MCID: SMT004
MIFTS: 67

Smith-Lemli-Opitz Syndrome malady

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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 51 11 70 23 47 24 25 53 69 12 49 38 13 67
Rsh Syndrome 23 47 24 25 53 69
Slos 23 47 24 25 53 69
Slo Syndrome 23 47 24 25 69
7-Dehydrocholesterol Reductase Deficiency 47 25 53 67
Rutledge Lethal Multiple Congenital Anomaly Syndrome 11 47 69
 
Smith Lemli Opitz Syndrome 47 24 26
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 47
Smith-Lemli-Opitz Syndrome, Type Ii 67
Lethal Acrodysgenital Syndrome 47
Smith-Opitz-Inborn Syndrome 11

Characteristics:

Orphanet epidemiological data:

53
smith-lemli-opitz syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
smith-lemli-opitz syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 270400
Disease Ontology11 DOID:14692
ICD1029 E78.72
MeSH38 D019082
NCIt44 C85071
SNOMED-CT61 43929004
Orphanet53 ORPHA818
MESH via Orphanet39 D019082
UMLS via Orphanet68 C0175694, C2713347
ICD10 via Orphanet30 Q87.1

Summaries for Smith-Lemli-Opitz Syndrome

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OMIM:51 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome.... (270400) more...

MalaCards based summary: Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to polyneuropathy and cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome, and has symptoms including microcephaly, micrognathia and anteverted nares. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and Folate Metabolism. Affiliated tissues include lung, kidney and heart, and related mouse phenotypes are renal/urinary system and liver/biliary system.

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).

NIH Rare Diseases:47 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:69 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.

Wikipedia:70 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn... more...

GeneReviews for NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1polyneuropathy30.2ABCA1, APOE
2cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome12.3
3greenberg skeletal dysplasia11.3
4hyperlipidemia type 311.3
5van buchem disease11.3
6retinitis10.6
7retinal degeneration10.5
8cataract10.4
9autism spectrum disorder10.3
10polydactyly10.3
11neuronitis10.3
12malignant hyperthermia10.3
13cerebrotendinous xanthomatosis10.2
14pallister-hall syndrome10.2
15lathosterolosis10.2
16hydrolethalus syndrome10.2
17rubinstein-taybi syndrome10.2
18pulmonary hypertension10.2
19hepatitis10.2
20holoprosencephaly10.2
21sclerocornea10.2
22heart disease10.2
23cholestasis10.2
24down syndrome10.2
25hypothyroidism10.2
26xanthomatosis10.2
27cerebritis10.2
28pseudohermaphroditism10.2
29conjunctivitis10.2
30achalasia10.2
31birth defects10.2
325-alpha reductase deficiency10.2
33dwarfism10.2
34precocious puberty10.2
35mixed germ cell tumor10.2
36renal dysplasia10.2
37elephantiasis10.1KCNMA1, SHH
38retinal arteries, tortuosity of10.1APOE, HMGCR
39sitosterolemia10.1FDFT1, HMGCR
40islet cell tumor9.9ABCA1, APOE
41hypercholesterolemia, due to ligand-defective apo b9.7APOE, LDLR
42alzheimer disease 19, late onset9.7APOE, LDLR
43bladder diverticulum9.6APOE, LDLR
44inflamed seborrheic keratosis9.6APOE, LDLR
45hypobetalipoproteinemia9.6APOE, LDLR
46cataract 5, multiple types9.5ABCA1, LDLR
47degos 'en cocarde' erythrokeratoderma9.5APOE, HMGCR, LDLR
48rubinstein taybi like syndrome9.5APOE, HMGCR, LDLR
49macular degeneration, age-related, 19.4ABCA1, APOE, KCNMA1
50arthritis9.3ABCA1, APOE, LDLR

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



Diseases related to smith-lemli-opitz syndrome

Symptoms for Smith-Lemli-Opitz Syndrome

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Symptoms by clinical synopsis from OMIM:

270400

Clinical features from OMIM:

270400

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

 63 53 (show all 170)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
3 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
4 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
5 toe syndactyly63 hallmark (90%) HP:0001770
6 abnormality of lipid metabolism63 hallmark (90%) HP:0003119
7 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of dental morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0006482
9 abnormal dermatoglyphics63 53 hallmark (90%) Very frequent (99-80%) HP:0007477
10 increased nuchal translucency63 53 hallmark (90%) Very frequent (99-80%) HP:0010880
11 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
12 abnormality of female external genitalia63 typical (50%) HP:0000055
13 ambiguous genitalia63 53 typical (50%) Frequent (79-30%) HP:0000062
14 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
15 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
16 gingival overgrowth63 53 typical (50%) Frequent (79-30%) HP:0000212
17 narrow forehead63 typical (50%) HP:0000341
18 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
19 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
20 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
21 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
22 autism63 53 typical (50%) Frequent (79-30%) HP:0000717
23 cutis marmorata63 53 typical (50%) Frequent (79-30%) HP:0000965
24 cutaneous photosensitivity63 53 typical (50%) Frequent (79-30%) HP:0000992
25 postaxial hand polydactyly63 53 typical (50%) Frequent (79-30%) HP:0001162
26 abnormality of the metacarpal bones63 53 typical (50%) Frequent (79-30%) HP:0001163
27 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
28 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
29 abnormality of the larynx63 53 typical (50%) Frequent (79-30%) HP:0001600
30 ventricular septal defect63 53 typical (50%) Frequent (79-30%) HP:0001629
31 atria septal defect63 typical (50%) HP:0001631
32 complete atrioventricular canal defect63 typical (50%) HP:0001674
33 postaxial foot polydactyly63 53 typical (50%) Frequent (79-30%) HP:0001830
34 abnormal lung lobation63 53 typical (50%) Frequent (79-30%) HP:0002101
35 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
36 sleep disturbance63 53 typical (50%) Frequent (79-30%) HP:0002360
37 tracheal stenosis63 53 typical (50%) Frequent (79-30%) HP:0002777
38 abnormality of the hip bone63 typical (50%) HP:0003272
39 reduced consciousness/confusion63 typical (50%) HP:0004372
40 abnormality of the nipple63 typical (50%) HP:0004404
41 aplasia/hypoplasia of the lungs63 typical (50%) HP:0006703
42 attention deficit hyperactivity disorder63 53 typical (50%) Frequent (79-30%) HP:0007018
43 aplasia/hypoplasia of the cerebellum63 53 typical (50%) Frequent (79-30%) HP:0007360
44 hypoplasia of penis63 53 typical (50%) Frequent (79-30%) HP:0008736
45 proximal placement of thumb63 53 typical (50%) Frequent (79-30%) HP:0009623
46 abnormality of immune system physiology63 typical (50%) HP:0010978
47 displacement of the external urethral meatus63 typical (50%) HP:0100627
48 self-injurious behavior63 53 typical (50%) Frequent (79-30%) HP:0100716
49 multicystic kidney dysplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000003
50 abnormality of the ureter63 occasional (7.5%) HP:0000069
51 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
52 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
53 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
54 choanal atresia63 53 occasional (7.5%) Occasional (29-5%) HP:0000453
55 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
56 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
57 abnormality of the eyelashes63 53 occasional (7.5%) Occasional (29-5%) HP:0000499
58 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
59 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
60 proptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000520
61 upslanted palpebral fissure63 53 occasional (7.5%) Occasional (29-5%) HP:0000582
62 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
63 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
64 sclerocornea63 53 occasional (7.5%) Occasional (29-5%) HP:0000647
65 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
66 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
67 abnormality of the ribs63 53 occasional (7.5%) Occasional (29-5%) HP:0000772
68 congenital diaphragmatic hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0000776
69 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
70 split hand63 53 occasional (7.5%) Occasional (29-5%) HP:0001171
71 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
72 hypertonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001276
73 holoprosencephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001360
74 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
75 abnormality of the spleen63 occasional (7.5%) HP:0001743
76 talipes63 occasional (7.5%) HP:0001883
77 pyloric stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002021
78 aganglionic megacolon63 53 occasional (7.5%) Occasional (29-5%) HP:0002251
79 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
80 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
81 micromelia63 occasional (7.5%) HP:0002983
82 abnormal form of the vertebral bodies63 53 occasional (7.5%) Occasional (29-5%) HP:0003312
83 abnormality of the gallbladder63 53 occasional (7.5%) Occasional (29-5%) HP:0005264
84 hypopigmentation of hair63 53 occasional (7.5%) Occasional (29-5%) HP:0005599
85 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
86 advanced eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0006288
87 aplasia/hypoplasia of the radius63 53 occasional (7.5%) Occasional (29-5%) HP:0006501
88 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
89 aplasia/hypoplasia affecting the eye63 53 occasional (7.5%) Occasional (29-5%) HP:0008056
90 renal hypoplasia/aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0008678
91 ulnar deviation of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0009465
92 reduced number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0009804
93 aplasia/hypoplasia of the tongue63 occasional (7.5%) HP:0010295
94 bifid tongue63 53 occasional (7.5%) Occasional (29-5%) HP:0010297
95 increased number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0011069
96 abnormal localization of kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0100542
97 scrotal hypoplasia63 HP:0000046
98 hypospadias63 53 Frequent (79-30%) HP:0000047
99 bifid scrotum63 HP:0000048
100 micropenis63 HP:0000054
101 ureteropelvic junction obstruction63 53 Occasional (29-5%) HP:0000074
102 renal hypoplasia63 HP:0000089
103 renal agenesis63 HP:0000104
104 renal cyst63 HP:0000107
105 hydronephrosis63 53 Occasional (29-5%) HP:0000126
106 microglossia63 53 Occasional (29-5%) HP:0000171
107 broad alveolar ridges63 HP:0000187
108 hydrocephalus63 HP:0000238
109 posteriorly rotated ears63 HP:0000358
110 hearing impairment63 HP:0000365
111 low-set ears63 HP:0000369
112 recurrent otitis media63 HP:0000403
113 wide nasal bridge63 53 Very frequent (99-80%) HP:0000431
114 dental crowding63 HP:0000678
115 aggressive behavior63 HP:0000718
116 self-mutilation63 HP:0000742
117 hyperactivity63 HP:0000752
118 bicornuate uterus63 HP:0000813
119 precocious puberty63 HP:0000826
120 eczema63 HP:0000964
121 facial capillary hemangioma63 53 Frequent (79-30%) HP:0000996
122 septate vagina63 HP:0001153
123 intellectual disability63 53 Very frequent (99-80%) HP:0001249
124 generalized hypotonia63 HP:0001290
125 dandy-walker malformation63 HP:0001305
126 failure to thrive63 HP:0001508
127 decreased fetal movement63 HP:0001558
128 premature birth63 HP:0001622
129 breech presentation63 HP:0001623
130 coarctation of aorta63 HP:0001680
131 hammertoe63 HP:0001765
132 short toe63 HP:0001831
133 metatarsus adductus63 HP:0001840
134 overlapping toe63 HP:0001845
135 talipes calcaneovalgus63 53 Occasional (29-5%) HP:0001884
136 vomiting63 HP:0002013
137 constipation63 HP:0002019
138 gastroesophageal reflux63 53 Very frequent (99-80%) HP:0002020
139 poor suck63 HP:0002033
140 hypoplasia of the corpus callosum63 HP:0002079
141 pulmonary hypoplasia63 53 Frequent (79-30%) HP:0002089
142 intestinal malrotation63 HP:0002566
143 gastrointestinal dysmotility63 HP:0002579
144 cholestatic liver disease63 HP:0002611
145 hip dislocation63 53 Frequent (79-30%) HP:0002827
146 hypocholesterolemia63 HP:0003146
147 2-3 toe syndactyly63 53 Very frequent (99-80%) HP:0004691
148 depressed nasal bridge63 HP:0005280
149 sleep-wake cycle disturbance63 HP:0006979
150 periventricular gray matter heterotopia63 HP:0007165
151 hypoplasia of the frontal lobes63 HP:0007333
152 severe photosensitivity63 HP:0007537
153 short thumb63 HP:0009778
154 elevated 7-dehydrocholesterol63 53 Very frequent (99-80%) HP:0010569
155 epiphyseal stippling63 HP:0010655
156 hip subluxation63 HP:0030043
157 clitoromegaly53 Frequent (79-30%)
158 somnolence53 Frequent (79-30%)
159 global developmental delay53 Very frequent (99-80%)
160 growth delay53 Very frequent (99-80%)
161 gastroschisis53 Occasional (29-5%)
162 defect in the atrial septum53 Frequent (79-30%)
163 malformation of the heart and great vessels53 Frequent (79-30%)
164 recurrent infections53 Frequent (79-30%)
165 mesomelia53 Occasional (29-5%)
166 biparietal narrowing53 Frequent (79-30%)
167 wide intermamillary distance53 Frequent (79-30%)
168 atrioventricular canal defect53 Frequent (79-30%)
169 feeding difficulties in infancy53 Very frequent (99-80%)
170 rhizomelia53 Occasional (29-5%)

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


constipation, seizures, vomiting

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 251079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
2
BenzocaineapprovedPhase 1, Phase 218921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
3tannic acidapproved, NutraceuticalPhase 1, Phase 21892
4Hypolipidemic AgentsPhase 22721
5Lipid Regulating AgentsPhase 22702
6Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
7Anticholesteremic AgentsPhase 21983
8AntimetabolitesPhase 211774
9PhytosterolNutraceuticalPhase 1, Phase 2115
10Protective Agents7190
11Antioxidants2928
12Anesthetics9001

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz SyndromeUnknown statusNCT00004347Phase 2
2Treatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeCompletedNCT00272844Phase 1, Phase 2
3Simvastatin Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00064792Phase 2
4Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00114634Phase 2
5Prenatal Screening For Smith-Lemli-Opitz SyndromeCompletedNCT00070850Phase 2
6Cholesterol in ASD: Characterization and TreatmentCompletedNCT00965068Phase 1, Phase 2
7Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2
8Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz SyndromeUnknown statusNCT01356420
9SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol SupplementationUnknown statusNCT01434745
10Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African AmericansCompletedNCT00017732
11Study of Smith-Lemli-Opitz SyndromeRecruitingNCT00001721
12Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
13Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202
14A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz SyndromeWithdrawnNCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome


Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

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Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome26 24 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

35
Lung, Kidney, Heart, Bone, Eye, Tongue, Skin

Animal Models for Smith-Lemli-Opitz Syndrome or affiliated genes

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

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1ABCA1, APOE, DHCR7, KCNMA1, SHH
2MP:00053708.7ABCA1, APOE, DHCR7, HMGCR, LDLR
3MP:00053818.4ABCA1, APOE, DHCR7, KCNMA1, LDLR, SHH
4MP:00053868.0APOE, CYP11A1, DHCR7, FDFT1, KCNMA1, LDLR
5MP:00053697.8ABCA1, APOE, CYP11A1, DHCR7, KCNMA1, LDLR
6MP:00053897.8ABCA1, APOE, CYP11A1, FDFT1, KCNMA1, SHH
7MP:00036317.4ABCA1, APOE, CYP11A1, DHCR7, FDFT1, KCNMA1
8MP:00053787.1ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR
9MP:00107687.1ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR

Publications for Smith-Lemli-Opitz Syndrome

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Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 448)
idTitleAuthorsYear
1
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
2
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
3
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. (25024934)
2014
4
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
5
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
6
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (23321614)
2013
7
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? (24533230)
2013
8
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. (23979708)
2013
9
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. (23022980)
2013
10
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. (23042642)
2012
11
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. (23293579)
2012
12
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. (21817059)
2011
13
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. (20804844)
2010
14
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. (20702862)
2010
15
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
16
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. (20067919)
2010
17
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. (18556335)
2008
18
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. (18076100)
2008
19
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. (18344409)
2008
20
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. (16490099)
2006
21
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (16392899)
2005
22
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. (16435228)
2005
23
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (14981719)
2004
24
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. (15480380)
2004
25
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. (12475721)
2003
26
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
27
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (11298379)
2001
28
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. (11483057)
2001
29
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. (11505445)
2001
30
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. (11503169)
2001
31
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. (11161831)
2001
32
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. (10899806)
2000
33
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. (10995508)
2000
34
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. (10069708)
1999
35
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. (10443904)
1999
36
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. (9714007)
1998
37
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (9683613)
1998
38
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. (9061771)
1997
39
New treatment strategy for Smith-Lemli-Opitz syndrome. (9130950)
1997
40
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
41
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. (10829981)
1996
42
Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. (8766772)
1996
43
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. (8808751)
1996
44
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. (7778591)
1995
45
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. (7778590)
1995
46
Smith-Lemli-Opitz syndrome. (8244478)
1993
47
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. (3611634)
1987
48
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. (862305)
1977
49
The pathological anatomy of the Smith-Lemli-Opitz syndrome. (1149307)
1975
50
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. (5642353)
1968

Variations for Smith-Lemli-Opitz Syndrome

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

69 (show all 53)
id Symbol AA change Variation ID SNP ID
1DHCR7p.Pro51SerVAR_012717rs104886035
2DHCR7p.Thr93MetVAR_012718rs80338853
3DHCR7p.Leu99ProVAR_012719rs104886041
4DHCR7p.His119LeuVAR_012720rs28938174
5DHCR7p.Leu157ProVAR_012721rs753960624
6DHCR7p.Gly244ArgVAR_012722rs121909764
7DHCR7p.Ala247ValVAR_012723
8DHCR7p.Trp248CysVAR_012724rs28939698
9DHCR7p.Thr289IleVAR_012725rs121909765
10DHCR7p.Val326LeuVAR_012726rs80338859
11DHCR7p.Arg352TrpVAR_012727rs80338860
12DHCR7p.Cys380SerVAR_012728
13DHCR7p.Arg404CysVAR_012729rs61757582
14DHCR7p.Gly410SerVAR_012730rs80338862
15DHCR7p.Glu448LysVAR_016975rs80338864
16DHCR7p.Leu68ProVAR_023148rs104886038
17DHCR7p.Gln107HisVAR_023149rs104886040
18DHCR7p.Leu109ProVAR_023150rs121912195
19DHCR7p.Ser113CysVAR_023151
20DHCR7p.Gly138ValVAR_023152
21DHCR7p.Ile145LeuVAR_023153
22DHCR7p.Gly147AspVAR_023154rs777425801
23DHCR7p.Thr154MetVAR_023155rs143312232
24DHCR7p.Ser169LeuVAR_023156rs80338855
25DHCR7p.Trp182CysVAR_023157
26DHCR7p.Trp182LeuVAR_023158
27DHCR7p.Cys183TyrVAR_023159
28DHCR7p.Lys198GluVAR_023160
29DHCR7p.Phe235SerVAR_023161
30DHCR7p.Arg242CysVAR_023162rs80338856
31DHCR7p.Arg242HisVAR_023163rs80338857
32DHCR7p.Phe255LeuVAR_023164
33DHCR7p.Val281MetVAR_023165rs398123607
34DHCR7p.Ile297ThrVAR_023166
35DHCR7p.Cys311GlyVAR_023167
36DHCR7p.Cys311TyrVAR_023168
37DHCR7p.Tyr324HisVAR_023169
38DHCR7p.Gly344ArgVAR_023170
39DHCR7p.Arg352GlnVAR_023171rs121909768
40DHCR7p.Val353AlaVAR_023172
41DHCR7p.Arg362CysVAR_023173rs371302153
42DHCR7p.Cys380ArgVAR_023174rs373306653
43DHCR7p.Cys380TyrVAR_023175rs779709646
44DHCR7p.Ser397LeuVAR_023176rs773134475
45DHCR7p.Arg404SerVAR_023177
46DHCR7p.His405TyrVAR_023178
47DHCR7p.Tyr408HisVAR_023179
48DHCR7p.Gly410ArgVAR_023180
49DHCR7p.His426ProVAR_023181
50DHCR7p.Arg443CysVAR_023182rs535561852
51DHCR7p.Arg446GlnVAR_023183rs751604696
52DHCR7p.Glu448GlnVAR_023184
53DHCR7p.Arg450LeuVAR_023185rs542266962

