MCID: SMT004
MIFTS: 70

Smith-Lemli-Opitz Syndrome

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

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 53 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Rsh Syndrome 53 23 49 24 55 71
Slos 53 23 49 24 55 71
Slo Syndrome 53 23 49 24 71
Rutledge Lethal Multiple Congenital Anomaly Syndrome 53 12 49 71
7-Dehydrocholesterol Reductase Deficiency 49 24 55 69
Lethal Acrodysgenital Syndrome 53 49
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 49
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 53
Smith-Lemli-Opitz Syndrome, Type Ii 69
Smith-Lemli-Opitz Syndrome Type 2 28
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 270400
Disease Ontology 12 DOID:14692
ICD10 32 E78.72
MeSH 41 D019082
NCIt 46 C85071
SNOMED-CT 64 43929004
Orphanet 55 ORPHA818
MESH via Orphanet 42 D019082
UMLS via Orphanet 70 C0175694 C2713347
ICD10 via Orphanet 33 Q87.1
KEGG 36 H00161
SNOMED-CT via HPO 65 204962002 82525005 258211005 more

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 53 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 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome, and has symptoms including seizures, excessive daytime somnolence and hypertelorism. 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 Decreased free cholesterol and Increased LDL uptake

UniProtKB/Swiss-Prot : 71 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 : 49 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. Last updated: 3/13/2013

Genetics Home Reference : 24 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).

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 78, show less)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.7 APOE HMGCR LDLR
2 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.4
3 lathosterolosis 11.8
4 opitz gbbb syndrome, type i 11.6
5 van buchem disease 11.4
6 greenberg dysplasia 11.4
7 retinitis 10.6
8 retinal degeneration 10.6
9 hirschsprung disease 1 10.5
10 blood group, i system 10.5
11 autism 10.5
12 aging 10.5
13 cataract 10.5
14 polydactyly 10.4
15 holoprosencephaly 10.4
16 autism spectrum disorder 10.4
17 heart disease 10.4
18 neuronitis 10.4
19 malignant hyperthermia 10.4
20 pallister-hall syndrome 10.2
21 pancreas, annular 10.2
22 chromosome 2q35 duplication syndrome 10.2
23 down syndrome 10.2
24 renal hypodysplasia/aplasia 1 10.2
25 cerebrotendinous xanthomatosis 10.2
26 chondrodysplasia punctata syndrome 10.2
27 hydrolethalus syndrome 1 10.2
28 meckel syndrome, type 1 10.2
29 chromosome 16p13.3 deletion syndrome, proximal 10.2
30 46,xy sex reversal 3 10.2
31 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
32 pulmonary hypertension 10.2
33 hepatitis 10.2
34 sclerocornea 10.2
35 cholestasis 10.2
36 polyneuropathy 10.2
37 hypothyroidism 10.2
38 sex differentiation disease 10.2
39 cerebritis 10.2
40 pseudohermaphroditism 10.2
41 adrenal gland hyperfunction 10.2
42 conjunctivitis 10.2
43 achalasia 10.2
44 5-alpha reductase deficiency 10.2
45 dwarfism 10.2
46 germ cells tumors 10.2
47 precocious puberty 10.2
48 pulmonary vein stenosis 10.2
49 streptococcal group a invasive disease 10.2
50 mixed germ cell tumor 10.2
51 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 10.2
52 renal dysplasia 10.2
53 x-linked chondrodysplasia punctata 10.2 SHH STS
54 sitosterolemia 10.0 FDFT1 HMGCR
55 hypoalphalipoproteinemia, primary 9.9 ABCA1 LDLR
56 hemorrhage, intracerebral 9.8 APOE HMGCR
57 hypercholesterolemia, autosomal dominant, type b 9.8 APOE LDLR
58 lipoprotein glomerulopathy 9.8 APOE LDLR
59 hypobetalipoproteinemia, familial, 1 9.8 APOE LDLR
60 hyperlipidemia, familial combined 9.7 APOE HMGCR
61 hypolipoproteinemia 9.7 ABCA1 APOE
62 arcus corneae 9.6 APOE LDLR
63 defective apolipoprotein b-100 9.6 APOE HMGCR LDLR
64 homozygous familial hypercholesterolemia 9.6 APOE HMGCR LDLR
65 hyperlipoproteinemia, type iii 9.6 APOE HMGCR LDLR
66 coronary heart disease 1 9.6 APOE HMGCR LDLR
67 familial hyperlipidemia 9.6 APOE HMGCR LDLR
68 lipid metabolism disorder 9.6 APOE HMGCR LDLR
69 vascular disease 9.5 APOE HMGCR LDLR
70 aortic atherosclerosis 9.5 ABCA1 APOE LDLR
71 hyperalphalipoproteinemia 1 9.4 ABCA1 APOE LDLR
72 macular degeneration, age-related, 1 9.4 ABCA1 APOE KCNMA1
73 arteries, anomalies of 9.4 ABCA1 APOE LDLR
74 lecithin:cholesterol acyltransferase deficiency 9.4 APOE LDLR
75 atherosclerosis susceptibility 9.2 ABCA1 APOE HMGCR LDLR
76 coronary artery anomaly 9.2 ABCA1 APOE HMGCR LDLR
77 hypercholesterolemia, familial 9.2 ABCA1 APOE HMGCR LDLR
78 myocardial infarction 9.2 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:

53
Abdomen Gastroin testinal:
constipation
vomiting
pyloric stenosis
poor suck
malrotation

Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Growth Other:
failure to thrive

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

Neurologic Central Nervous System:
seizures
hydrocephalus
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

Genitourinary Internal Genitalia Male:
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:

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

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


vomiting, seizures, constipation

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

25 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 ABCA1 APOE HMGCR LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

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

43 (showing 8, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
2 cardiovascular system MP:0005385 9.91 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
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 9.72 ABCA1 APOE DHCR7 HMGCR LDLR
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 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
5 Antimetabolites Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
7 Hypolipidemic Agents Phase 2
8 Lipid Regulating Agents Phase 2
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Phytosterol Nutraceutical Phase 1, Phase 2

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 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
6 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
10 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
11 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
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 28 DHCR7
2 Smith-Lemli-Opitz Syndrome Type 2 28

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

38
Lung, Kidney, Heart, Eye, Skin, Bone, Tongue

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(showing 461, show less)
# Title Authors Year
1
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
2
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
3
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
4
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
5
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
6
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
7
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
8
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
9
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
10
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
11
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
12
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
13
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
14
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
15
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
16
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
17
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
18
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
19
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
20
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
21
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
22
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
23
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
24
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
25
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
26
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
27
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
28
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
29
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
30
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
31
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
32
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
33
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
34
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
35
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
36
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
37
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
38
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
39
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
40
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
41
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
42
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
43
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
44
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. ( 22718275 )
2013
45
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
46
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2013
47
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
48
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
49
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. ( 23422574 )
2013
50
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
51
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. ( 23022980 )
2013
52
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. ( 23319240 )
2013
53
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. ( 24296449 )
2013
54
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). ( 23595802 )
2013
55
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 23979708 )
2013
56
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. ( 23072947 )
2013
57
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. ( 23361583 )
2013
58
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. ( 23918729 )
2013
59
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. ( 22929031 )
2013
60
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. ( 23321614 )
2013
61
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. ( 23828810 )
2013
62
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. ( 23541496 )
2013
63
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. ( 23859856 )
2013
64
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? ( 24533230 )
2013
65
Growth charts for individuals with Smith-Lemli-Opitz syndrome. ( 22615010 )
2012
66
Smith-Lemli-Opitz syndrome among Arabs. ( 21696385 )
2012
67
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. ( 23042573 )
2012
68
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. ( 23293579 )
2012
69
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
70
DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. ( 22182693 )
2012
71
Mutational spectrum of Smith-Lemli-Opitz syndrome. ( 23042628 )
2012
72
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. ( 22391996 )
2012
73
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. ( 22211794 )
2012
74
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. ( 22438180 )
2012
75
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. ( 23426833 )
2012
76
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
77
Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. ( 23042585 )
2012
78
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. ( 23059950 )
2012
79
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. ( 23042602 )
2012
80
Smith-Lemli-Opitz-syndrome. ( 23162303 )
2012
81
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. ( 22226660 )
2012
82
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. ( 23042642 )
2012
83
Smith-Lemli-Opitz syndrome. ( 21777499 )
2011
84
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. ( 21817059 )
2011
85
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. ( 21864209 )
2011
86
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. ( 21626671 )
2011
87
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 21595006 )
2011
88
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. ( 21724437 )
2011
89
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. ( 21402677 )
2011
90
Adrenal function in Smith-Lemli-Opitz syndrome. ( 21990131 )
2011
91
Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome. ( 20147702 )
2010
92
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). ( 20440536 )
2010
93
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? ( 20556518 )
2010
94
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. ( 20104611 )
2010
95
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 20014133 )
2010
96
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. ( 20067919 )
2010
97
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. ( 20238050 )
2010
98
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
99
Smith-Lemli-Opitz syndrome: autopsy with new morphological findings. ( 21284323 )
2010
100
Idiopathic persistent pulmonary hypertension in an infant with Smith-Lemli-Opitz syndrome. ( 21043560 )
2010
101
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 20804844 )
2010
102
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. ( 20670678 )
2010
103
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. ( 19365639 )
2010
104
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. ( 20052364 )
2010
105
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. ( 20635399 )
2010
106
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. ( 20702862 )
2010
107
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. ( 19430384 )
2009
108
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
109
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. ( 19101685 )
2009
110
[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. ( 19856245 )
2009
111
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. ( 19390132 )
2009
112
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
113
What's Your Diagnosis? - Smith-Lemli-Opitz syndrome. ( 19928734 )
2009
114
Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. ( 17378665 )
2008
115
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. ( 18381059 )
2008
116
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. ( 18285838 )
2008
117
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. ( 18776754 )
2008
118
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 18556335 )
2008
119
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. ( 18775956 )
2008
120
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. ( 18776762 )
2008
121
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. ( 18346920 )
2008
122
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. ( 17965227 )
2008
123
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
124
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. ( 18442819 )
2008
125
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. ( 18249054 )
2008
126
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
127
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. ( 18344409 )
2008
128
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. ( 18076100 )
2008
129
Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. ( 19886368 )
2008
130
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. ( 17197219 )
2007
131
Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. ( 17347909 )
2007
132
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). ( 17286308 )
2007
133
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. ( 17441222 )
2007
134
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 17497248 )
2007
135
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 17714750 )
2007
136
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). ( 17702049 )
2007
137
Smith-Lemli-Opitz syndrome and autism spectrum disorder. ( 17974928 )
2007
138
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. ( 18006960 )
2007
139
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. ( 17341417 )
2007
140
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. ( 17994283 )
2007
141
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome. ( 17314682 )
2007
142
Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. ( 18188427 )
2007
143
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. ( 17365127 )
2007
144
[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. ( 17650909 )
2007
145
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. ( 16832833 )
2006
146
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. ( 16618793 )
2006
147
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. ( 16360150 )
2006
148
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. ( 16451140 )
2006
149
Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. ( 16458195 )
2006
150
A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis. ( 16831310 )
2006
151
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. ( 16258167 )
2006
152
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. ( 16490099 )
2006
153
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. ( 16983147 )
2006
154
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. ( 16678134 )
2006
155
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. ( 16761297 )
2006
156
Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. ( 16702508 )
2006
157
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? ( 16906538 )
2006
158
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. ( 16199034 )
2006
159
School in photodermatology: Smith-Lemli-Opitz syndrome. ( 16869869 )
2006
160
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. ( 16814115 )
2006
161
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. ( 16446309 )
2006
162
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
163
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. ( 16392899 )
2005
164
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. ( 15805162 )
2005
165
Recent insights into the Smith-Lemli-Opitz syndrome. ( 16207203 )
2005
166
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. ( 15877207 )
2005
167
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. ( 15774833 )
2005
168
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. ( 16280635 )
2005
169
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. ( 15670717 )
2005
170
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. ( 15952211 )
2005
171
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? ( 15965973 )
2005
172
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. ( 15896653 )
2005
173
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 15954111 )
2005
174
Surgical implications of the Smith-Lemli-Opitz syndrome. ( 15834578 )
2005
175
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. ( 15702407 )
2005
176
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. ( 16435228 )
2005
177
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. ( 16044199 )
2005
178
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. ( 15979035 )
2005
179
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
180
[Smith-Lemli-Opitz syndrome]. ( 16327658 )
2005
181
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
182
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. ( 14605787 )
2004
183
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. ( 15319461 )
2004
184
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. ( 14715377 )
2004
185
Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report. ( 15633366 )
2004
186
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. ( 15514417 )
2004
187
Smith-Lemli-Opitz syndrome. ( 15181308 )
2004
188
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. ( 15302661 )
2004
189
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. ( 15521979 )
2004
190
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 14981719 )
2004
191
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. ( 15480380 )
2004
192
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. ( 15005800 )
2004
193
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. ( 15286151 )
2004
194
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. ( 15192627 )
2004
195
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. ( 15464432 )
2004
196
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. ( 14594996 )
2004
197
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
198
Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II. ( 15170811 )
2004
199
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. ( 12833423 )
2003
200
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( 12850625 )
2003
201
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. ( 12887150 )
2003
202
Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. ( 12949967 )
2003
203
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. ( 14556255 )
2003
204
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. ( 12906934 )
2003
205
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. ( 14662594 )
2003
206
Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome. ( 12714790 )
2003
207
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. ( 12818773 )
2003
208
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
209
Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. ( 14604256 )
2003
210
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. ( 14659996 )
2003
211
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
212
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. ( 12475721 )
2003
213
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 12476463 )
2003
214
Smith-Lemli-Opitz syndrome and the DHCR7 gene. ( 12914579 )
2003
215
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
216
The challenge of providing continuity in the care of a disabled child: Smith-Lemli-Opitz syndrome. ( 12217226 )
2002
217
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. ( 12364550 )
2002
218
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. ( 12070263 )
2002
219
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. ( 12270273 )
2002
220
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. ( 12224080 )
2002
221
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. ( 11943798 )
2002
222
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. ( 11857552 )
2002
223
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. ( 12366604 )
2002
224
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. ( 12051964 )
2002
225
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. ( 12357175 )
2002
226
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. ( 12047895 )
2002
227
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. ( 11427181 )
2001
228
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( 11483057 )
2001
229
Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome. ( 11746018 )
2001
230
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. ( 11453964 )
2001
231
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. ( 11230174 )
2001
232
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 11503168 )
2001
233
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ( 11298379 )
2001
234
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11503169 )
2001
235
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. ( 11175299 )
2001
236
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. ( 11745994 )
2001
237
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. ( 11161831 )
2001
238
Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. ( 11566274 )
2001
239
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11260610 )
2001
240
DHCR7 and Smith-Lemli-Opitz syndrome. ( 11767235 )
2001
241
Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. ( 11266498 )
2001
242
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. ( 11254748 )
2001
243
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. ( 11167696 )
2001
244
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 11471166 )
2001
245
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. ( 11223857 )
2001
246
Smith-Lemli-Opitz syndrome. ( 11349693 )
2001
247
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. ( 11505445 )
2001
248
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
249
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. ( 10833186 )
2000
250
Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome. ( 10896307 )
2000
251
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. ( 10748414 )
2000
252
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. ( 10694693 )
2000
253
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. ( 10899806 )
2000
254
Anesthetic considerations in Smith-Lemli-Opitz syndrome. ( 10875719 )
2000
255
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
256
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. ( 11001807 )
2000
257
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. ( 10951458 )
2000
258
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. ( 11074502 )
2000
259
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. ( 10905895 )
2000
260
Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. ( 10947201 )
2000
261
Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol. ( 11032340 )
2000
262
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. ( 10995508 )
2000
263
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. ( 10896306 )
2000
264
The Smith-Lemli-Opitz syndrome. ( 10807690 )
2000
265
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. ( 10946022 )
2000
266
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. ( 11001806 )
2000
267
Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities. ( 11128747 )
2000
268
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. ( 10710236 )
2000
269
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. ( 11186897 )
2000
270
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
271
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. ( 10677299 )
2000
272
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. ( 11111101 )
2000
273
Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. ( 10974051 )
2000
274
Smith-Lemli-Opitz syndrome: case report and literature review. ( 11101752 )
2000
275
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
276
Incidence of Smith-Lemli-Opitz syndrome in Slovakia. ( 10678669 )
2000
277
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. ( 10439827 )
1999
278
Photosensitivity in the Smith-Lemli-Opitz syndrome. ( 10599969 )
1999
279
Biochemical variants of Smith-Lemli-Opitz syndrome. ( 10405455 )
1999
280
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. ( 10073912 )
1999
281
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. ( 10084612 )
1999
282
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
283
RSH (so-called Smith-Lemli-Opitz) syndrome. ( 10439210 )
1999
284
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. ( 10443904 )
1999
285
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. ( 10564872 )
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
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. ( 10327249 )
1999
288
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
289
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. ( 10631931 )
1999
290
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. ( 10327280 )
1999
291
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
292
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. ( 10069707 )
1999
293
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. ( 10411425 )
1999
294
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
295
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. ( 10583043 )
1999
296
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. ( 10069708 )
1999
297
Antenatal therapy of Smith-Lemli-Opitz syndrome. ( 10364662 )
1999
298
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. ( 10627944 )
1999
299
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. ( 10591424 )
1999
300
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. ( 10215064 )
1999
301
Smith-Lemli-Opitz syndrome in Japan. ( 9450870 )
1998
302
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. ( 9706645 )
1998
303
RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly. ( 9475598 )
1998
304
7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. ( 9548596 )
1998
305
Photosensitivity associated with the Smith-Lemli-Opitz syndrome. ( 9666840 )
1998
306
Cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 9714443 )
1998
307
Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. ( 9634533 )
1998
308
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
309
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. ( 9714007 )
1998
310
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. ( 9714006 )
1998
311
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. ( 9880216 )
1998
312
Abnormal cholesterol biosynthesis produced by AY 9944 in the rat leads to skeletal deformities similar to the Smith-Lemli-Opitz syndrome. ( 9523840 )
1998
313
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. ( 9678700 )
1998
314
Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. ( 9653161 )
1998
315
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. ( 9683618 )
1998
316
Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. ( 9856557 )
1998
317
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. ( 9523845 )
1998
318
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. ( 9683613 )
1998
319
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 9602484 )
1998
320
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. ( 9061771 )
1997
321
MRI in Smith-Lemli-Opitz syndrome type I. ( 9083702 )
1997
322
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) ( 9024564 )
1997
323
Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. ( 9024563 )
1997
324
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. ( 9266395 )
1997
325
Smith-Lemli-Opitz syndrome: further delineation of the phenotype. ( 9220198 )
1997
326
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. ( 9024565 )
1997
327
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. ( 9024560 )
1997
328
Cardiovascular malformations in Smith-Lemli-Opitz syndrome. ( 9024558 )
1997
329
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. ( 9090293 )
1997
330
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. ( 9024557 )
1997
331
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. ( 8990234 )
1997
332
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. ( 9024561 )
1997
333
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
334
Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. ( 9024567 )
1997
335
New treatment strategy for Smith-Lemli-Opitz syndrome. ( 9130950 )
1997
336
Phenotypic diversity in the Smith-Lemli-Opitz syndrome. ( 9018421 )
1997
337
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. ( 9024568 )
1997
338
Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome. ( 9024556 )
1997
339
MRI in Smith-Lemli-Opitz syndrome type 1. ( 9403196 )
1997
340
Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. ( 9024555 )
1997
341
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
342
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
343
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8808751 )
1996
344
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. ( 8987154 )
1996
345
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. ( 8831138 )
1996
346
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). ( 8726234 )
1996
347
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
348
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
349
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. ( 8884563 )
1996
350
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? ( 8989473 )
1996
351
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
352
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
353
Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 8659752 )
1996
354
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. ( 10829981 )
1996
355
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. ( 8863875 )
1996
356
Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids. ( 8737829 )
1996
357
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. ( 8766772 )
1996
358
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. ( 7762564 )
1995
359
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. ( 7595082 )
1995
360
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
361
Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. ( 8656079 )
1995
362
Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. ( 7557099 )
1995
363
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8919321 )
1995
364
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
365
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. ( 8559757 )
1995
366
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778587 )
1995
367
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. ( 8533850 )
1995
368
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. ( 7778588 )
1995
369
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. ( 8776024 )
1995
370
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. ( 7778589 )
1995
371
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. ( 7664465 )
1995
372
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. ( 7616117 )
1995
373
Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry. ( 7720244 )
1995
374
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. ( 7706951 )
1995
375
Anesthesia-induced rigidity, unrelated to succinylcholine, associated with Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 7864433 )
1995
376
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778591 )
1995
377
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. ( 7608816 )
1995
378
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. ( 7603789 )
1995
379
Unusual case of Smith-Lemli-Opitz syndrome "type II". ( 7778586 )
1995
380
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. ( 7778590 )
1995
381
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
382
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177281 )
1994
383
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. ( 8259166 )
1994
384
Abnormal bile acids in the Smith-Lemli-Opitz syndrome. ( 8209917 )
1994
385
Picture of the month. Smith-Lemli-Opitz syndrome. ( 7921121 )
1994
386
RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. ( 8209916 )
1994
387
Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report. ( 7699276 )
1994
388
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. ( 8116676 )
1994
389
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. ( 8209919 )
1994
390
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177282 )
1994
391
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. ( 7632194 )
1994
392
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. ( 8209918 )
1994
393
Smith-Lemli-Opitz Syndrome ( 20301322 )
1993
394
Cholesterol defect in Smith-Lemli-Opitz syndrome. ( 8256825 )
1993
395
Gonadal function in Smith-Lemli-Opitz syndrome. ( 8418647 )
1993
396
Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings. ( 8469589 )
1993
397
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. ( 7684480 )
1993
398
Smith-Lemli-Opitz syndrome. ( 8244478 )
1993
399
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. ( 1392379 )
1992
400
Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. ( 1354158 )
1992
401
Smith-Lemli-Opitz syndrome in siblings. ( 1389317 )
1992
402
Smith-Lemli-Opitz syndrome: the changing phenotype with age. ( 1642814 )
1992
403
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. ( 1605242 )
1992
404
Smith-Lemli-Opitz syndrome in female, monozygotic twins. ( 1773539 )
1991
405
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. ( 1849804 )
1991
406
A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. ( 2038028 )
1991
407
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. ( 2309789 )
1990
408
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? ( 2395167 )
1990
409
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). ( 2596525 )
1989
410
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. ( 2729358 )
1989
411
Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome. ( 2542142 )
1989
412
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. ( 2831368 )
1988
413
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. ( 3812577 )
1987
414
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? ( 3425639 )
1987
415
Nosology of Smith-Lemli-Opitz syndrome. ( 3322012 )
1987
416
Smith-Lemli-Opitz syndrome. ( 3425638 )
1987
417
The nosology of the Smith-Lemli-Opitz Syndrome. ( 3425637 )
1987
418
Two cases of severe lethal Smith-Lemli-Opitz syndrome. ( 3812579 )
1987
419
Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. ( 3560332 )
1987
420
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. ( 3611634 )
1987
421
Female external genitalia and mA1llerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. ( 3322011 )
1987
422
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. ( 3612721 )
1987
423
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. ( 3712395 )
1986
424
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. ( 3018967 )
1985
425
Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 )
1985
426
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. ( 3934624 )
1985
427
Smith-Lemli-Opitz syndrome and Hirschsprung disease. ( 6737144 )
1984
428
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. ( 6713715 )
1984
429
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. ( 6437074 )
1984
430
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. ( 6886911 )
1983
431
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. ( 6858679 )
1983
432
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. ( 6859094 )
1983
433
Ocular manifestations of the Smith-Lemli-Opitz syndrome. ( 7295150 )
1981
434
Postlenticular membrane associated with Smith-Lemli-Opitz syndrome. ( 443339 )
1979
435
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977
436
The Smith-Lemli-Opitz syndrome in a five months old child. ( 614986 )
1977
437
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. ( 862305 )
1977
438
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. ( 844667 )
1977
439
Smith-Lemli-Opitz syndrome: review and report of two affected siblings. ( 166525 )
1975
440
The pathological anatomy of the Smith-Lemli-Opitz syndrome. ( 1149307 )
1975
441
Smith-Lemli-Opitz syndrome: two further cases. ( 1110157 )
1975
442
Three sisters with the Smith-Lemli-Opitz syndrome. ( 4213791 )
1974
443
Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings. ( 4147088 )
1973
444
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. ( 4664661 )
1972
445
Smith-Lemli-Opitz syndrome in an adult. ( 4153066 )
1972
446
Smith-Lemli-Opitz syndrome in an inbred family. ( 5056882 )
1972
447
Cataracts in the Smith-Lemli-Opitz syndrome. ( 4330375 )
1971
448
The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy. ( 5098076 )
1971
449
Smith-Lemli-Opitz syndrome with cardiovascular abnormality. ( 5573870 )
1971
450
The Smith-Lemli-Opitz syndrome. ( 5096180 )
1971
451
Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome. ( 5809847 )
1969
452
Smith-Lemli-Opitz syndrome in a negro child. ( 5762893 )
1969
453
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. ( 4389828 )
1969
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Smith-Lemli-Opitz syndrome. ( 5349196 )
1969
455
The Smith-Lemli-Opitz syndrome in an adult male. ( 5363344 )
1969
456
Picture of the month. Smith-Lemli-Opitz syndrome. ( 5689489 )
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457
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. ( 5642353 )
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458
Smith-Lemli-Opitz syndrome. Case report. ( 5303264 )
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Smith-Lemli-Opitz syndrome. ( 5708286 )
1968
460
Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome. ( 4386913 )
1968
461
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:

71 (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 58, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
2 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
3 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
4 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
5 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
6 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
7 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
8 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Pathogenic/Likely pathogenic rs398123607 GRCh37 Chromosome 11, 71148980: 71148980
9 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
10 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
11 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
12 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
13 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
14 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
15 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
16 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
17 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
18 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
19 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
20 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
21 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
22 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
23 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
24 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
25 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
26 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
27 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
28 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
29 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
30 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
31 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
32 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
33 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
34 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
35 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
36 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh38 Chromosome 11, 71435407: 71435407
37 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
38 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
39 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
40 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
41 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
42 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh37 Chromosome 11, 71146783: 71146783
43 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh38 Chromosome 11, 71435808: 71435808
44 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh38 Chromosome 11, 71435812: 71435812
45 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh37 Chromosome 11, 71146868: 71146868
46 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh37 Chromosome 11, 71148856: 71148856
47 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh37 Chromosome 11, 71148857: 71148857
48 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh38 Chromosome 11, 71438877: 71438877
49 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh37 Chromosome 11, 71149952: 71149952
50 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130
51 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh38 Chromosome 11, 71441441: 71441441
52 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Likely pathogenic rs746482788 GRCh38 Chromosome 11, 71442258: 71442290
53 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh38 Chromosome 11, 71444871: 71444871
54 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh38 Chromosome 11, 71444937: 71444937
55 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh38 Chromosome 11, 71435475: 71435475
56 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Pathogenic rs200334114 GRCh37 Chromosome 11, 71155910: 71155910
57 DHCR7 NM_001360.2(DHCR7): c.1337G> A (p.Arg446Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751604696 GRCh37 Chromosome 11, 71146512: 71146512
58 DHCR7 NM_001360.2(DHCR7): c.970T> C (p.Tyr324His) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 71435833: 71435833

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:

36
(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
12.51 ABCA1 FDFT1 HMGCR HMGCS2
3
Show member pathways
11.99 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 10.96 APOE LDLR
9
Show member pathways
10.87 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 7, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.72 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 9.37 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

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

(showing 31, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2 regulation of lipid metabolic process GO:0019216 9.73 ABCA1 FDFT1 HMGCR HMGCS2
3 cholesterol homeostasis GO:0042632 9.7 ABCA1 APOE LDLR
4 regulation of cholesterol biosynthetic process GO:0045540 9.67 DHCR7 FDFT1 HMGCR
5 steroid biosynthetic process GO:0006694 9.67 DHCR7 FDFT1 HMGCR HMGCS2
6 phospholipid transport GO:0015914 9.65 ABCA1 LDLR
7 negative regulation of MAP kinase activity GO:0043407 9.65 APOE HMGCR
8 long-term memory GO:0007616 9.64 APOE LDLR
9 cholesterol transport GO:0030301 9.64 ABCA1 LDLR
10 cholesterol efflux GO:0033344 9.63 ABCA1 APOE
11 positive regulation of endocytosis GO:0045807 9.63 APOE LDLR
12 lipoprotein metabolic process GO:0042157 9.63 ABCA1 APOE LDLR
13 myoblast differentiation GO:0045445 9.62 HMGCR SHH
14 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.62 ABCA1 LDLR
15 cholesterol biosynthetic process GO:0006695 9.62 DHCR7 FDFT1 HMGCR HMGCS2
16 reverse cholesterol transport GO:0043691 9.61 ABCA1 APOE
17 positive regulation of cholesterol efflux GO:0010875 9.61 ABCA1 APOE
18 high-density lipoprotein particle assembly GO:0034380 9.6 ABCA1 APOE
19 phospholipid efflux GO:0033700 9.59 ABCA1 APOE
20 regulation of cholesterol metabolic process GO:0090181 9.58 APOE LDLR
21 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
22 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
23 positive regulation of skeletal muscle tissue development GO:0048643 9.57 HMGCR SHH
24 chylomicron remnant clearance GO:0034382 9.56 APOE LDLR
25 sterol biosynthetic process GO:0016126 9.56 DHCR7 FDFT1 HMGCR HMGCS2
26 regulation of Cdc42 protein signal transduction GO:0032489 9.55 ABCA1 APOE
27 lipoprotein biosynthetic process GO:0042158 9.54 ABCA1 APOE
28 lipoprotein catabolic process GO:0042159 9.51 APOE LDLR
29 cholesterol metabolic process GO:0008203 9.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
30 response to caloric restriction GO:0061771 9.48 APOE LDLR
31 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 3, show less)
# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.16 ABCA1 APOE
2 NADP binding GO:0050661 8.96 DHCR7 HMGCR
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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