. ( 11001807 )
2000
275
Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome. ( 10896307 )
2000
276
Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. ( 10947201 )
2000
277
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. ( 10896306 )
2000
278
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. ( 10748414 )
2000
279
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. ( 10951458 )
2000
280
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. ( 10995508 )
2000
281
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. ( 10069708 )
1999
282
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. ( 10327280 )
1999
283
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. ( 10631931 )
1999
284
RSH (so-called Smith-Lemli-Opitz) syndrome. ( 10439210 )
1999
285
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. ( 10073912 )
1999
286
Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty. ( 10447131 )
1999
287
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. ( 10443904 )
1999
288
Antenatal therapy of Smith-Lemli-Opitz syndrome. ( 10364662 )
1999
289
Biochemical variants of Smith-Lemli-Opitz syndrome. ( 10405455 )
1999
290
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. ( 10411425 )
1999
291
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. ( 10602371 )
1999
292
Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. ( 10329655 )
1999
293
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. ( 10215064 )
1999
294
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. ( 10439827 )
1999
295
Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome. ( 10064734 )
1999
296
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. ( 10583043 )
1999
297
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. ( 10069707 )
1999
298
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. ( 10591424 )
1999
299
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. ( 10084612 )
1999
300
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. ( 10564872 )
1999
301
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver. ( 10428990 )
1999
302
A simple PCR-based assay allows detection of a common mutation, IVS8-1G--&amp;gt;C, in DHCR7 in Smith-Lemli-Opitz syndrome. ( 10627944 )
1999
303
Photosensitivity in the Smith-Lemli-Opitz syndrome. ( 10599969 )
1999
304
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. ( 9683613 )
1998
305
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. ( 9683618 )
1998
306
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. ( 9678700 )
1998
307
RSH (Smith-Lemli-Opitz) syndrome: &amp;quot;severe&amp;quot; phenotype with ectrodactyly. ( 9475598 )
1998
308
Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. ( 9634533 )
1998
309
Cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 9714443 )
1998
310
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. ( 9706645 )
1998
311
Smith-Lemli-Opitz syndrome in Japan. ( 9450870 )
1998
312
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. ( 9523845 )
1998
313
Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts. ( 9819706 )
1998
314
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 9602484 )
1998
315
Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. ( 9856557 )
1998
316
Photosensitivity associated with the Smith-Lemli-Opitz syndrome. ( 9666840 )
1998
317
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. ( 9714006 )
1998
318
7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. ( 9548596 )
1998
319
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. ( 9880216 )
1998
320
Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. ( 9653161 )
1998
321
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. ( 9714007 )
1998
322
Abnormal cholesterol biosynthesis produced by AY 9944 in the rat leads to skeletal deformities similar to the Smith-Lemli-Opitz syndrome. ( 9523840 )
1998
323
Phenotypic diversity in the Smith-Lemli-Opitz syndrome. ( 9018421 )
1997
324
Smith-Lemli-Opitz syndrome: thirty-year follow-up of &amp;quot;S&amp;quot; of &amp;quot;RSH&amp;quot; syndrome. ( 9024556 )
1997
325
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. ( 9024557 )
1997
326
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. ( 8990234 )
1997
327
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. ( 9024561 )
1997
328
Cardiovascular malformations in Smith-Lemli-Opitz syndrome. ( 9024558 )
1997
329
Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. ( 9225842 )
1997
330
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. ( 9090293 )
1997
331
MRI in Smith-Lemli-Opitz syndrome type 1. ( 9403196 )
1997
332
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. ( 9024565 )
1997
333
New treatment strategy for Smith-Lemli-Opitz syndrome. ( 9130950 )
1997
334
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection. ( 9266374 )
1997
335
Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. ( 9024563 )
1997
336
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) ( 9024564 )
1997
337
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. ( 9024560 )
1997
338
Smith-Lemli-Opitz syndrome: further delineation of the phenotype. ( 9220198 )
1997
339
Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. ( 9024567 )
1997
340
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. ( 9024568 )
1997
341
MRI in Smith-Lemli-Opitz syndrome type I. ( 9083702 )
1997
342
Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. ( 9024555 )
1997
343
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. ( 9061771 )
1997
344
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. ( 9266395 )
1997
345
Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome. ( 8978494 )
1996
346
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. ( 8766772 )
1996
347
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? ( 8989473 )
1996
348
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). ( 8726234 )
1996
349
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. ( 10829981 )
1996
350
Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 8659752 )
1996
351
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. ( 8987154 )
1996
352
Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids. ( 8737829 )
1996
353
Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. ( 8830178 )
1996
354
Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. ( 8808767 )
1996
355
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
356
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. ( 8831138 )
1996
357
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8808751 )
1996
358
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. ( 8863875 )
1996
359
Cholesta-5,7,9(11)-trien-3 beta-ol found in plasma of patients with Smith-Lemli-Opitz syndrome indicates formation of sterol hydroperoxide. ( 8978479 )
1996
360
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. ( 8884563 )
1996
361
Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome. ( 8527820 )
1995
362
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. ( 7762564 )
1995
363
Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. ( 8656079 )
1995
364
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8919321 )
1995
365
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. ( 8533850 )
1995
366
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. ( 7778588 )
1995
367
