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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 52 11 71 23 48 24 25 54 70 12 50 39 13 68
Rsh Syndrome 23 48 24 25 54 70
Slos 23 48 24 25 54 70
Slo Syndrome 23 48 24 25 70
7-Dehydrocholesterol Reductase Deficiency 48 25 54 68
Rutledge Lethal Multiple Congenital Anomaly Syndrome 11 48 70
 
Smith Lemli Opitz Syndrome 48 24 27
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 48
Smith-Lemli-Opitz Syndrome, Type Ii 68
Lethal Acrodysgenital Syndrome 48
Smith-Opitz-Inborn Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
smith-lemli-opitz syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
smith-lemli-opitz syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 270400
Disease Ontology11 DOID:14692
ICD1030 E78.72
MeSH39 D019082
NCIt45 C85071
SNOMED-CT62 43929004
Orphanet54 ORPHA818
MESH via Orphanet40 D019082
UMLS via Orphanet69 C0175694, C2713347
ICD10 via Orphanet31 Q87.1

Summaries for Smith-Lemli-Opitz Syndrome

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OMIM:52 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 Increased LDL uptake and Decreased free cholesterol.

UniProtKB/Swiss-Prot:70 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).

NIH Rare Diseases:48 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

Wikipedia:71 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

About this section

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 & Phenotypes 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:

 64 54 (show all 170)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
3 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
4 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
5 toe syndactyly64 hallmark (90%) HP:0001770
6 abnormality of lipid metabolism64 hallmark (90%) HP:0003119
7 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of dental morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0006482
9 abnormal dermatoglyphics64 54 hallmark (90%) Very frequent (99-80%) HP:0007477
10 increased nuchal translucency64 54 hallmark (90%) Very frequent (99-80%) HP:0010880
11 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
12 abnormality of female external genitalia64 typical (50%) HP:0000055
13 ambiguous genitalia64 54 typical (50%) Frequent (79-30%) HP:0000062
14 wide mouth64 54 typical (50%) Frequent (79-30%) HP:0000154
15 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
16 gingival overgrowth64 54 typical (50%) Frequent (79-30%) HP:0000212
17 narrow forehead64 typical (50%) HP:0000341
18 long philtrum64 54 typical (50%) Frequent (79-30%) HP:0000343
19 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
20 short neck64 54 typical (50%) Frequent (79-30%) HP:0000470
21 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
22 autism64 54 typical (50%) Frequent (79-30%) HP:0000717
23 cutis marmorata64 54 typical (50%) Frequent (79-30%) HP:0000965
24 cutaneous photosensitivity64 54 typical (50%) Frequent (79-30%) HP:0000992
25 postaxial hand polydactyly64 54 typical (50%) Frequent (79-30%) HP:0001162
26 abnormality of the metacarpal bones64 54 typical (50%) Frequent (79-30%) HP:0001163
27 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
28 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
29 abnormality of the larynx64 54 typical (50%) Frequent (79-30%) HP:0001600
30 ventricular septal defect64 54 typical (50%) Frequent (79-30%) HP:0001629
31 atria septal defect64 typical (50%) HP:0001631
32 complete atrioventricular canal defect64 typical (50%) HP:0001674
33 postaxial foot polydactyly64 54 typical (50%) Frequent (79-30%) HP:0001830
34 abnormal lung lobation64 54 typical (50%) Frequent (79-30%) HP:0002101
35 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
36 sleep disturbance64 54 typical (50%) Frequent (79-30%) HP:0002360
37 tracheal stenosis64 54 typical (50%) Frequent (79-30%) HP:0002777
38 abnormality of the hip bone64 typical (50%) HP:0003272
39 reduced consciousness/confusion64 typical (50%) HP:0004372
40 abnormality of the nipple64 typical (50%) HP:0004404
41 aplasia/hypoplasia of the lungs64 typical (50%) HP:0006703
42 attention deficit hyperactivity disorder64 54 typical (50%) Frequent (79-30%) HP:0007018
43 aplasia/hypoplasia of the cerebellum64 54 typical (50%) Frequent (79-30%) HP:0007360
44 hypoplasia of penis64 54 typical (50%) Frequent (79-30%) HP:0008736
45 proximal placement of thumb64 54 typical (50%) Frequent (79-30%) HP:0009623
46 abnormality of immune system physiology64 typical (50%) HP:0010978
47 displacement of the external urethral meatus64 typical (50%) HP:0100627
48 self-injurious behavior64 54 typical (50%) Frequent (79-30%) HP:0100716
49 multicystic kidney dysplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000003
50 abnormality of the ureter64 occasional (7.5%) HP:0000069
51 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
52 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
53 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
54 choanal atresia64 54 occasional (7.5%) Occasional (29-5%) HP:0000453
55 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
56 downslanted palpebral fissures64 54 occasional (7.5%) Occasional (29-5%) HP:0000494
57 abnormality of the eyelashes64 54 occasional (7.5%) Occasional (29-5%) HP:0000499
58 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
59 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
60 proptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000520
61 upslanted palpebral fissure64 54 occasional (7.5%) Occasional (29-5%) HP:0000582
62 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
63 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
64 sclerocornea64 54 occasional (7.5%) Occasional (29-5%) HP:0000647
65 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
66 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
67 abnormality of the ribs64 54 occasional (7.5%) Occasional (29-5%) HP:0000772
68 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
69 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
70 split hand64 54 occasional (7.5%) Occasional (29-5%) HP:0001171
71 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
72 hypertonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001276
73 holoprosencephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0001360
74 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
75 abnormality of the spleen64 occasional (7.5%) HP:0001743
76 talipes64 occasional (7.5%) HP:0001883
77 pyloric stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002021
78 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
79 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
80 kyphosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002808
81 micromelia64 occasional (7.5%) HP:0002983
82 abnormal form of the vertebral bodies64 54 occasional (7.5%) Occasional (29-5%) HP:0003312
83 abnormality of the gallbladder64 54 occasional (7.5%) Occasional (29-5%) HP:0005264
84 hypopigmentation of hair64 54 occasional (7.5%) Occasional (29-5%) HP:0005599
85 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
86 advanced eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0006288
87 aplasia/hypoplasia of the radius64 54 occasional (7.5%) Occasional (29-5%) HP:0006501
88 aplasia/hypoplasia of the corpus callosum64 54 occasional (7.5%) Occasional (29-5%) HP:0007370
89 aplasia/hypoplasia affecting the eye64 54 occasional (7.5%) Occasional (29-5%) HP:0008056
90 renal hypoplasia/aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0008678
91 ulnar deviation of finger64 54 occasional (7.5%) Occasional (29-5%) HP:0009465
92 reduced number of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0009804
93 aplasia/hypoplasia of the tongue64 occasional (7.5%) HP:0010295
94 bifid tongue64 54 occasional (7.5%) Occasional (29-5%) HP:0010297
95 increased number of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0011069
96 abnormal localization of kidney64 54 occasional (7.5%) Occasional (29-5%) HP:0100542
97 scrotal hypoplasia64 HP:0000046
98 hypospadias64 54 Frequent (79-30%) HP:0000047
99 bifid scrotum64 HP:0000048
100 micropenis64 HP:0000054
101 ureteropelvic junction obstruction64 54 Occasional (29-5%) HP:0000074
102 renal hypoplasia64 HP:0000089
103 renal agenesis64 HP:0000104
104 renal cyst64 HP:0000107
105 hydronephrosis64 54 Occasional (29-5%) HP:0000126
106 microglossia64 54 Occasional (29-5%) HP:0000171
107 broad alveolar ridges64 HP:0000187
108 hydrocephalus64 HP:0000238
109 posteriorly rotated ears64 HP:0000358
110 hearing impairment64 HP:0000365
111 low-set ears64 HP:0000369
112 recurrent otitis media64 HP:0000403
113 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
114 dental crowding64 HP:0000678
115 aggressive behavior64 HP:0000718
116 self-mutilation64 HP:0000742
117 hyperactivity64 HP:0000752
118 bicornuate uterus64 HP:0000813
119 precocious puberty64 HP:0000826
120 eczema64 HP:0000964
121 facial capillary hemangioma64 54 Frequent (79-30%) HP:0000996
122 septate vagina64 HP:0001153
123 intellectual disability64 54 Very frequent (99-80%) HP:0001249
124 generalized hypotonia64 HP:0001290
125 dandy-walker malformation64 HP:0001305
126 failure to thrive64 HP:0001508
127 decreased fetal movement64 HP:0001558
128 premature birth64 HP:0001622
129 breech presentation64 HP:0001623
130 coarctation of aorta64 HP:0001680
131 hammertoe64 HP:0001765
132 short toe64 HP:0001831
133 metatarsus adductus64 HP:0001840
134 overlapping toe64 HP:0001845
135 talipes calcaneovalgus64 54 Occasional (29-5%) HP:0001884
136 vomiting64 HP:0002013
137 constipation64 HP:0002019
138 gastroesophageal reflux64 54 Very frequent (99-80%) HP:0002020
139 poor suck64 HP:0002033
140 hypoplasia of the corpus callosum64 HP:0002079
141 pulmonary hypoplasia64 54 Frequent (79-30%) HP:0002089
142 intestinal malrotation64 HP:0002566
143 gastrointestinal dysmotility64 HP:0002579
144 cholestatic liver disease64 HP:0002611
145 hip dislocation64 54 Frequent (79-30%) HP:0002827
146 hypocholesterolemia64 HP:0003146
147 2-3 toe syndactyly64 54 Very frequent (99-80%) HP:0004691
148 depressed nasal bridge64 HP:0005280
149 sleep-wake cycle disturbance64 HP:0006979
150 periventricular gray matter heterotopia64 HP:0007165
151 hypoplasia of the frontal lobes64 HP:0007333
152 severe photosensitivity64 HP:0007537
153 short thumb64 HP:0009778
154 elevated 7-dehydrocholesterol64 54 Very frequent (99-80%) HP:0010569
155 epiphyseal stippling64 HP:0010655
156 hip subluxation64 HP:0030043
157 clitoromegaly54 Frequent (79-30%)
158 somnolence54 Frequent (79-30%)
159 global developmental delay54 Very frequent (99-80%)
160 growth delay54 Very frequent (99-80%)
161 gastroschisis54 Occasional (29-5%)
162 defect in the atrial septum54 Frequent (79-30%)
163 malformation of the heart and great vessels54 Frequent (79-30%)
164 recurrent infections54 Frequent (79-30%)
165 mesomelia54 Occasional (29-5%)
166 biparietal narrowing54 Frequent (79-30%)
167 wide intermamillary distance54 Frequent (79-30%)
168 atrioventricular canal defect54 Frequent (79-30%)
169 feeding difficulties in infancy54 Very frequent (99-80%)
170 rhizomelia54 Occasional (29-5%)

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-19.9APOE, LDLR
2GR00340-A-29.0ABCA1, APOE, HMGCR, LDLR

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

41
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

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

About this section

Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome27 24 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

36
Lung, Kidney, Heart, Bone, Eye, Tongue, Skin

Publications for Smith-Lemli-Opitz Syndrome

About this section

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
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. (27315086)
2016
3
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. (27244299)
2016
4
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. (27050588)
2016
5
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
6
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. (26976653)
2016
7
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. (26969503)
2016
8
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. (27306473)
2016
9
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. (27148958)
2016
10
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. (27053961)
2016
11
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. (27513191)
2016
12
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. (26685159)
2016
13
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
14
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
15
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. (25734025)
2015
16
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. (25668223)
2015
17
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. (25024934)
2014
18
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. (25117108)
2014
19
Brothers with Smith-Lemli-Opitz Syndrome. (24954735)
2014
20
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. (24142275)
2014
21
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. (24500076)
2014
22
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. (23896203)
2014
23
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? (25191210)
2014
24
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. (25039049)
2014
25
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. (24259532)
2014
26
Smith-lemli-opitz syndrome: a case with annular pancreas. (25165593)
2014
27
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. (25405082)
2014
28
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. (24813812)
2014
29
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. (24824134)
2014
30
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
31
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
32
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (23321614)
2013
33
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? (24533230)
2013
34
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. (23979708)
2013
35
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. (23022980)
2013
36
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. (23859856)
2013
37
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. (23541496)
2013
38
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. (23538569)
2013
39
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. (23918729)
2013
40
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. (23790112)
2013
41
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. (23828810)
2013
42
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. (23688395)
2013
43
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
44
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. (23361583)
2013
45
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. (22718275)
2013
46
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. (23628460)
2013
47
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. (23319240)
2013
48
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. (23422574)
2013
49
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). (23595802)
2013
50
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. (22929031)
2013

Variations for Smith-Lemli-Opitz Syndrome

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

70 (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
2endoplasmic reticulum membraneGO:00057899.3ABCA1, DHCR7, FDFT1, HMGCR, STS
3endoplasmic reticulumGO:00057839.3APOE, DHCR7, FDFT1, HMGCR, STS
4low-density lipoprotein particleGO:00343629.0APOE, LDLR
5intracellular membrane-bounded organelleGO:00432318.9ABCA1, 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:004544510.5HMGCR, SHH
2positive regulation of skeletal muscle tissue developmentGO:004864310.4HMGCR, SHH
3negative regulation of MAP kinase activityGO:004340710.2APOE, HMGCR
4lung developmentGO:003032410.1DHCR7, HMGCS2, SHH
5cholesterol effluxGO:003334410.1ABCA1, APOE
6high-density lipoprotein particle assemblyGO:003438010.0ABCA1, APOE
7lipoprotein biosynthetic processGO:004215810.0ABCA1, APOE
8isoprenoid biosynthetic processGO:000829910.0FDFT1, HMGCR, HMGCS2
9phospholipid effluxGO:00337009.9ABCA1, APOE
10cellular response to fatty acidGO:00713989.9HMGCS2, LDLR
11positive regulation of cholesterol effluxGO:00108759.9ABCA1, APOE
12regulation of Cdc42 protein signal transductionGO:00324899.9ABCA1, APOE
13cholesterol transportGO:00303019.8ABCA1, LDLR
14skin developmentGO:00435889.8SHH, STS
15reverse cholesterol transportGO:00436919.8ABCA1, APOE
16cholesterol biosynthetic processGO:00066959.8DHCR7, FDFT1, HMGCR, HMGCS2
17lipoprotein catabolic processGO:00421599.7APOE, LDLR
18phospholipid transportGO:00159149.7ABCA1, LDLR
19response to nutrientGO:00075849.6ABCA1, HMGCR, HMGCS2
20oxidation-reduction processGO:00551149.6CYP11A1, DHCR7, FDFT1, HMGCR
21cholesterol homeostasisGO:00426329.2ABCA1, APOE, LDLR
22lipoprotein metabolic processGO:00421579.2ABCA1, APOE, LDLR
23cholesterol metabolic processGO:00082038.7ABCA1, APOE, CYP11A1, LDLR

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.6ABCA1, APOE
2cholesterol transporter activityGO:00171279.3ABCA1, APOE

Sources for Smith-Lemli-Opitz Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet