MCID: SMT004
MIFTS: 69

Smith-Lemli-Opitz Syndrome

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

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Rsh Syndrome 23 50 24 25 56 71
Slos 23 50 24 25 56 71
Slo Syndrome 23 50 24 25 71
7-Dehydrocholesterol Reductase Deficiency 50 25 56 69
Rutledge Lethal Multiple Congenital Anomaly Syndrome 12 50 71
Smith Lemli Opitz Syndrome 50 24
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 50
Smith-Lemli-Opitz Syndrome, Type Ii 69
Lethal Acrodysgenital Syndrome 50
Smith-Opitz-Inborn Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 54 270400
Disease Ontology 12 DOID:14692
ICD10 33 E78.72
MeSH 42 D019082
NCIt 47 C85071
SNOMED-CT 64 43929004
Orphanet 56 ORPHA818
MESH via Orphanet 43 D019082
UMLS via Orphanet 70 C0175694 C2713347
ICD10 via Orphanet 34 Q87.1
SNOMED-CT via HPO 65 204962002 82525005 258211005 more
UMLS 69 C0175694

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 54
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 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome and lathosterolosis, and has symptoms including short stature, scoliosis and optic atrophy. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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

NIH Rare Diseases : 50 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

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.

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

Wikipedia : 72 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error... more...

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

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

(showing 62, show less)
id Related Disease Score Top Affiliating Genes
1 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.3
2 lathosterolosis 11.6
3 greenberg skeletal dysplasia 11.3
4 retinitis 10.6
5 retinal degeneration 10.5
6 cataract 10.4
7 dyschromatosis universalis hereditaria 10.3 SHH STS
8 malignant hyperthermia 10.3
9 holoprosencephaly 10.3
10 autism spectrum disorder 10.3
11 polydactyly 10.3
12 neuronitis 10.3
13 hepatitis 10.2
14 achalasia 10.2
15 birth defects 10.2
16 sclerocornea 10.2
17 5-alpha reductase deficiency 10.2
18 heart disease 10.2
19 dwarfism 10.2
20 germ cells tumors 10.2
21 cholestasis 10.2
22 precocious puberty 10.2
23 polyneuropathy 10.2
24 pulmonary vein stenosis 10.2
25 cerebrotendinous xanthomatosis 10.2
26 hypothyroidism 10.2
27 mixed germ cell tumor 10.2
28 pallister-hall syndrome 10.2
29 xanthomatosis 10.2
30 renal dysplasia 10.2
31 cerebritis 10.2
32 hydrolethalus syndrome 10.2
33 down syndrome 10.2
34 pseudohermaphroditism 10.2
35 conjunctivitis 10.2
36 pulmonary hypertension 10.2
37 sitosterolemia 10.1 FDFT1 HMGCR
38 retinal arteries, tortuosity of 9.9 APOE HMGCR
39 hypercholesterolemia, due to ligand-defective apo b 9.8 APOE LDLR
40 mental retardation, autosomal dominant 45 9.8 APOE LDLR
41 hyperlipidemia, familial combined 9.7 APOE HMGCR
42 bird fancier's lung 9.7 ABCA1 APOE
43 hypobetalipoproteinemia 9.6 APOE LDLR
44 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.6 APOE HMGCR LDLR
45 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.6 APOE HMGCR LDLR
46 alzheimer disease-2 9.5 APOE HMGCR LDLR
47 malignant fibrous histiocytoma of bone 9.5 APOE HMGCR LDLR
48 acute apical periodontitis 9.5 APOE HMGCR LDLR
49 stone in bladder diverticulum 9.5 APOE LDLR
50 skin squamous cell carcinoma 9.5 APOE HMGCR LDLR
51 autoimmune hepatitis 9.4 APOE HMGCR LDLR
52 arthritis 9.3 ABCA1 APOE LDLR
53 pericarditis 9.3 APOE HMGCR LDLR
54 apolipoprotein c-iii deficiency 9.3 ABCA1 APOE LDLR
55 lissencephaly 6, with microcephaly 9.3 ABCA1 APOE LDLR
56 peripheral artery disease 9.3 ABCA1 APOE LDLR
57 fish-eye disease 9.2 APOE LDLR
58 macular degeneration, age-related, 1 9.1 ABCA1 APOE KCNMA1
59 codas syndrome 9.0 ABCA1 APOE HMGCR LDLR
60 macular degeneration, age-related, 12 9.0 ABCA1 APOE HMGCR LDLR
61 myocardial infarction 8.9 ABCA1 APOE HMGCR LDLR
62 hemochromatosis, type 5 6.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
mental retardation
seizures
hydrocephalus
frontal lobe hypoplasia
hypotonia (early infancy)
more
Head And Neck- Head:
microcephaly

Head And Neck- Face:
micrognathia
bitemporal narrowing

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

Cardiovascular- Vascular:
patent ductus arteriosus
coarctation of aorta

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

Genitourinary- Kidneys:
hydronephrosis
cystic kidneys
renal agenesis
single kidney

Prenatal Manifestations- Delivery:
breech presentation

Skeletal- Feet:
postaxial polydactyly
metatarsus adductus
syndactyly of second and third toes
overriding toes
talipes calcaneovalgus
more
Genitourinary- Ureters:
ureteropelvic junction obstruction

Respiratory- Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Skin Nails & Hair- Skin:
eczema
severe photosensitivity
facial capillary hemangioma

Skeletal- Limbs:
limb shortening

Skin Nails & Hair- Hair:
blonde hair

Laboratory- Abnormalities:
low cholesterol
elevated 7-dehydrocholesterol

Growth- Other:
failure to thrive

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

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

Genitourinary- External Genitalia Male:
ambiguous genitalia
micropenis
hypospadias
bifid scrotum
hypoplastic scrotum
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Skeletal- Pelvis:
hip dislocation
hip subluxation

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neurologic- Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Skeletal- Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Prenatal Manifestations- Movement:
decreased fetal movement

Skeletal:
stippled epiphyses

Head And Neck- Teeth:
dental crowding
large central front teeth

Growth- Weight:
birth weight <2500gm

Voice:
shrill screaming


Clinical features from OMIM:

270400

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

56 32 (showing 159, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 recurrent infections 56 32 frequent (33%) Frequent (79-30%) HP:0002719
6 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
7 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
8 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
11 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
12 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
13 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 ambiguous genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0000062
15 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
16 proptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000520
17 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
18 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
19 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
20 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
21 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
22 pulmonary hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002089
23 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
24 polyhydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001561
25 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
26 hip dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0002827
27 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
28 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
29 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
30 sclerocornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000647
31 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
32 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
33 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
34 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
35 cutis marmorata 56 32 frequent (33%) Frequent (79-30%) HP:0000965
36 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
37 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
38 ventricular septal defect 56 32 frequent (33%) Frequent (79-30%) HP:0001629
39 autism 56 32 frequent (33%) Frequent (79-30%) HP:0000717
40 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
41 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
42 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
43 self-injurious behavior 56 32 frequent (33%) Frequent (79-30%) HP:0100716
44 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
45 microglossia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000171
46 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
47 ureteropelvic junction obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0000074
48 holoprosencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001360
49 mesomelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003027
50 rhizomelia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008905
51 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
52 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
53 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
54 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
55 tracheal stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0002777
56 2-3 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0004691
57 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
58 pyloric stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002021
59 abnormal lung lobation 56 32 frequent (33%) Frequent (79-30%) HP:0002101
60 split hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0001171
61 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
62 attention deficit hyperactivity disorder 56 32 frequent (33%) Frequent (79-30%) HP:0007018
63 biparietal narrowing 56 32 frequent (33%) Frequent (79-30%) HP:0004422
64 atrioventricular canal defect 56 32 frequent (33%) Frequent (79-30%) HP:0006695
65 talipes calcaneovalgus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001884
66 facial capillary hemangioma 56 32 frequent (33%) Frequent (79-30%) HP:0000996
67 elevated 7-dehydrocholesterol 56 32 hallmark (90%) Very frequent (99-80%) HP:0010569
68 gastroschisis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001543
69 gingival overgrowth 56 32 frequent (33%) Frequent (79-30%) HP:0000212
70 cutaneous photosensitivity 56 32 frequent (33%) Frequent (79-30%) HP:0000992
71 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
72 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
73 abnormal dermatoglyphics 56 32 hallmark (90%) Very frequent (99-80%) HP:0007477
74 abnormality of the gallbladder 56 32 occasional (7.5%) Occasional (29-5%) HP:0005264
75 abnormal form of the vertebral bodies 56 32 occasional (7.5%) Occasional (29-5%) HP:0003312
76 wide intermamillary distance 56 32 frequent (33%) Frequent (79-30%) HP:0006610
77 aplasia/hypoplasia of the cerebellum 56 32 frequent (33%) Frequent (79-30%) HP:0007360
78 abnormality of the eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000499
79 hypopigmentation of hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0005599
80 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
81 multicystic kidney dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000003
82 increased number of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0011069
83 upslanted palpebral fissure 56 32 occasional (7.5%) Occasional (29-5%) HP:0000582
84 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
85 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
86 reduced number of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0009804
87 abnormality of dental morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0006482
88 increased nuchal translucency 56 32 hallmark (90%) Very frequent (99-80%) HP:0010880
89 ulnar deviation of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0009465
90 aplasia/hypoplasia affecting the eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0008056
91 proximal placement of thumb 56 32 frequent (33%) Frequent (79-30%) HP:0009623
92 abnormal localization of kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0100542
93 advanced eruption of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0006288
94 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
95 postaxial hand polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001162
96 postaxial foot polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001830
97 aplasia/hypoplasia of the radius 56 32 occasional (7.5%) Occasional (29-5%) HP:0006501
98 abnormality of the larynx 56 32 frequent (33%) Frequent (79-30%) HP:0001600
99 bifid tongue 56 32 occasional (7.5%) Occasional (29-5%) HP:0010297
100 failure to thrive 32 HP:0001508
101 brachydactyly 32 occasional (7.5%) HP:0001156
102 hydrocephalus 32 HP:0000238
103 low-set ears 32 HP:0000369
104 depressed nasal bridge 32 HP:0005280
105 micropenis 32 HP:0000054
106 atrial septal defect 32 frequent (33%) HP:0001631
107 premature birth 32 HP:0001622
108 posteriorly rotated ears 32 HP:0000358
109 vomiting 32 HP:0002013
110 clitoromegaly 56 Frequent (79-30%)
111 breech presentation 32 HP:0001623
112 hypoplasia of the corpus callosum 32 HP:0002079
113 hyperactivity 32 HP:0000752
114 aggressive behavior 32 HP:0000718
115 self-mutilation 32 HP:0000742
116 coarctation of aorta 32 HP:0001680
117 bifid scrotum 32 HP:0000048
118 constipation 32 HP:0002019
119 cholestatic liver disease 32 HP:0002611
120 renal agenesis 32 HP:0000104
121 dandy-walker malformation 32 HP:0001305
122 hip subluxation 32 HP:0030043
123 bicornuate uterus 32 HP:0000813
124 renal hypoplasia 32 HP:0000089
125 narrow forehead 32 HP:0000341
126 sleep-wake cycle disturbance 32 HP:0006979
127 gastrointestinal dysmotility 32 HP:0002579
128 intestinal malrotation 32 HP:0002566
129 scrotal hypoplasia 32 HP:0000046
130 generalized hypotonia 32 HP:0001290
131 micromelia 32 HP:0002983
132 decreased fetal movement 32 HP:0001558
133 metatarsus adductus 32 HP:0001840
134 poor suck 32 HP:0002033
135 eczema 32 HP:0000964
136 short thumb 32 HP:0009778
137 recurrent otitis media 32 HP:0000403
138 clitoral hypertrophy 32 frequent (33%) HP:0008665
139 dental crowding 32 HP:0000678
140 precocious puberty 32 HP:0000826
141 hearing impairment 32 HP:0000365
142 hypocholesterolemia 32 HP:0003146
143 broad alveolar ridges 32 HP:0000187
144 septate vagina 32 HP:0001153
145 growth delay 56 Very frequent (99-80%)
146 somnolence 56 Frequent (79-30%)
147 severe photosensitivity 32 HP:0007537
148 sleep disturbance 56 Frequent (79-30%)
149 renal cyst 32 HP:0000107
150 epiphyseal stippling 32 HP:0010655
151 malformation of the heart and great vessels 56 Frequent (79-30%)
152 atria septal defect 56 Frequent (79-30%)
153 short toe 32 HP:0001831
154 brachydactyly syndrome 56 Occasional (29-5%)
155 hammertoe 32 HP:0001765
156 periventricular gray matter heterotopia 32 HP:0007165
157 overlapping toe 32 HP:0001845
158 hypoplasia of the frontal lobes 32 HP:0007333
159 excessive daytime somnolence 32 frequent (33%) HP:0001262

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


constipation, seizures, vomiting

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

26
id 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:

44 (showing 8, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 SHH ABCA1 APOE DHCR7 FDFT1 HMGCR
2 cardiovascular system MP:0005385 9.91 KCNMA1 LDLR SHH ABCA1 APOE DHCR7
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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
Benzocaine Approved 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)

id 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 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
4 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
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:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 29 24 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

39
Lung, Kidney, Heart, Eye, Bone, Skin, Tongue

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(showing 456, show less)
id Title Authors Year
1
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
2
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
3
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
4
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
5
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
6
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
7
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
8
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
9
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
10
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
11
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
12
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
13
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
14
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
15
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
16
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
17
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
18
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
19
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
20
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
21
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
22
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
23
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
24
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
25
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
26
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
27
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
28
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
29
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
30
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
31
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
32
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
33
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
34
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
35
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
36
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
37
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
38
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
39
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. ( 23022980 )
2013
40
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). ( 23595802 )
2013
41
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. ( 22718275 )
2013
42
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. ( 22929031 )
2013
43
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2013
44
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. ( 23072947 )
2013
45
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 23979708 )
2013
46
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. ( 23859856 )
2013
47
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. ( 23828810 )
2013
48
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
49
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. ( 23918729 )
2013
50
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. ( 23361583 )
2013
51
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. ( 24296449 )
2013
52
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. ( 23422574 )
2013
53
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. ( 23319240 )
2013
54
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
55
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. ( 23321614 )
2013
56
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. ( 23541496 )
2013
57
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? ( 24533230 )
2013
58
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
59
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
60
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
61
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. ( 23042573 )
2012
62
DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. ( 22182693 )
2012
63
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
64
Smith-Lemli-Opitz-syndrome. ( 23162303 )
2012
65
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. ( 22211794 )
2012
66
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
67
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. ( 22391996 )
2012
68
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. ( 23426833 )
2012
69
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. ( 23042642 )
2012
70
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. ( 23293579 )
2012
71
Mutational spectrum of Smith-Lemli-Opitz syndrome. ( 23042628 )
2012
72
Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. ( 23042585 )
2012
73
Growth charts for individuals with Smith-Lemli-Opitz syndrome. ( 22615010 )
2012
74
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. ( 23042602 )
2012
75
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. ( 22438180 )
2012
76
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. ( 23059950 )
2012
77
Smith-Lemli-Opitz syndrome among Arabs. ( 21696385 )
2012
78
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. ( 22226660 )
2012
79
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. ( 21724437 )
2011
80
Smith-Lemli-Opitz syndrome. ( 21777499 )
2011
81
Adrenal function in Smith-Lemli-Opitz syndrome. ( 21990131 )
2011
82
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. ( 21402677 )
2011
83
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 21595006 )
2011
84
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. ( 21817059 )
2011
85
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. ( 21626671 )
2011
86
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. ( 21864209 )
2011
87
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. ( 20067919 )
2010
88
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). ( 20440536 )
2010
89
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. ( 19365639 )
2010
90
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? ( 20556518 )
2010
91
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. ( 20052364 )
2010
92
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
93
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 20014133 )
2010
94
Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome. ( 20147702 )
2010
95
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 20804844 )
2010
96
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. ( 20702862 )
2010
97
Idiopathic persistent pulmonary hypertension in an infant with Smith-Lemli-Opitz syndrome. ( 21043560 )
2010
98
Smith-Lemli-Opitz syndrome: autopsy with new morphological findings. ( 21284323 )
2010
99
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. ( 20635399 )
2010
100
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. ( 20670678 )
2010
101
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. ( 20104611 )
2010
102
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. ( 20238050 )
2010
103
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. ( 19430384 )
2009
104
What's Your Diagnosis? - Smith-Lemli-Opitz syndrome. ( 19928734 )
2009
105
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
106
[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. ( 19856245 )
2009
107
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. ( 19101685 )
2009
108
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
109
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. ( 19390132 )
2009
110
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 18556335 )
2008
111
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
112
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. ( 18285838 )
2008
113
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. ( 18076100 )
2008
114
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. ( 18776762 )
2008
115
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. ( 18775956 )
2008
116
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. ( 18249054 )
2008
117
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
118
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. ( 18776754 )
2008
119
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. ( 18442819 )
2008
120
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. ( 18381059 )
2008
121
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. ( 18344409 )
2008
122
Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. ( 17378665 )
2008
123
Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. ( 19886368 )
2008
124
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. ( 17965227 )
2008
125
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. ( 18346920 )
2008
126
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome. ( 17314682 )
2007
127
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 17714750 )
2007
128
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. ( 17994283 )
2007
129
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. ( 17365127 )
2007
130
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. ( 18006960 )
2007
131
Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. ( 17347909 )
2007
132
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. ( 17341417 )
2007
133
Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. ( 18188427 )
2007
134
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. ( 17441222 )
2007
135
Smith-Lemli-Opitz syndrome and autism spectrum disorder. ( 17974928 )
2007
136
[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. ( 17650909 )
2007
137
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). ( 17286308 )
2007
138
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). ( 17702049 )
2007
139
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 17497248 )
2007
140
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. ( 17197219 )
2007
141
School in photodermatology: Smith-Lemli-Opitz syndrome. ( 16869869 )
2006
142
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. ( 16618793 )
2006
143
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. ( 16446309 )
2006
144
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. ( 16832833 )
2006
145
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. ( 16258167 )
2006
146
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. ( 16983147 )
2006
147
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. ( 16199034 )
2006
148
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. ( 16814115 )
2006
149
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. ( 16678134 )
2006
150
Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. ( 16702508 )
2006
151
A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis. ( 16831310 )
2006
152
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. ( 16490099 )
2006
153
Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. ( 16458195 )
2006
154
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. ( 16451140 )
2006
155
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. ( 16360150 )
2006
156
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. ( 16761297 )
2006
157
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? ( 16906538 )
2006
158
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
159
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. ( 15805162 )
2005
160
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. ( 15952211 )
2005
161
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. ( 15774833 )
2005
162
Recent insights into the Smith-Lemli-Opitz syndrome. ( 16207203 )
2005
163
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
164
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. ( 16280635 )
2005
165
Surgical implications of the Smith-Lemli-Opitz syndrome. ( 15834578 )
2005
166
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. ( 15877207 )
2005
167
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. ( 16044199 )
2005
168
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. ( 15702407 )
2005
169
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. ( 15896653 )
2005
170
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. ( 15979035 )
2005
171
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. ( 16435228 )
2005
172
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. ( 15670717 )
2005
173
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? ( 15965973 )
2005
174
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
175
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. ( 16392899 )
2005
176
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 15954111 )
2005
177
[Smith-Lemli-Opitz syndrome]. ( 16327658 )
2005
178
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. ( 15192627 )
2004
179
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. ( 14715377 )
2004
180
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. ( 15005800 )
2004
181
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. ( 15521979 )
2004
182
Smith-Lemli-Opitz syndrome. ( 15181308 )
2004
183
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. ( 14594996 )
2004
184
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 14981719 )
2004
185
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. ( 15464432 )
2004
186
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. ( 15319461 )
2004
187
Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II. ( 15170811 )
2004
188
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. ( 15480380 )
2004
189
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. ( 15286151 )
2004
190
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. ( 15302661 )
2004
191
Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report. ( 15633366 )
2004
192
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
193
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. ( 14605787 )
2004
194
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. ( 12818773 )
2003
195
Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. ( 14604256 )
2003
196
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
197
Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome. ( 12714790 )
2003
198
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. ( 14662594 )
2003
199
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
200
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 12476463 )
2003
201
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( 12850625 )
2003
202
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. ( 12887150 )
2003
203
Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. ( 12949967 )
2003
204
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. ( 12475721 )
2003
205
Smith-Lemli-Opitz syndrome and the DHCR7 gene. ( 12914579 )
2003
206
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. ( 12833423 )
2003
207
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. ( 14556255 )
2003
208
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. ( 14659996 )
2003
209
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. ( 12906934 )
2003
210
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. ( 11943798 )
2002
211
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. ( 12047895 )
2002
212
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. ( 12070263 )
2002
213
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. ( 12224080 )
2002
214
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. ( 12051964 )
2002
215
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. ( 12364550 )
2002
216
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
217
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. ( 12270273 )
2002
218
The challenge of providing continuity in the care of a disabled child: Smith-Lemli-Opitz syndrome. ( 12217226 )
2002
219
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. ( 12357175 )
2002
220
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. ( 12366604 )
2002
221
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. ( 11857552 )
2002
222
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. ( 11453964 )
2001
223
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ( 11298379 )
2001
224
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( 11483057 )
2001
225
Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome. ( 11746018 )
2001
226
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. ( 11745994 )
2001
227
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. ( 11427181 )
2001
228
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. ( 11223857 )
2001
229
Smith-Lemli-Opitz syndrome. ( 11349693 )
2001
230
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. ( 11161831 )
2001
231
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 11503168 )
2001
232
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. ( 11230174 )
2001
233
Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. ( 11566274 )
2001
234
Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. ( 11266498 )
2001
235
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. ( 11505445 )
2001
236
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11503169 )
2001
237
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 11471166 )
2001
238
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. ( 11254748 )
2001
239
DHCR7 and Smith-Lemli-Opitz syndrome. ( 11767235 )
2001
240
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. ( 11175299 )
2001
241
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11260610 )
2001
242
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. ( 11167696 )
2001
243
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
244
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
245
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. ( 10995508 )
2000
246
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. ( 11074502 )
2000
247
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. ( 10677299 )
2000
248
Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. ( 10947201 )
2000
249
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. ( 10899806 )
2000
250
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. ( 11001807 )
2000
251
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. ( 10833186 )
2000
252
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
253
Incidence of Smith-Lemli-Opitz syndrome in Slovakia. ( 10678669 )
2000
254
Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. ( 10974051 )
2000
255
The Smith-Lemli-Opitz syndrome. ( 10807690 )
2000
256
Anesthetic considerations in Smith-Lemli-Opitz syndrome. ( 10875719 )
2000
257
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. ( 10946022 )
2000
258
Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities. ( 11128747 )
2000
259
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. ( 11186897 )
2000
260
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. ( 10748414 )
2000
261
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. ( 10951458 )
2000
262
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
263
Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol. ( 11032340 )
2000
264
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. ( 10694693 )
2000
265
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. ( 10905895 )
2000
266
Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome. ( 10896307 )
2000
267
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. ( 11001806 )
2000
268
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. ( 11111101 )
2000
269
Smith-Lemli-Opitz syndrome: case report and literature review. ( 11101752 )
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
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. ( 10896306 )
2000
272
RSH (so-called Smith-Lemli-Opitz) syndrome. ( 10439210 )
1999
273
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. ( 10215064 )
1999
274
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. ( 10439827 )
1999
275
Biochemical variants of Smith-Lemli-Opitz syndrome. ( 10405455 )
1999
276
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. ( 10583043 )
1999
277
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. ( 10327249 )
1999
278
Antenatal therapy of Smith-Lemli-Opitz syndrome. ( 10364662 )
1999
279
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
280
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. ( 10591424 )
1999
281
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
282
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. ( 10327280 )
1999
283
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. ( 10069707 )
1999
284
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
285
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
286
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. ( 10411425 )
1999
287
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. ( 10627944 )
1999
288
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. ( 10069708 )
1999
289
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. ( 10631931 )
1999
290
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. ( 10073912 )
1999
291
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. ( 10564872 )
1999
292
Photosensitivity in the Smith-Lemli-Opitz syndrome. ( 10599969 )
1999
293
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. ( 10084612 )
1999
294
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
295
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. ( 10443904 )
1999
296
RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly. ( 9475598 )
1998
297
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
298
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. ( 9714007 )
1998
299
Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. ( 9856557 )
1998
300
Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. ( 9634533 )
1998
301
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. ( 9880216 )
1998
302
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. ( 9683613 )
1998
303
7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. ( 9548596 )
1998
304
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. ( 9714006 )
1998
305
Abnormal cholesterol biosynthesis produced by AY 9944 in the rat leads to skeletal deformities similar to the Smith-Lemli-Opitz syndrome. ( 9523840 )
1998
306
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. ( 9523845 )
1998
307
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. ( 9706645 )
1998
308
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 9602484 )
1998
309
Smith-Lemli-Opitz syndrome in Japan. ( 9450870 )
1998
310
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. ( 9678700 )
1998
311
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. ( 9683618 )
1998
312
Cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 9714443 )
1998
313
Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. ( 9653161 )
1998
314
Photosensitivity associated with the Smith-Lemli-Opitz syndrome. ( 9666840 )
1998
315
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) ( 9024564 )
1997
316
Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. ( 9024563 )
1997
317
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. ( 9024568 )
1997
318
New treatment strategy for Smith-Lemli-Opitz syndrome. ( 9130950 )
1997
319
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
320
Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome. ( 9024556 )
1997
321
Phenotypic diversity in the Smith-Lemli-Opitz syndrome. ( 9018421 )
1997
322
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. ( 8990234 )
1997
323
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. ( 9024565 )
1997
324
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. ( 9024557 )
1997
325
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. ( 9024560 )
1997
326
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. ( 9266395 )
1997
327
MRI in Smith-Lemli-Opitz syndrome type 1. ( 9403196 )
1997
328
MRI in Smith-Lemli-Opitz syndrome type I. ( 9083702 )
1997
329
Cardiovascular malformations in Smith-Lemli-Opitz syndrome. ( 9024558 )
1997
330
Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. ( 9024567 )
1997
331
Smith-Lemli-Opitz syndrome: further delineation of the phenotype. ( 9220198 )
1997
332
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
333
Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. ( 9024555 )
1997
334
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. ( 9090293 )
1997
335
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. ( 9061771 )
1997
336
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. ( 9024561 )
1997
337
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
338
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. ( 8766772 )
1996
339
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. ( 8831138 )
1996
340
Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids. ( 8737829 )
1996
341
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
342
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. ( 8863875 )
1996
343
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8808751 )
1996
344
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
345
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. ( 8884563 )
1996
346
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? ( 8989473 )
1996
347
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
348
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. ( 10829981 )
1996
349
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. ( 8987154 )
1996
350
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). ( 8726234 )
1996
351
Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 8659752 )
1996
352
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
353
Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry. ( 7720244 )
1995
354
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. ( 7595082 )
1995
355
Anesthesia-induced rigidity, unrelated to succinylcholine, associated with Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 7864433 )
1995
356
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778591 )
1995
357
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
358
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8919321 )
1995
359
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. ( 7616117 )
1995
360
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. ( 8559757 )
1995
361
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. ( 8776024 )
1995
362
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
363
Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. ( 8656079 )
1995
364
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. ( 7778589 )
1995
365
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. ( 7603789 )
1995
366
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. ( 7778588 )
1995
367
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. ( 7706951 )
1995
368
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. ( 7778590 )
1995
369
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. ( 8533850 )
1995
370
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. ( 7608816 )
1995
371
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. ( 7762564 )
1995
372
Unusual case of Smith-Lemli-Opitz syndrome "type II". ( 7778586 )
1995
373
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. ( 7664465 )
1995
374
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778587 )
1995
375
Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. ( 7557099 )
1995
376
Abnormal bile acids in the Smith-Lemli-Opitz syndrome. ( 8209917 )
1994
377
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. ( 8209918 )
1994
378
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177282 )
1994
379
Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report. ( 7699276 )
1994
380
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. ( 8209919 )
1994
381
RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. ( 8209916 )
1994
382
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. ( 8116676 )
1994
383
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177281 )