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. ( 7778590 )
1995
368
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. ( 7664465 )
1995
369
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. ( 7778589 )
1995
370
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. ( 8776024 )
1995
371
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. ( 7616117 )
1995
372
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. ( 7608816 )
1995
373
Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. ( 7814648 )
1995
374
Anesthesia-induced rigidity, unrelated to succinylcholine, associated with Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 7864433 )
1995
375
Unusual case of Smith-Lemli-Opitz syndrome &amp;quot;type II&amp;quot;. ( 7778586 )
1995
376
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778591 )
1995
377
Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. ( 7557099 )
1995
378
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778587 )
1995
379
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. ( 7595082 )
1995
380
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. ( 8559757 )
1995
381
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. ( 7603789 )
1995
382
Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry. ( 7720244 )
1995
383
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. ( 7706951 )
1995
384
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. ( 8209918 )
1994
385
Abnormal bile acids in the Smith-Lemli-Opitz syndrome. ( 8209917 )
1994
386
RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. ( 8209916 )
1994
387
Picture of the month. Smith-Lemli-Opitz syndrome. ( 7921121 )
1994
388
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. ( 8259166 )
1994
389
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. ( 8209919 )
1994
390
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177281 )
1994
391
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. ( 7632194 )
1994
392
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. ( 8209913 )
1994
393
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. ( 8116676 )
1994
394
Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report. ( 7699276 )
1994
395
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177282 )
1994
396
Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings. ( 8469589 )
1993
397
Smith-Lemli-Opitz syndrome. ( 8244478 )
1993
398
Smith-Lemli-Opitz Syndrome ( 20301322 )
1993
399
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. ( 7684480 )
1993
400
Gonadal function in Smith-Lemli-Opitz syndrome. ( 8418647 )
1993
401
Cholesterol defect in Smith-Lemli-Opitz syndrome. ( 8256825 )
1993
402
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. ( 1605242 )
1992
403
Smith-Lemli-Opitz syndrome: the changing phenotype with age. ( 1642814 )
1992
404
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. ( 1392379 )
1992
405
Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. ( 1354158 )
1992
406
Smith-Lemli-Opitz syndrome in siblings. ( 1389317 )
1992
407
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. ( 1865466 )
1991
408
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. ( 1849804 )
1991
409
Smith-Lemli-Opitz syndrome in female, monozygotic twins. ( 1773539 )
1991
410
A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. ( 2038028 )
1991
411
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? ( 2395167 )
1990
412
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. ( 2309789 )
1990
413
Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome. ( 2542142 )
1989
414
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. ( 2729358 )
1989
415
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). ( 2596525 )
1989
416
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. ( 2831368 )
1988
417
Two cases of severe lethal Smith-Lemli-Opitz syndrome. ( 3812579 )
1987
418
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? ( 3425639 )
1987
419
Nosology of Smith-Lemli-Opitz syndrome. ( 3322012 )
1987
420
Female external genitalia and mA1llerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. ( 3322011 )
1987
421
The nosology of the Smith-Lemli-Opitz Syndrome. ( 3425637 )
1987
422
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. ( 3612721 )
1987
423
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. ( 3611634 )
1987
424
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. ( 3812577 )
1987
425
Smith-Lemli-Opitz syndrome. ( 3425638 )
1987
426
Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. ( 3560332 )
1987
427
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. ( 3712395 )
1986
428
Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 )
1985
429
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. ( 3018967 )
1985
430
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. ( 3934624 )
1985
431
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. ( 6437074 )
1984
432
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. ( 6713715 )
1984
433
Smith-Lemli-Opitz syndrome and Hirschsprung disease. ( 6737144 )
1984
434
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. ( 6859094 )
1983
435
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. ( 6886911 )
1983
436
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. ( 6858679 )
1983
437
Ocular manifestations of the Smith-Lemli-Opitz syndrome. ( 7295150 )
1981
438
Postlenticular membrane associated with Smith-Lemli-Opitz syndrome. ( 443339 )
1979
439
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. ( 862305 )
1977
440
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. ( 844667 )
1977
441
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977
442
The Smith-Lemli-Opitz syndrome in a five months old child. ( 614986 )
1977
443
Smith-Lemli-Opitz syndrome: two further cases. ( 1110157 )
1975
444
The pathological anatomy of the Smith-Lemli-Opitz syndrome. ( 1149307 )
1975
445
Smith-Lemli-Opitz syndrome: review and report of two affected siblings. ( 166525 )
1975
446
Three sisters with the Smith-Lemli-Opitz syndrome. ( 4213791 )
1974
447
Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings. ( 4147088 )
1973
448
Smith-Lemli-Opitz syndrome in an adult. ( 4153066 )
1972
449
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. ( 4664661 )
1972
450
Smith-Lemli-Opitz syndrome in an inbred family. ( 5056882 )
1972
451
Smith-Lemli-Opitz syndrome with cardiovascular abnormality. ( 5573870 )
1971
452
The Smith-Lemli-Opitz syndrome. ( 5096180 )
1971
453
Cataracts in the Smith-Lemli-Opitz syndrome. ( 4330375 )
1971
454
The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy. ( 5098076 )
1971
455
Smith-Lemli-Opitz syndrome in a negro child. ( 5762893 )
1969
456
Smith-Lemli-Opitz syndrome. ( 5349196 )
1969
457
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. ( 4389828 )
1969
458
The Smith-Lemli-Opitz syndrome in an adult male. ( 5363344 )
1969
459
Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome. ( 5809847 )
1969
460
Smith-Lemli-Opitz syndrome. Case report. ( 5303264 )
1968
461
Picture of the month. Smith-Lemli-Opitz syndrome. ( 5689489 )
1968
462
Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome. ( 4386913 )
1968
463
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. ( 5642353 )
1968
464
Smith-Lemli-Opitz syndrome. ( 5708286 )
1968
465
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA. ( 14303408 )
1965

Variations for Smith-Lemli-Opitz Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Smith-Lemli-Opitz Syndrome:

75 (showing 53, show less)
# Symbol AA change Variation ID SNP ID
1 DHCR7 p.Pro51Ser VAR_012717 rs104886035
2 DHCR7 p.Thr93Met VAR_012718 rs80338853
3 DHCR7 p.Leu99Pro VAR_012719 rs104886041
4 DHCR7 p.His119Leu VAR_012720 rs28938174
5 DHCR7 p.Leu157Pro VAR_012721 rs753960624
6 DHCR7 p.Gly244Arg VAR_012722 rs121909764
7 DHCR7 p.Ala247Val VAR_012723 rs886041354
8 DHCR7 p.Trp248Cys VAR_012724 rs104894212
9 DHCR7 p.Thr289Ile VAR_012725 rs121909765
10 DHCR7 p.Val326Leu VAR_012726 rs80338859
11 DHCR7 p.Arg352Trp VAR_012727 rs80338860
12 DHCR7 p.Cys380Ser VAR_012728
13 DHCR7 p.Arg404Cys VAR_012729 rs61757582
14 DHCR7 p.Gly410Ser VAR_012730 rs80338862
15 DHCR7 p.Glu448Lys VAR_016975 rs80338864
16 DHCR7 p.Leu68Pro VAR_023148 rs104886038
17 DHCR7 p.Gln107His VAR_023149 rs104886040
18 DHCR7 p.Leu109Pro VAR_023150 rs121912195
19 DHCR7 p.Ser113Cys VAR_023151
20 DHCR7 p.Gly138Val VAR_023152
21 DHCR7 p.Ile145Leu VAR_023153
22 DHCR7 p.Gly147Asp VAR_023154 rs777425801
23 DHCR7 p.Thr154Met VAR_023155 rs143312232
24 DHCR7 p.Ser169Leu VAR_023156 rs80338855
25 DHCR7 p.Trp182Cys VAR_023157
26 DHCR7 p.Trp182Leu VAR_023158
27 DHCR7 p.Cys183Tyr VAR_023159
28 DHCR7 p.Lys198Glu VAR_023160
29 DHCR7 p.Phe235Ser VAR_023161
30 DHCR7 p.Arg242Cys VAR_023162 rs80338856
31 DHCR7 p.Arg242His VAR_023163 rs80338857
32 DHCR7 p.Phe255Leu VAR_023164
33 DHCR7 p.Val281Met VAR_023165 rs398123607
34 DHCR7 p.Ile297Thr VAR_023166
35 DHCR7 p.Cys311Gly VAR_023167
36 DHCR7 p.Cys311Tyr VAR_023168
37 DHCR7 p.Tyr324His VAR_023169
38 DHCR7 p.Gly344Arg VAR_023170
39 DHCR7 p.Arg352Gln VAR_023171 rs121909768
40 DHCR7 p.Val353Ala VAR_023172
41 DHCR7 p.Arg362Cys VAR_023173 rs371302153
42 DHCR7 p.Cys380Arg VAR_023174 rs373306653
43 DHCR7 p.Cys380Tyr VAR_023175 rs779709646
44 DHCR7 p.Ser397Leu VAR_023176 rs773134475
45 DHCR7 p.Arg404Ser VAR_023177
46 DHCR7 p.His405Tyr VAR_023178
47 DHCR7 p.Tyr408His VAR_023179 rs1046560765Smith-Lemli-Opitz
48 DHCR7 p.Gly410Arg VAR_023180
49 DHCR7 p.His426Pro VAR_023181
50 DHCR7 p.Arg443Cys VAR_023182 rs535561852
51 DHCR7 p.Arg446Gln VAR_023183 rs751604696
52 DHCR7 p.Glu448Gln VAR_023184
53 DHCR7 p.Arg450Leu VAR_023185 rs542266962

ClinVar genetic disease variations for Smith-Lemli-Opitz Syndrome:

6
(showing 209, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
2 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh38 Chromosome 11, 71437944: 71437944
3 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
4 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
5 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
6 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
7 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh38 Chromosome 11, 71442319: 71442319
8 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
9 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh38 Chromosome 11, 71438980: 71438980
10 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
11 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh38 Chromosome 11, 71438966: 71438966
12 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
13 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh38 Chromosome 11, 71444036: 71444036
14 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
15 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh38 Chromosome 11, 71441400: 71441400
16 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
17 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh38 Chromosome 11, 71435827: 71435827
18 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
19 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
20 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh38 Chromosome 11, 71435749: 71435749
21 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
22 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh38 Chromosome 11, 71435593: 71435593
23 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
24 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Likely pathogenic rs121909765 GRCh38 Chromosome 11, 71437909: 71437909
25 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
26 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh38 Chromosome 11, 71437936: 71437936
27 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
28 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs121909767 GRCh38 Chromosome 11, 71444950: 71444950
29 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
30 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh38 Chromosome 11, 71435461: 71435461
31 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
32 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
33 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh38 Chromosome 11, 71444952: 71444952
34 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
35 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh38 Chromosome 11, 71435748: 71435748
36 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
37 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh38 Chromosome 11, 71435575: 71435575
38 DHCR7 NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs11555217 GRCh37 Chromosome 11, 71152447: 71152447
39 DHCR7 NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs11555217 GRCh38 Chromosome 11, 71441401: 71441401
40 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Likely pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
41 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Likely pathogenic rs80338855 GRCh38 Chromosome 11, 71441347: 71441347
42 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
43 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh38 Chromosome 11, 71438986: 71438986
44 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
45 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh38 Chromosome 11, 71438985: 71438985
46 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
47 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh38 Chromosome 11, 71437869: 71437869
48 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
49 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh37 Chromosome 11, 71153306: 71153306
50 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
51 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh38 Chromosome 11, 71444163: 71444163
52 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
53 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
54 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
55 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
56 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh37 Chromosome 11, 71155234: 71155234
57 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh38 Chromosome 11, 71444188: 71444188
58 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh37 Chromosome 11, 71146757: 71146757
59 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh38 Chromosome 11, 71435711: 71435711
60 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh37 Chromosome 11, 71146841: 71146841
61 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh38 Chromosome 11, 71435795: 71435795
62 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
63 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh37 Chromosome 11, 71146423: 71146423
64 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
65 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh37 Chromosome 11, 71146710: 71146710
66 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
67 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
68 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
69 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh37 Chromosome 11, 71155068: 71155068
70 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
71 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh37 Chromosome 11, 71155249: 71155249
72 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh37 Chromosome 11, 71153345: 71153345
73 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh38 Chromosome 11, 71442299: 71442299
74 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh37 Chromosome 11, 71153322: 71153322
75 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh38 Chromosome 11, 71442276: 71442276
76 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh37 Chromosome 11, 71148914: 71148914
77 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh38 Chromosome 11, 71437868: 71437868
78 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh37 Chromosome 11, 71146453: 71146453
79 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh38 Chromosome 11, 71435407: 71435407
80 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
81 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh38 Chromosome 11, 71435455: 71435455
82 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
83 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh38 Chromosome 11, 71435665: 71435665
84 DHCR7 NM_001360.2(DHCR7): c.927C> A (p.Gly309=) single nucleotide variant Conflicting interpretations of pathogenicity rs149974099 GRCh37 Chromosome 11, 71148894: 71148894
85 DHCR7 NM_001360.2(DHCR7): c.927C> A (p.Gly309=) single nucleotide variant Conflicting interpretations of pathogenicity rs149974099 GRCh38 Chromosome 11, 71437848: 71437848
86 DHCR7 NM_001360.2(DHCR7): c.840C> T (p.Tyr280=) single nucleotide variant Uncertain significance rs148468879 GRCh37 Chromosome 11, 71148981: 71148981
87 DHCR7 NM_001360.2(DHCR7): c.840C> T (p.Tyr280=) single nucleotide variant Uncertain significance rs148468879 GRCh38 Chromosome 11, 71437935: 71437935
88 DHCR7 NM_001360.2(DHCR7): c.*790C> T single nucleotide variant Uncertain significance rs12407 GRCh38 Chromosome 11, 71434585: 71434585
89 DHCR7 NM_001360.2(DHCR7): c.*790C> T single nucleotide variant Uncertain significance rs12407 GRCh37 Chromosome 11, 71145631: 71145631
90 DHCR7 NM_001360.2(DHCR7): c.*779T> C single nucleotide variant Uncertain significance rs541282653 GRCh38 Chromosome 11, 71434596: 71434596
91 DHCR7 NM_001360.2(DHCR7): c.*779T> C single nucleotide variant Uncertain significance rs541282653 GRCh37 Chromosome 11, 71145642: 71145642
92 DHCR7 NM_001360.2(DHCR7): c.*734A> G single nucleotide variant Benign rs7690 GRCh38 Chromosome 11, 71434641: 71434641
93 DHCR7 NM_001360.2(DHCR7): c.*734A> G single nucleotide variant Benign rs7690 GRCh37 Chromosome 11, 71145687: 71145687
94 DHCR7 NM_001360.2(DHCR7): c.*161_*172delCTGTTCCTTGCT deletion Likely benign rs141483210 GRCh38 Chromosome 11, 71435203: 71435214
95 DHCR7 NM_001360.2(DHCR7): c.*161_*172delCTGTTCCTTGCT deletion Likely benign rs141483210 GRCh37 Chromosome 11, 71146249: 71146260
96 DHCR7 NM_001360.2(DHCR7): c.1273G> A (p.Gly425Ser) single nucleotide variant Uncertain significance rs760242 GRCh38 Chromosome 11, 71435530: 71435530
97 DHCR7 NM_001360.2(DHCR7): c.1273G> A (p.Gly425Ser) single nucleotide variant Uncertain significance rs760242 GRCh37 Chromosome 11, 71146576: 71146576
98 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
99 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
100 DHCR7 NM_001360.2(DHCR7): c.-6-4G> A single nucleotide variant Uncertain significance rs183610891 GRCh37 Chromosome 11, 71156008: 71156008
101 DHCR7 NM_001360.2(DHCR7): c.-6-4G> A single nucleotide variant Uncertain significance rs183610891 GRCh38 Chromosome 11, 71444962: 71444962
102 DHCR7 NM_001360.2(DHCR7): c.-23T> C single nucleotide variant Likely benign rs12573951 GRCh37 Chromosome 11, 71158672: 71158672
103 DHCR7 NM_001360.2(DHCR7): c.-23T> C single nucleotide variant Likely benign rs12573951 GRCh38 Chromosome 11, 71447626: 71447626
104 DHCR7 NM_001360.2(DHCR7): c.-209G> A single nucleotide variant Uncertain significance rs886048620 GRCh37 Chromosome 11, 71159413: 71159413
105 DHCR7 NM_001360.2(DHCR7): c.-209G> A single nucleotide variant Uncertain significance rs886048620 GRCh38 Chromosome 11, 71448367: 71448367
106 DHCR7 NM_001360.2(DHCR7): c.*765G> A single nucleotide variant Uncertain significance rs777137931 GRCh38 Chromosome 11, 71434610: 71434610
107 DHCR7 NM_001360.2(DHCR7): c.*765G> A single nucleotide variant Uncertain significance rs777137931 GRCh37 Chromosome 11, 71145656: 71145656
108 DHCR7 NM_001360.2(DHCR7): c.*700G> A single nucleotide variant Uncertain significance rs886048612 GRCh38 Chromosome 11, 71434675: 71434675
109 DHCR7 NM_001360.2(DHCR7): c.*700G> A single nucleotide variant Uncertain significance rs886048612 GRCh37 Chromosome 11, 71145721: 71145721
110 DHCR7 NM_001360.2(DHCR7): c.*438G> A single nucleotide variant Uncertain significance rs886048615 GRCh38 Chromosome 11, 71434937: 71434937
111 DHCR7 NM_001360.2(DHCR7): c.*438G> A single nucleotide variant Uncertain significance rs886048615 GRCh37 Chromosome 11, 71145983: 71145983
112 DHCR7 NM_001360.2(DHCR7): c.*417C> T single nucleotide variant Uncertain significance rs537429160 GRCh38 Chromosome 11, 71434958: 71434958
113 DHCR7 NM_001360.2(DHCR7): c.*417C> T single nucleotide variant Uncertain significance rs537429160 GRCh37 Chromosome 11, 71146004: 71146004
114 DHCR7 NM_001360.2(DHCR7): c.*261G> A single nucleotide variant Uncertain significance rs886048617 GRCh38 Chromosome 11, 71435114: 71435114
115 DHCR7 NM_001360.2(DHCR7): c.*261G> A single nucleotide variant Uncertain significance rs886048617 GRCh37 Chromosome 11, 71146160: 71146160
116 DHCR7 NM_001360.2(DHCR7): c.241C> T (p.Arg81Trp) single nucleotide variant Uncertain significance rs775735710 GRCh37 Chromosome 11, 71155119: 71155119
117 DHCR7 NM_001360.2(DHCR7): c.241C> T (p.Arg81Trp) single nucleotide variant Uncertain significance rs775735710 GRCh38 Chromosome 11, 71444073: 71444073
118 DHCR7 NM_001360.2(DHCR7): c.*681T> C single nucleotide variant Uncertain significance rs886048613 GRCh38 Chromosome 11, 71434694: 71434694
119 DHCR7 NM_001360.2(DHCR7): c.*681T> C single nucleotide variant Uncertain significance rs886048613 GRCh37 Chromosome 11, 71145740: 71145740
120 DHCR7 NM_001360.2(DHCR7): c.*644G> A single nucleotide variant Uncertain significance rs886048614 GRCh37 Chromosome 11, 71145777: 71145777
121 DHCR7 NM_001360.2(DHCR7): c.*644G> A single nucleotide variant Uncertain significance rs886048614 GRCh38 Chromosome 11, 71434731: 71434731
122 DHCR7 NM_001360.2(DHCR7): c.*451A> G single nucleotide variant Uncertain significance rs11233662 GRCh38 Chromosome 11, 71434924: 71434924
123 DHCR7 NM_001360.2(DHCR7): c.*451A> G single nucleotide variant Uncertain significance rs11233662 GRCh37 Chromosome 11, 71145970: 71145970
124 DHCR7 NM_001360.2(DHCR7): c.1389C> T (p.Thr463=) single nucleotide variant Uncertain significance rs200477386 GRCh38 Chromosome 11, 71435414: 71435414
125 DHCR7 NM_001360.2(DHCR7): c.1389C> T (p.Thr463=) single nucleotide variant Uncertain significance rs200477386 GRCh37 Chromosome 11, 71146460: 71146460
126 DHCR7 NM_001360.2(DHCR7): c.1083C> A (p.Phe361Leu) single nucleotide variant Uncertain significance rs780088227 GRCh37 Chromosome 11, 71146766: 71146766
127 DHCR7 NM_001360.2(DHCR7): c.1083C> A (p.Phe361Leu) single nucleotide variant Uncertain significance rs780088227 GRCh38 Chromosome 11, 71435720: 71435720
128 DHCR7 NM_001360.2(DHCR7): c.570C> T (p.Ala190=) single nucleotide variant Conflicting interpretations of pathogenicity rs74909468 GRCh37 Chromosome 11, 71152329: 71152329
129 DHCR7 NM_001360.2(DHCR7): c.570C> T (p.Ala190=) single nucleotide variant Conflicting interpretations of pathogenicity rs74909468 GRCh38 Chromosome 11, 71441283: 71441283
130 DHCR7 NM_001360.2(DHCR7): c.99-5C> T single nucleotide variant Uncertain significance rs372886043 GRCh37 Chromosome 11, 71155266: 71155266
131 DHCR7 NM_001360.2(DHCR7): c.99-5C> T single nucleotide variant Uncertain significance rs372886043 GRCh38 Chromosome 11, 71444220: 71444220
132 DHCR7 NM_001360.2(DHCR7): c.-34T> G single nucleotide variant Uncertain significance rs145915789 GRCh37 Chromosome 11, 71158683: 71158683
133 DHCR7 NM_001360.2(DHCR7): c.-34T> G single nucleotide variant Uncertain significance rs145915789 GRCh38 Chromosome 11, 71447637: 71447637
134 DHCR7 NM_001360.2(DHCR7): c.-132+3G> A single nucleotide variant Uncertain significance rs886048618 GRCh37 Chromosome 11, 71159333: 71159333
135 DHCR7 NM_001360.2(DHCR7): c.-132+3G> A single nucleotide variant Uncertain significance rs886048618 GRCh38 Chromosome 11, 71448287: 71448287
136 DHCR7 NM_001360.2(DHCR7): c.-192C> T single nucleotide variant Uncertain significance rs886048619 GRCh37 Chromosome 11, 71159396: 71159396
137 DHCR7 NM_001360.2(DHCR7): c.-192C> T single nucleotide variant Uncertain significance rs886048619 GRCh38 Chromosome 11, 71448350: 71448350
138 DHCR7 NM_001360.2(DHCR7): c.-195G> T single nucleotide variant Uncertain significance rs141057811 GRCh37 Chromosome 11, 71159399: 71159399
139 DHCR7 NM_001360.2(DHCR7): c.-195G> T single nucleotide variant Uncertain significance rs141057811 GRCh38 Chromosome 11, 71448353: 71448353
140 DHCR7 NM_001360.2(DHCR7): c.-225C> T single nucleotide variant Likely benign rs4944946 GRCh37 Chromosome 11, 71159429: 71159429
141 DHCR7 NM_001360.2(DHCR7): c.-225C> T single nucleotide variant Likely benign rs4944946 GRCh38 Chromosome 11, 71448383: 71448383
142 DHCR7 NM_001360.2(DHCR7): c.-225C> G single nucleotide variant Likely benign rs4944946 GRCh37 Chromosome 11, 71159429: 71159429
143 DHCR7 NM_001360.2(DHCR7): c.-225C> G single nucleotide variant Likely benign rs4944946 GRCh38 Chromosome 11, 71448383: 71448383
144 DHCR7 NM_001360.2(DHCR7): c.*761A> T single nucleotide variant Uncertain significance rs886048611 GRCh38 Chromosome 11, 71434614: 71434614
145 DHCR7 NM_001360.2(DHCR7): c.*761A> T single nucleotide variant Uncertain significance rs886048611 GRCh37 Chromosome 11, 71145660: 71145660
146 DHCR7 NM_001360.2(DHCR7): c.*643C> T single nucleotide variant Benign rs1044535 GRCh38 Chromosome 11, 71434732: 71434732
147 DHCR7 NM_001360.2(DHCR7): c.*643C> T single nucleotide variant Benign rs1044535 GRCh37 Chromosome 11, 71145778: 71145778
148 DHCR7 NM_001360.2(DHCR7): c.*480C> T single nucleotide variant Likely benign rs1790345 GRCh38 Chromosome 11, 71434895: 71434895
149 DHCR7 NM_001360.2(DHCR7): c.*480C> T single nucleotide variant Likely benign rs1790345 GRCh37 Chromosome 11, 71145941: 71145941
150 DHCR7 NM_001360.2(DHCR7): c.*424G> A single nucleotide variant Uncertain significance rs886048616 GRCh38 Chromosome 11, 71434951: 71434951
151 DHCR7 NM_001360.2(DHCR7): c.*424G> A single nucleotide variant Uncertain significance rs886048616 GRCh37 Chromosome 11, 71145997: 71145997
152 DHCR7 NM_001360.2(DHCR7): c.*324C> T single nucleotide variant Uncertain significance rs759058043 GRCh38 Chromosome 11, 71435051: 71435051
153 DHCR7 NM_001360.2(DHCR7): c.*324C> T single nucleotide variant Uncertain significance rs759058043 GRCh37 Chromosome 11, 71146097: 71146097
154 DHCR7 NM_001360.2(DHCR7): c.*119G> A single nucleotide variant Uncertain significance rs151230950 GRCh38 Chromosome 11, 71435256: 71435256
155 DHCR7 NM_001360.2(DHCR7): c.*119G> A single nucleotide variant Uncertain significance rs151230950 GRCh37 Chromosome 11, 71146302: 71146302
156 DHCR7 NM_001360.2(DHCR7): c.*25G> A single nucleotide variant Uncertain significance rs778207094 GRCh38 Chromosome 11, 71435350: 71435350
157 DHCR7 NM_001360.2(DHCR7): c.*25G> A single nucleotide variant Uncertain significance rs778207094 GRCh37 Chromosome 11, 71146396: 71146396
158 DHCR7 NM_001360.2(DHCR7): c.1381C> T (p.Arg461Cys) single nucleotide variant Uncertain significance rs199506852 GRCh38 Chromosome 11, 71435422: 71435422
159 DHCR7 NM_001360.2(DHCR7): c.1381C> T (p.Arg461Cys) single nucleotide variant Uncertain significance rs199506852 GRCh37 Chromosome 11, 71146468: 71146468
160 DHCR7 NM_001360.2(DHCR7): c.1091C> T (p.Thr364Met) single nucleotide variant Uncertain significance rs567600444 GRCh37 Chromosome 11, 71146758: 71146758
161 DHCR7 NM_001360.2(DHCR7): c.1091C> T (p.Thr364Met) single nucleotide variant Uncertain significance rs567600444 GRCh38 Chromosome 11, 71435712: 71435712
162 DHCR7 NM_001360.2(DHCR7): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs150563256 GRCh37 Chromosome 11, 71155071: 71155071
163 DHCR7 NM_001360.2(DHCR7): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs150563256 GRCh38 Chromosome 11, 71444025: 71444025
164 DHCR7 NM_001360.2(DHCR7): c.-35C> T single nucleotide variant Likely benign rs75974711 GRCh37 Chromosome 11, 71158684: 71158684
165 DHCR7 NM_001360.2(DHCR7): c.-35C> T single nucleotide variant Likely benign rs75974711 GRCh38 Chromosome 11, 71447638: 71447638
166 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
167 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh37 Chromosome 11, 71146650: 71146650
168 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
169 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh37 Chromosome 11, 71146768: 71146769
170 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh37 Chromosome 11, 71146783: 71146783
171 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh38 Chromosome 11, 71435737: 71435737
172 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh37 Chromosome 11, 71146854: 71146854
173 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh38 Chromosome 11, 71435808: 71435808
174 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh38 Chromosome 11, 71435812: 71435812
175 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh37 Chromosome 11, 71146858: 71146858
176 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh37 Chromosome 11, 71146868: 71146868
177 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh38 Chromosome 11, 71435822: 71435822
178 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh38 Chromosome 11, 71437810: 71437810
179 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh37 Chromosome 11, 71148856: 71148856
180 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh37 Chromosome 11, 71148857: 71148857
181 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh38 Chromosome 11, 71437811: 71437811
182 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh37 Chromosome 11, 71149923: 71149923
183 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh38 Chromosome 11, 71438877: 71438877
184 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh38 Chromosome 11, 71438906: 71438906
185 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh37 Chromosome 11, 71149952: 71149952
186 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130
187 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh38 Chromosome 11, 71439084: 71439084
188 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh38 Chromosome 11, 71441441: 71441441
189 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh37 Chromosome 11, 71152487: 71152487
190 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Likely pathogenic rs746482788 GRCh38 Chromosome 11, 71442258: 71442290
191 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Likely pathogenic rs746482788 GRCh37 Chromosome 11, 71153304: 71153336
192 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh37 Chromosome 11, 71155917: 71155917
193 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh38 Chromosome 11, 71444871: 71444871
194 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh38 Chromosome 11, 71444937: 71444937
195 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh37 Chromosome 11, 71155983: 71155983
196 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh38 Chromosome 11, 71435475: 71435475
197 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh37 Chromosome 11, 71146521: 71146521
198 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Pathogenic/Likely pathogenic rs200334114 GRCh37 Chromosome 11, 71155910: 71155910
199 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Pathogenic/Likely pathogenic rs200334114 GRCh38 Chromosome 11, 71444864: 71444864
200 DHCR7 NM_001360.2(DHCR7): c.1337G> A (p.Arg446Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751604696 GRCh37 Chromosome 11, 71146512: 71146512
201 DHCR7 NM_001360.2(DHCR7): c.1337G> A (p.Arg446Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751604696 GRCh38 Chromosome 11, 71435466: 71435466
202 DHCR7 NM_001360.2(DHCR7): c.1018G> A (p.Val340Ile) single nucleotide variant Benign rs148081697 GRCh37 Chromosome 11, 71146831: 71146831
203 DHCR7 NM_001360.2(DHCR7): c.1018G> A (p.Val340Ile) single nucleotide variant Benign rs148081697 GRCh38 Chromosome 11, 71435785: 71435785
204 DHCR7 NM_001360.2(DHCR7): c.970T> C (p.Tyr324His) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 71435833: 71435833
205 DHCR7 NM_001360.2(DHCR7): c.970T> C (p.Tyr324His) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 71146879: 71146879
206 DHCR7 NM_001360.2(DHCR7): c.470T> C (p.Leu157Pro) single nucleotide variant Pathogenic/Likely pathogenic rs753960624 GRCh37 Chromosome 11, 71152429: 71152429
207 DHCR7 NM_001360.2(DHCR7): c.470T> C (p.Leu157Pro) single nucleotide variant Pathogenic/Likely pathogenic rs753960624 GRCh38 Chromosome 11, 71441383: 71441383
208 DHCR7 NM_001360.2(DHCR7): c.159C> T (p.Ile53=) single nucleotide variant Likely benign rs752952700 GRCh38 Chromosome 11, 71444155: 71444155
209 DHCR7 NM_001360.2(DHCR7): c.159C> T (p.Ile53=) single nucleotide variant Likely benign rs752952700 GRCh37 Chromosome 11, 71155201: 71155201

Copy number variations for Smith-Lemli-Opitz Syndrome from CNVD:

7 (showing 1, show less)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 34824 11 56400000 76700000 Copy number DHCR7 Smith-Lemli-Opitz syndrome

Expression for Smith-Lemli-Opitz Syndrome

Search GEO for disease gene expression data for Smith-Lemli-Opitz Syndrome.

Pathways for Smith-Lemli-Opitz Syndrome

Pathways related to Smith-Lemli-Opitz Syndrome according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

Pathways related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(showing 10, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2
Show member pathways
12.48 ABCA1 FDFT1 HMGCR HMGCS2
3
Show member pathways
11.97 ABCA1 APOE LDLR
4
Show member pathways
11.51 DHCR7 FDFT1 HMGCR HMGCS2
5
Show member pathways
11.48 DHCR7 FDFT1 HMGCR
6 11.3 FDFT1 HMGCR LDLR
7
Show member pathways
11.09 ABCA1 APOE FDFT1 HMGCR LDLR
8 10.98 APOE LDLR
9
Show member pathways
10.9 FDFT1 HMGCR
10 10.41 ABCA1 HMGCR LDLR

GO Terms for Smith-Lemli-Opitz Syndrome

Cellular components related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.77 APOE DHCR7 FDFT1 HMGCR STS
2 endoplasmic reticulum lumen GO:0005788 9.58 APOE SHH STS
3 endoplasmic reticulum membrane GO:0005789 9.55 ABCA1 DHCR7 FDFT1 HMGCR STS
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.32 APOE LDLR
5 high-density lipoprotein particle GO:0034364 9.26 ABCA1 APOE
6 intracellular membrane-bounded organelle GO:0043231 9.02 ABCA1 DHCR7 FDFT1 HMGCR STS
7 low-density lipoprotein particle GO:0034362 8.96 APOE LDLR
8 membrane GO:0016020 10.09 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1

Biological processes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(showing 33, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.82 APOE LDLR SHH
2 lipid transport GO:0006869 9.79 ABCA1 APOE LDLR
3 lipid metabolic process GO:0006629 9.76 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
4 cholesterol homeostasis GO:0042632 9.73 ABCA1 APOE LDLR
5 regulation of lipid metabolic process GO:0019216 9.73 ABCA1 FDFT1 HMGCR HMGCS2
6 regulation of cholesterol biosynthetic process GO:0045540 9.67 DHCR7 FDFT1 HMGCR
7 steroid biosynthetic process GO:0006694 9.67 DHCR7 FDFT1 HMGCR HMGCS2
8 phospholipid transport GO:0015914 9.66 ABCA1 LDLR
9 negative regulation of MAP kinase activity GO:0043407 9.65 APOE HMGCR
10 long-term memory GO:0007616 9.65 APOE LDLR
11 cholesterol biosynthetic process GO:0006695 9.65 APOE DHCR7 FDFT1 HMGCR HMGCS2
12 cholesterol transport GO:0030301 9.64 ABCA1 LDLR
13 cholesterol efflux GO:0033344 9.64 ABCA1 APOE
14 positive regulation of endocytosis GO:0045807 9.63 APOE LDLR
15 myoblast differentiation GO:0045445 9.63 HMGCR SHH
16 lipoprotein metabolic process GO:0042157 9.63 ABCA1 APOE LDLR
17 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.62 ABCA1 LDLR
18 reverse cholesterol transport GO:0043691 9.62 ABCA1 APOE
19 sterol biosynthetic process GO:0016126 9.62 DHCR7 FDFT1 HMGCR HMGCS2
20 positive regulation of cholesterol efflux GO:0010875 9.61 ABCA1 APOE
21 high-density lipoprotein particle assembly GO:0034380 9.6 ABCA1 APOE
22 phospholipid efflux GO:0033700 9.59 ABCA1 APOE
23 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
24 regulation of cholesterol metabolic process GO:0090181 9.58 APOE LDLR
25 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
26 positive regulation of skeletal muscle tissue development GO:0048643 9.57 HMGCR SHH
27 chylomicron remnant clearance GO:0034382 9.55 APOE LDLR
28 regulation of Cdc42 protein signal transduction GO:0032489 9.54 ABCA1 APOE
29 lipoprotein biosynthetic process GO:0042158 9.52 ABCA1 APOE
30 lipoprotein catabolic process GO:0042159 9.51 APOE LDLR
31 cholesterol metabolic process GO:0008203 9.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
32 response to caloric restriction GO:0061771 9.48 APOE LDLR
33 steroid metabolic process GO:0008202 9.23 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2

Molecular functions related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.26 APOE LDLR
2 cholesterol binding GO:0015485 9.16 ABCA1 APOE
3 NADP binding GO:0050661 8.96 DHCR7 HMGCR
4 cholesterol transporter activity GO:0017127 8.62 ABCA1 APOE

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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