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

5 (show all 56)
id Gene Variation Type Significance SNP ID Assembly Location
1DHCR7NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg)SNVLikely pathogenicrs143312232GRCh37Chr 11, 71152438: 71152438
2DHCR7NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter)SNVLikely pathogenicrs104886039GRCh38Chr 11, 71444022: 71444022
3DHCR7NM_001360.2(DHCR7): c.461C> T (p.Thr154Met)SNVLikely pathogenicrs143312232GRCh38Chr 11, 71441392: 71441392
4DHCR7NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln)SNVLikely pathogenicrs775034584GRCh38Chr 11, 71435377: 71435377
5DHCR7NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr)SNVLikely pathogenicrs779709646GRCh38Chr 11, 71435664: 71435664
6DHCR7NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter)SNVLikely pathogenicrs750345068GRCh38Chr 11, 71444203: 71444203
7DHCR7NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg)SNVLikely pathogenic, Pathogenicrs142808899GRCh37Chr 11, 71148914: 71148914
8DHCR7NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser)SNVPathogenicrs80338862GRCh37Chr 11, 71146621: 71146621
9DHCR7NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter)SNVPathogenicrs11555217GRCh37Chr 11, 71152447: 71152447
10DHCR7NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu)SNVPathogenicrs80338855GRCh37Chr 11, 71152393: 71152393
11DHCR7NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys)SNVPathogenicrs80338856GRCh37Chr 11, 71150032: 71150032
12DHCR7NM_001360.2(DHCR7): c.725G> A (p.Arg242His)SNVPathogenicrs80338857GRCh37Chr 11, 71150031: 71150031
13DHCR7NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu)SNVPathogenicrs80338858GRCh37Chr 11, 71148915: 71148915
14DHCR7NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs)deletionLikely pathogenicrs886042362GRCh37Chr 11, 71146501: 71146501
15DHCR7NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg)SNVLikely pathogenicrs373306653GRCh37Chr 11, 71146711: 71146711
16DHCR7NM_001360.2(DHCR7): c.322_412delSNVPathogenicrs786200926GRCh38Chr 11, 71442260: 71442260
17DHCR7NM_001360.2(DHCR7): c.964-1G> TSNVLikely pathogenicrs138659167GRCh38Chr 11, 71435840: 71435840
18DHCR7NM_001360.2: c.981C> ASNVLikely pathogenicChr na, -1: -1
19DHCR7NM_001360.2: c.1199G> ASNVLikely pathogenicChr na, -1: -1
20DHCR7NM_001360.2: c.385_412+5del33deletionLikely pathogenicChr na, -1: -1
21DHCR7NM_001360.2: c.1080_1081delGTdeletionLikely pathogenicChr na, -1: -1
22DHCR7NM_001360.2: c.82C> TSNVLikely pathogenicChr na, -1: -1
23DHCR7NM_001360.2: c.991C> TSNVLikely pathogenicChr na, -1: -1
24DHCR7NM_001360.2: c.995delTdeletionLikely pathogenicChr na, -1: -1
25DHCR7NM_001360.2: c.1066delCdeletionLikely pathogenicChr na, -1: -1
26DHCR7NM_001360.2: c.804delTdeletionLikely pathogenicChr na, -1: -1
27DHCR7NM_001360.2: c.831+2T> ASNVLikely pathogenicChr na, -1: -1