1994
384
Picture of the month. Smith-Lemli-Opitz syndrome. ( 7921121 )
1994
385
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. ( 7632194 )
1994
386
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
387
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. ( 8259166 )
1994
388
Gonadal function in Smith-Lemli-Opitz syndrome. ( 8418647 )
1993
389
Cholesterol defect in Smith-Lemli-Opitz syndrome. ( 8256825 )
1993
390
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. ( 7684480 )
1993
391
Smith-Lemli-Opitz Syndrome ( 20301322 )
1993
392
Smith-Lemli-Opitz syndrome. ( 8244478 )
1993
393
Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings. ( 8469589 )
1993
394
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. ( 1392379 )
1992
395
Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. ( 1354158 )
1992
396
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. ( 1605242 )
1992
397
Smith-Lemli-Opitz syndrome in siblings. ( 1389317 )
1992
398
Smith-Lemli-Opitz syndrome: the changing phenotype with age. ( 1642814 )
1992
399
A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. ( 2038028 )
1991
400
Smith-Lemli-Opitz syndrome in female, monozygotic twins. ( 1773539 )
1991
401
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. ( 1849804 )
1991
402
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. ( 2309789 )
1990
403
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? ( 2395167 )
1990
404
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). ( 2596525 )
1989
405
Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome. ( 2542142 )
1989
406
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. ( 2729358 )
1989
407
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. ( 2831368 )
1988
408
Two cases of severe lethal Smith-Lemli-Opitz syndrome. ( 3812579 )
1987
409
The nosology of the Smith-Lemli-Opitz Syndrome. ( 3425637 )
1987
410
Nosology of Smith-Lemli-Opitz syndrome. ( 3322012 )
1987
411
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. ( 3611634 )
1987
412
Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. ( 3560332 )
1987
413
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? ( 3425639 )
1987
414
Female external genitalia and mA1llerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. ( 3322011 )
1987
415
Smith-Lemli-Opitz syndrome. ( 3425638 )
1987
416
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. ( 3612721 )
1987
417
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. ( 3812577 )
1987
418
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. ( 3712395 )
1986
419
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. ( 3018967 )
1985
420
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. ( 3934624 )
1985
421
Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 )
1985
422
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. ( 6713715 )
1984
423
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. ( 6437074 )
1984
424
Smith-Lemli-Opitz syndrome and Hirschsprung disease. ( 6737144 )
1984
425
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. ( 6886911 )
1983
426
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. ( 6858679 )
1983
427
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. ( 6859094 )
1983
428
Ocular manifestations of the Smith-Lemli-Opitz syndrome. ( 7295150 )
1981
429
Postlenticular membrane associated with Smith-Lemli-Opitz syndrome. ( 443339 )
1979
430
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. ( 862305 )
1977
431
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977
432
The Smith-Lemli-Opitz syndrome in a five months old child. ( 614986 )
1977
433
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. ( 844667 )
1977
434
Smith-Lemli-Opitz syndrome: review and report of two affected siblings. ( 166525 )
1975
435
The pathological anatomy of the Smith-Lemli-Opitz syndrome. ( 1149307 )
1975
436
Smith-Lemli-Opitz syndrome: two further cases. ( 1110157 )
1975
437
Three sisters with the Smith-Lemli-Opitz syndrome. ( 4213791 )
1974
438
Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings. ( 4147088 )
1973
439
Smith-Lemli-Opitz syndrome in an inbred family. ( 5056882 )
1972
440
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. ( 4664661 )
1972
441
Smith-Lemli-Opitz syndrome in an adult. ( 4153066 )
1972
442
The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy. ( 5098076 )
1971
443
The Smith-Lemli-Opitz syndrome. ( 5096180 )
1971
444
Smith-Lemli-Opitz syndrome with cardiovascular abnormality. ( 5573870 )
1971
445
Cataracts in the Smith-Lemli-Opitz syndrome. ( 4330375 )
1971
446
Smith-Lemli-Opitz syndrome. ( 5349196 )
1969
447
Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome. ( 5809847 )
1969
448
Smith-Lemli-Opitz syndrome in a negro child. ( 5762893 )
1969
449
The Smith-Lemli-Opitz syndrome in an adult male. ( 5363344 )
1969
450
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. ( 4389828 )
1969
451
Smith-Lemli-Opitz syndrome. Case report. ( 5303264 )
1968
452
Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome. ( 4386913 )
1968
453
Smith-Lemli-Opitz syndrome. ( 5708286 )
1968
454
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. ( 5642353 )
1968
455
Picture of the month. Smith-Lemli-Opitz syndrome. ( 5689489 )
1968
456
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)
id 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
8 DHCR7 p.Trp248Cys VAR_012724 rs28939698
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
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 55, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
2 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
3 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
4 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
5 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
6 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
7 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
8 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
9 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
10 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
11 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
12 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
13 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
14 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
15 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
16 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
17 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
18 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
19 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
20 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
21 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
22 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
23 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
24 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
25 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
26 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
27 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
28 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Pathogenic rs398123607 GRCh37 Chromosome 11, 71148980: 71148980
29 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
30 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
31 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
32 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
33 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
34 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
35 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
36 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
37 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
38 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
39 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
40 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
41 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh37 Chromosome 11, 71146783: 71146783
42 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh38 Chromosome 11, 71435808: 71435808
43 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh38 Chromosome 11, 71435812: 71435812
44 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh37 Chromosome 11, 71146868: 71146868
45 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh38 Chromosome 11, 71437810: 71437810
46 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh37 Chromosome 11, 71148857: 71148857
47 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh38 Chromosome 11, 71438877: 71438877
48 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh38 Chromosome 11, 71438906: 71438906
49 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130
50 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh38 Chromosome 11, 71441441: 71441441
51 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Likely pathogenic rs746482788 GRCh38 Chromosome 11, 71442258: 71442290
52 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh38 Chromosome 11, 71444871: 71444871
53 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh38 Chromosome 11, 71444937: 71444937
54 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh38 Chromosome 11, 71435475: 71435475
55 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Pathogenic rs200334114 GRCh37 Chromosome 11, 71155910: 71155910

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

7 (showing 1, show less)
id 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 GeneCards Suite gene sharing:

(showing 9, show less)
id 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
11.51 DHCR7 FDFT1 HMGCR HMGCS2
4
Show member pathways
11.48 DHCR7 FDFT1 HMGCR
5 11.3 FDFT1 HMGCR LDLR
6 11 APOE LDLR
7
Show member pathways
10.87 FDFT1 HMGCR
8
Show member pathways
10.85 ABCA1 APOE FDFT1 HMGCR LDLR
9 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)
id 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 26, show less)
id 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 9.69 ABCA1 APOE LDLR
4 steroid biosynthetic process GO:0006694 9.67 DHCR7 FDFT1 HMGCR HMGCS2
5 regulation of cholesterol biosynthetic process GO:0045540 9.65 DHCR7 FDFT1 HMGCR
6 phospholipid transport GO:0015914 9.63 ABCA1 LDLR
7 lipoprotein metabolic process GO:0042157 9.63 ABCA1 APOE LDLR
8 negative regulation of MAP kinase activity GO:0043407 9.62 APOE HMGCR
9 cholesterol transport GO:0030301 9.62 ABCA1 LDLR
10 cholesterol biosynthetic process GO:0006695 9.62 DHCR7 FDFT1 HMGCR HMGCS2
11 cholesterol efflux GO:0033344 9.61 ABCA1 APOE
12 myoblast differentiation GO:0045445 9.6 HMGCR SHH
13 reverse cholesterol transport GO:0043691 9.59 ABCA1 APOE
14 positive regulation of cholesterol efflux GO:0010875 9.58 ABCA1 APOE
15 high-density lipoprotein particle assembly GO:0034380 9.58 ABCA1 APOE
16 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
17 phospholipid efflux GO:0033700 9.57 ABCA1 APOE
18 positive regulation of skeletal muscle tissue development GO:0048643 9.56 HMGCR SHH
19 sterol biosynthetic process GO:0016126 9.56 DHCR7 FDFT1 HMGCR HMGCS2
20 chylomicron remnant clearance GO:0034382 9.55 APOE LDLR
21 regulation of Cdc42 protein signal transduction GO:0032489 9.54 ABCA1 APOE
22 lipoprotein biosynthetic process GO:0042158 9.52 ABCA1 APOE
23 cholesterol metabolic process GO:0008203 9.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
24 lipoprotein catabolic process GO:0042159 9.49 APOE LDLR
25 positive regulation of endocytosis GO:0045807 9.3 APOE
26 steroid metabolic process GO:0008202 9.23 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2

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

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

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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59 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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