28DHCR7NM_001360.2: c.963+1G> TSNVLikely pathogenicChr na, -1: -1
29DHCR7NM_001360.2: c.16C> TSNVLikely pathogenicChr na, -1: -1
30DHCR7NM_001360.2: c.963+2T> GSNVLikely pathogenicChr na, -1: -1
31DHCR7NM_001360.2: c.627-1G> ASNVLikely pathogenicChr na, -1: -1
32DHCR7NM_001360.2: c.413-1G> ASNVLikely pathogenicChr na, -1: -1
33DHCR7NM_001360.2(DHCR7): c.832-1G> CSNVPathogenicrs80338863GRCh37Chr 11, 71148990: 71148990
34DHCR7DHCR7, 96-BP DELdeletionPathogenicChr na, -1: -1
35DHCR7DHCR7, 1-BP INS, 505CinsertionPathogenicChr na, -1: -1
36DHCR7DHCR7, 1-BP INS, 586TinsertionPathogenicChr na, -1: -1
37DHCR7NM_001360.2(DHCR7): c.356A> T (p.His119Leu)SNVPathogenicrs28938174GRCh37Chr 11, 71153365: 71153365
38DHCR7NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg)SNVPathogenicrs121909764GRCh37Chr 11, 71150026: 71150026
39DHCR7NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys)SNVPathogenicrs104894212GRCh37Chr 11, 71150012: 71150012
40DHCR7NM_001360.2(DHCR7): c.278C> T (p.Thr93Met)SNVPathogenicrs80338853GRCh37Chr 11, 71155082: 71155082
41DHCR7NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter)SNVPathogenicrs104894213GRCh37Chr 11, 71152446: 71152446
42DHCR7NM_001360.2(DHCR7): c.976G> T (p.Val326Leu)SNVPathogenicrs80338859GRCh37Chr 11, 71146873: 71146873
43DHCR7DHCR7, TRP37TERSNVPathogenicChr na, -1: -1
44DHCR7NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp)SNVPathogenicrs80338860GRCh37Chr 11, 71146795: 71146795
45DHCR7NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys)SNVPathogenicrs61757582GRCh37Chr 11, 71146639: 71146639
46DHCR7NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile)SNVLikely pathogenic, Pathogenicrs121909765GRCh37Chr 11, 71148955: 71148955
47DHCR7NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys)SNVPathogenicrs121909766GRCh37Chr 11, 71148982: 71148982
48DHCR7NM_001360.2(DHCR7): c.3G> A (p.Met1Ile)SNVLikely pathogenic, Pathogenicrs121909767GRCh37Chr 11, 71155996: 71155996
49DHCR7NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys)SNVPathogenicrs80338864GRCh37Chr 11, 71146507: 71146507
50DHCR7DHCR7, PHE284LEUundetermined variantPathogenicChr na, -1: -1
51DHCR7NM_001360.2(DHCR7): c.1A> G (p.Met1Val)SNVLikely pathogenic, Pathogenicrs104886033GRCh37Chr 11, 71155998: 71155998
52DHCR7NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln)SNVPathogenicrs121909768GRCh37Chr 11, 71146794: 71146794
53DHCR7NM_001360.2(DHCR7): c.1384T> C (p.Tyr462His)SNVLikely pathogenicrs201270451GRCh37Chr 11, 71146465: 71146465
54DHCR7NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser)SNVPathogenicrs104886035GRCh37Chr 11, 71155209: 71155209
55DHCR7NM_001360.2(DHCR7): c.841G> A (p.Val281Met)SNVPathogenicrs398123607GRCh37Chr 11, 71148980: 71148980
56DHCR7NM_001360.2(DHCR7): c.964-1G> CSNVLikely pathogenic, Pathogenicrs138659167GRCh37Chr 11, 71146886: 71146886

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
134824115640000076700000Copy numberDHCR7Smith-Lemli-Opitz syndrome

Expression for genes affiliated with Smith-Lemli-Opitz Syndrome

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

Pathways for genes affiliated with Smith-Lemli-Opitz Syndrome

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8FDFT1, HMGCR
2
Show member pathways
9.3ABCA1, APOE
39.1CYP11A1, LDLR
4
Show member pathways
9.0DHCR7, FDFT1, HMGCR, HMGCS2
59.0APOE, LDLR
6
Show member pathways
8.8ABCA1, FDFT1, HMGCR, HMGCS2
78.8ABCA1, HMGCR, LDLR
8
Show member pathways
8.7CYP11A1, KCNMA1, LDLR
9
Show member pathways
8.7DHCR7, FDFT1, HMGCR, LDLR
10
Show member pathways
8.5ABCA1, APOE, LDLR
11
Show member pathways
7.8ABCA1, APOE, FDFT1, HMGCR, LDLR
12
Show member pathways
6.2ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR

GO Terms for genes affiliated with Smith-Lemli-Opitz Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:003436410.0ABCA1, APOE
2low-density lipoprotein particleGO:00343629.7APOE, LDLR
3intracellular membrane-bounded organelleGO:00432318.5ABCA1, DHCR7, FDFT1, HMGCR, STS
4endoplasmic reticulumGO:00057838.5APOE, DHCR7, FDFT1, HMGCR, STS
5endoplasmic reticulum membraneGO:00057898.3ABCA1, DHCR7, FDFT1, HMGCR, STS

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1myoblast differentiationGO:004544510.4HMGCR, SHH
2positive regulation of skeletal muscle tissue developmentGO:004864310.3HMGCR, SHH
3skin developmentGO:004358810.2SHH, STS
4phospholipid effluxGO:003370010.0ABCA1, APOE
5high-density lipoprotein particle assemblyGO:003438010.0ABCA1, APOE
6lipoprotein biosynthetic processGO:004215810.0ABCA1, APOE
7negative regulation of MAP kinase activityGO:004340710.0APOE, HMGCR
8regulation of Cdc42 protein signal transductionGO:003248910.0ABCA1, APOE
9cholesterol effluxGO:003334410.0ABCA1, APOE
10positive regulation of cholesterol effluxGO:001087510.0ABCA1, APOE
11reverse cholesterol transportGO:00436919.9ABCA1, APOE
12isoprenoid biosynthetic processGO:00082999.9FDFT1, HMGCR, HMGCS2
13cellular response to fatty acidGO:00713989.8HMGCS2, LDLR
14lung developmentGO:00303249.7DHCR7, HMGCS2, SHH
15phospholipid transportGO:00159149.7ABCA1, LDLR
16cholesterol transportGO:00303019.7ABCA1, LDLR
17lipoprotein catabolic processGO:00421599.6APOE, LDLR
18response to nutrientGO:00075849.6ABCA1, HMGCR, HMGCS2
19cholesterol biosynthetic processGO:00066959.4DHCR7, FDFT1, HMGCR, HMGCS2
20lipoprotein metabolic processGO:00421579.1ABCA1, APOE, LDLR
21oxidation-reduction processGO:00551149.0CYP11A1, DHCR7, FDFT1, HMGCR
22cholesterol homeostasisGO:00426328.9ABCA1, APOE, LDLR
23cholesterol metabolic processGO:00082038.3ABCA1, APOE, CYP11A1, LDLR

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.3ABCA1, APOE
2cholesterol transporter activityGO:00171279.0ABCA1, APOE

Sources for Smith-Lemli-Opitz Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet