SLOS
MCID: SMT004
MIFTS: 84

Smith-Lemli-Opitz Syndrome (SLOS) malady

Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Fetal diseases categories

Summaries for Smith-Lemli-Opitz Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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).

MalaCards: Smith-Lemli-Opitz Syndrome, also known as 7-dehydrocholesterol reductase deficiency, is related to hypertension and polydactyly, and has symptoms including enamel anomaly, premature eruption of teeth/natal teeth and sensorineural deafness/hearing loss. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-dehydrocholesterol reductase), and among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and Endogenous sterols. The compounds estrogen and lanosterol have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and heart, and related mouse phenotypes are limbs/digits/tail and nervous system.

Wikipedia:63 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn... more...

Description from OMIM:46 270400

GeneReviews summary for slo

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
smith-lemli-opitz syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

smith-lemli-opitz syndrome 8 9 63 19 20 22 21 46 10 44 48 60
7-dehydrocholesterol reductase deficiency 21 48 60
rsh syndrome 19 21 48
slos 19 21 48
slo syndrome 19 21
rutledge lethal multiple congenital anomaly syndrome 8
smith-opitz-inborn syndrome 8


External Ids:

Disease Ontology8 DOID:14692
OMIM46 270400
MeSH34 D019082
NCIt39 C85071
SNOMED-CT56 43929004
MESH via Orphanet35 D019082
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 43929004
UMLS via Orphanet61 C0175694, C2713347

Related Diseases for Smith-Lemli-Opitz Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Smith-Lemli-Opitz Syndrome family:

Smith-Lemli-Opitz Syndrome Type 2 Smith-Lemli-Opitz Syndrome Type 1

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.8APOE
2polydactyly30.7DHCR7, SHH
3pallister-hall syndrome30.5SHH
4holoprosencephaly30.5SHH, DHCR7
5hepatitis30.5LDLR
6cerebrotendinous xanthomatosis30.5CYP27A1
7xanthomatosis30.5LDLR, APOE
8hyperlipidemia type 330.5LDLR, HMGCR, APOE
9retinitis10.8
10smith-lemli-opitz syndrome type 210.8
11smith-lemli-opitz syndrome type 110.8
12retinal degeneration10.7
13adult syndrome10.6
14cataract10.6
15malignant hyperthermia10.5
16down syndrome10.5
17autism spectrum disorder10.5
18image syndrome10.5
19rubinstein-taybi syndrome10.4
20renal agenesis10.4
21mucolipidosis10.4
22achalasia10.4
23neuronitis10.4
24hydrolethalus syndrome10.4
25meckel syndrome10.4
26hallermann-streiff syndrome10.4
27hepatitis a10.4
28cholestasis10.4
29congenital heart defect10.4
30conjunctivitis10.4
31hypothyroidism10.4
32polyneuropathy10.4
33pseudohermaphroditism10.4
34developmental disabilities10.4
35dwarfism10.4
36hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.4
37macular holes10.1
38sitosterolemia10.0HMGCR
39hypogonadism10.0STS
40syndactyly10.0DHCR7
41prostatitis10.0SRD5A1
42lipoid adrenal hyperplasia10.0STAR
43colorectal cancer10.0LDLR
44children's interstitial lung disease10.0NSDHL, EBP
45chondrodysplasia punctata syndrome10.0STS, EBP
46nevoid basal cell carcinoma syndrome10.0SHH, SMO
47congenital adrenal insufficiency10.0STAR, CYP11A1
48anencephaly10.0STS
49chondrodysplasia punctata 2 x-linked dominant10.0NSDHL, STS, EBP
50congenital adrenal hyperplasia10.0STAR, CYP11A1

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



Diseases related to smith-lemli-opitz syndrome

Clinical Features for Smith-Lemli-Opitz Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

270400

Clinical synopsis from OMIM:

270400

Symptoms:

48 (show all 106)
  • enamel anomaly
  • premature eruption of teeth/natal teeth
  • sensorineural deafness/hearing loss
  • anomalies of the ribs
  • kyphosis
  • scoliosis
  • abnormal vertebral size/shape
  • rhizomelic micromelia
  • mesomelic micromelia
  • anodontia/oligodontia/hypodontia
  • supernumerary teeth/polyodontia
  • sclerocornea
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • strabismus/squint
  • nystagmus
  • epicanthic folds
  • long/thick/curved lashes/trichomegaly/polytrichia
  • choanal atresia
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • cleft/notched/bifid tongue
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • multicystic kidney/renal dysplasia
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • stillbirth/neonatal death
  • narrow forehead
  • ectopic/horseshoe/fused kidneys
  • agenesis/hypoplasia/aplasia of kidneys
  • oligodactyly/ectrodactyly of fingers
  • ulnar deviation of fingers
  • talipes-varus/metatarsal varus
  • decreased hair pigmentation/hypopigmentation of hair
  • gastric/pyloric stenosis
  • gallbladder/common bile duct anomalies
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • diaphragmatic hernia/defect/agenesis
  • patent ductus arteriosus
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • coloboma of iris
  • microcephaly
  • macrostomia/big mouth
  • long philtrum
  • thickened/hypertrophic/fibromatous gingivae
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • short neck
  • abnormally placed nipples
  • metacarpal anomalies/archibald's sign
  • postaxial polydactyly (hand)
  • proximally set thumb
  • postaxial polydactyly of toes/fifth supernumerary toe
  • cutis marmorata/marbled skin/livedo
  • skin photosensitivity
  • ptosis
  • increased nuchal translucency
  • micrognathia/retrognathia/micrognathism/retrognathism
  • broad nose/nasal bridge
  • anteverted nares/nostrils
  • high vaulted/narrow palate
  • tooth shape anomaly
  • abnormal dermatoglyphics
  • syndactyly of toes
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hypotonia
  • lipid metabolism anomalies
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • larynx/laryngeal stenosis/atresia
  • somnolence/hypersomnia/parasomnia
  • hyperactivity/attention deficit
  • autism/autistic disoders
  • auto-aggressivity/auto-mutilation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polyhydramnios
  • intrauterine growth retardation
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • sleep and vigilance disorders
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • tracheal atresia/stenosis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • absent lobe/lung/segmentation defect/abnormal lobulation/sequestration
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • atrioventricular canal
  • ambiguous genitalia
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • glaucoma

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Smith-Lemli-Opitz Syndrome

Drug clinical trials:

Search ClinicalTrials for Smith-Lemli-Opitz Syndrome

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Search CenterWatch for Smith-Lemli-Opitz Syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome20 22 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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32MalaCards
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MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

32
Kidney, Lung, Heart, Skin, Testes, Spleen, Tongue, Eye, Bone, Brain, Cerebellum, Retina, Liver, Ovary, Pituitary, Monocytes

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

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36MGI
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MGI Mouse Phenotypes related to Smith-Lemli-Opitz Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7NSDHL, DHCR7, KIF7
2MP:00036318.2APOE, SHH, FDFT1, CYP11A1, DHCR7, KIF7
3MP:00053787.7NSDHL, APOE, STAR, SHH, FDFT1, EBP
4MP:00053767.7STAR, SCAP, APOE, NSDHL, SHH, CYP11A1
5MP:00107687.6SMO, NSDHL, APOE, STAR, SHH, FDFT1

Publications for Smith-Lemli-Opitz Syndrome

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50PubMed
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Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 427)
idTitleAuthorsYear
1
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. (23896203)
2014
2
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. (23422574)
2013
3
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. (23042602)
2012
4
Mutational spectrum of Smith-Lemli-Opitz syndrome. (23042628)
2012
5
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. (21724437)
2011
6
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. (19365639)
2010
7
Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. (19856245)
2009
8
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. (18776754)
2008
9
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. (18285838)
2008
10
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. (18776762)
2008
11
Smith-Lemli-Opitz syndrome and autism spectrum disorder. (17974928)
2007
12
The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. (17650909)
2007
13
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. (17365127)
2007
14
Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. (16458195)
2006
15
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. (16814115)
2006
16
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. (16618793)
2006
17
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. (16678134)
2006
18
Surgical implications of the Smith-Lemli-Opitz syndrome. (15834578)
2005
19
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
20
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. (15805162)
2005
21
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. (15896653)
2005
22
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. (15192627)
2004
23
Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. (12818773)
2003
24
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
25
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. (12070263)
2002
26
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. (11562938)
2001
27
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. (11254748)
2001
28
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. (10443904)
1999
29
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. (10631931)
1999
30
Biochemical variants of Smith-Lemli-Opitz syndrome. (10405455)
1999
31
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. (10073912)
1999
32
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. (9683618)
1998
33
MRI in Smith-Lemli-Opitz syndrome type 1. (9403196)
1997
34
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. (10829981)
1996
35
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. (7706951)
1995
36
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. (7664465)
1995
37
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. (7778590)
1995
38
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. (7608816)
1995
39
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. (8116676)
1994
40
Smith-Lemli-Opitz syndrome. (8244478)
1993
41
Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. (1354158)
1992
42
Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome. (2542142)
1989
43
Smith-Lemli-Opitz syndrome. (3425638)
1987
44
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. (6437074)
1984
45
Ocular manifestations of the Smith-Lemli-Opitz syndrome. (7295150)
1981
46
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. (844667)
1977
47
Smith-Lemli-Opitz syndrome: two further cases. (1110157)
1975
48
Three sisters with the Smith-Lemli-Opitz syndrome. (4213791)
1974
49
Smith-Lemli-Opitz syndrome. (5349196)
1969
50
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. (5642353)
1968

Genetic Variations for Smith-Lemli-Opitz Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Smith-Lemli-Opitz Syndrome:

62 (show all 53)
id Symbol AA change Variation ID SNP ID
1DHCR7p.Pro51SerVAR_012717
2DHCR7p.Thr93MetVAR_012718
3DHCR7p.Leu99ProVAR_012719
4DHCR7p.His119LeuVAR_012720rs28938174
5DHCR7p.Leu157ProVAR_012721
6DHCR7p.Gly244ArgVAR_012722
7DHCR7p.Ala247ValVAR_012723
8DHCR7p.Trp248CysVAR_012724rs28939698
9DHCR7p.Thr289IleVAR_012725
10DHCR7p.Val326LeuVAR_012726
11DHCR7p.Arg352TrpVAR_012727
12DHCR7p.Cys380SerVAR_012728
13DHCR7p.Arg404CysVAR_012729
14DHCR7p.Gly410SerVAR_012730
15DHCR7p.Glu448LysVAR_016975
16DHCR7p.Leu68ProVAR_023148
17DHCR7p.Gln107HisVAR_023149
18DHCR7p.Leu109ProVAR_023150
19DHCR7p.Ser113CysVAR_023151
20DHCR7p.Gly138ValVAR_023152
21DHCR7p.Ile145LeuVAR_023153
22DHCR7p.Gly147AspVAR_023154
23DHCR7p.Thr154MetVAR_023155
24DHCR7p.Ser169LeuVAR_023156
25DHCR7p.Trp182CysVAR_023157
26DHCR7p.Trp182LeuVAR_023158
27DHCR7p.Cys183TyrVAR_023159
28DHCR7p.Lys198GluVAR_023160
29DHCR7p.Phe235SerVAR_023161
30DHCR7p.Arg242CysVAR_023162
31DHCR7p.Arg242HisVAR_023163
32DHCR7p.Phe255LeuVAR_023164
33DHCR7p.Val281MetVAR_023165
34DHCR7p.Ile297ThrVAR_023166
35DHCR7p.Cys311GlyVAR_023167
36DHCR7p.Cys311TyrVAR_023168
37DHCR7p.Tyr324HisVAR_023169
38DHCR7p.Gly344ArgVAR_023170
39DHCR7p.Arg352GlnVAR_023171
40DHCR7p.Val353AlaVAR_023172
41DHCR7p.Arg362CysVAR_023173
42DHCR7p.Cys380ArgVAR_023174
43DHCR7p.Cys380TyrVAR_023175
44DHCR7p.Ser397LeuVAR_023176
45DHCR7p.Arg404SerVAR_023177
46DHCR7p.His405TyrVAR_023178
47DHCR7p.Tyr408HisVAR_023179
48DHCR7p.Gly410ArgVAR_023180
49DHCR7p.His426ProVAR_023181
50DHCR7p.Arg443CysVAR_023182
51DHCR7p.Arg446GlnVAR_023183
52DHCR7p.Glu448GlnVAR_023184
53DHCR7p.Arg450LeuVAR_023185

Expression for genes affiliated with Smith-Lemli-Opitz Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Smith-Lemli-Opitz Syndrome

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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Sources:
49PharmGKB, 53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Smith-Lemli-Opitz Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1estrogen4410.2SRD5A1
2lanosterol44 1111.2FDFT1, EBP, HMGCR
3u18666a4410.1LDLR, HMGCR, EBP
424s-hydroxy-cholesterol4410.1HMGCR, CYP27A1, APOE
5monobutyl phthalate4410.0CYP11A1, STAR
6cholestyramine4410.0APOE, HMGCR, LDLR
77-dehydrocholesterol44 2410.9FDFT1, CYP11A1, CYP27A1, DHCR7, HMGCR
87-ketocholesterol44 2410.9HMGCR, CYP27A1, APOE
9cholesterol ester449.9APOE, FDFT1, HMGCR, LDLR
1022r-hydroxycholesterol44 2810.8LDLR, CYP11A1, STAR, APOE
11squalene44 2410.8SCAP, FDFT1, DHCR7, HMGCR, LDLR
12zaragozic acid a44 2810.8HMGCR, FDFT1
1327-hydroxycholesterol44 2810.8STAR, CYP11A1, CYP27A1, HMGCR, LDLR
14chenodeoxycholic acid44 28 11 2412.8CYP27A1, DHRS9, HMGCR, LDLR
15lathosterol44 2410.7NSDHL, APOE, EBP, HMGCR, LDLR
16probucol44 1110.7LDLR, HMGCR, APOE
17pravastatin44 49 28 11 2413.6APOE, SCAP, FDFT1, HMGCR, LDLR
185,16-androstadien-3beta-ol449.6HSD3BP4, DHRS9, SRD5A1
19androstenol449.6HSD3BP4, DHRS9, SRD5A1
20hydroxysteroid449.6STS, CYP11A1, DHRS9, SRD5A1
21doca449.6SRD5A1, CYP11A1, HSD3BP4
2225-hydroxycholesterol44 28 2411.6HSD3BP4, SCAP, CYP11A1, HMGCR, LDLR
23androstanedione44 11 2411.5HSD3BP4, DHRS9, SRD5A1
24lovastatin44 49 59 28 1113.5APOE, SCAP, FDFT1, DHCR7, HMGCR, LDLR
25ketoconazole44 28 11 2412.5HSD3BP4, CYP11A1, HMGCR, SRD5A1
26dehydroepiandrosterone sulfate449.5HSD3BP4, STS, CYP11A1, SRD5A1
273alpha-hydroxysteroid449.4HSD3BP4, DHRS9, SRD5A1
28dihydroprogesterone449.4SRD5A1, DHRS9, CYP11A1, HSD3BP4
29steroidal449.4SRD5A1, DHRS9, STS, HSD3BP4
30alpha tocopherol449.4APOE, CYP11A1, HMGCR, LDLR
3111beta-hydroxysteroid449.4HSD3BP4, CYP11A1, DHRS9, SRD5A1
32dhea449.3HSD3BP4, STAR, STS, CYP11A1, SRD5A1
33nadph44 2410.3NSDHL, FDFT1, CYP11A1, CYP27A1, DHRS9, DHCR7
34progestin449.3HSD3BP4, STAR, STS, CYP11A1, SRD5A1
35simvastatin44 49 59 28 11 2414.3APOE, SCAP, FDFT1, CYP27A1, DHCR7, HMGCR
36androstenedione44 2410.3HSD3BP4, STAR, CYP11A1, SRD5A1
375alpha-androstane-3alpha,17beta-diol449.2HSD17B6, HSD3BP4, DHRS9, SRD5A1
38nadh44 11 2411.1HSD17B6, HSD3BP4, NSDHL, DHRS9, DHCR7, HMGCR
39dihydrotestosterone44 28 11 2412.1HSD17B6, STS, CYP11A1, DHRS9, SRD5A1
40estrone44 28 11 2412.1HSD17B6, HSD3BP4, STS, SRD5A1
4117beta-hydroxysteroid449.0HSD3BP4, STAR, STS, CYP11A1, DHRS9, SRD5A1
42dexamethasone44 49 28 1111.6HSD3BP4, STAR, CYP11A1, CYP27A1, HMGCR, SRD5A1
43estradiol44 11 2410.6HSD17B6, HSD3BP4, STAR, STS, CGB7, CYP11A1
44steroid448.6HSD3BP4, STAR, STS, CYP11A1, CYP27A1, DHRS9
45lipid448.6NSDHL, APOE, SCAP, STAR, STS, FDFT1
46progesterone44 59 28 11 2412.5HSD3BP4, STAR, STS, CGB7, CYP11A1, DHRS9
47sterol448.5CYP11A1, EBP, FDFT1, STS, STAR, SCAP
483beta-hydroxysteroid448.4HSD3BP4, SRD5A1, DHRS9, CYP11A1, EBP, FDFT1
49testosterone44 59 11 2410.4HSD17B6, HSD3BP4, APOE, SCAP, STAR, STS
50cholesterol44 28 11 2410.3LDLR, HMGCR, DHCR7, DHRS9, CYP27A1, CYP11A1

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

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Sources:
16Gene Ontology
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Cellular components related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:0343629.9LDLR, APOE
2mitochondrial cristaGO:0300619.7CYP11A1, STAR
3endoplasmic reticulumGO:0057838.7HMGCR, HSD17B6, NSDHL, SCAP, STS, FDFT1
4endoplasmic reticulum membraneGO:0057898.4NSDHL, SCAP, STS, FDFT1, EBP, DHCR7

Biological processes related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of skeletal muscle tissue developmentGO:04864310.5HMGCR, SHH
2fractalkine metabolic processGO:05075610.4CYP11A1, STAR
3response to fungicideGO:06099210.4STAR, CYP11A1
4dibenzo-p-dioxin metabolic processGO:01889410.4STAR, CYP11A1
5biphenyl metabolic processGO:01887910.4STAR, CYP11A1
6testosterone biosynthetic processGO:06137010.4STAR, CYP11A1
7phthalate metabolic processGO:01896310.4STAR, CYP11A1
8phenol-containing compound metabolic processGO:01895810.4STAR, CYP11A1
9progesterone biosynthetic processGO:00670110.4STAR, CYP11A1
10isoprenoid biosynthetic processGO:00829910.4FDFT1, HMGCR
11C21-steroid hormone biosynthetic processGO:00670010.4STAR, CYP11A1
12cellular response to follicle-stimulating hormone stimulusGO:07137210.3CYP11A1, STAR
13cellular response to antibioticGO:07123610.3STAR, CYP11A1
14negative regulation of cholesterol biosynthetic processGO:04554110.3APOE, SCAP
15estrogen biosynthetic processGO:00670310.3STAR, CYP11A1
16lipoprotein catabolic processGO:04215910.3APOE, LDLR
17positive regulation of hh target transcription factor activityGO:00722810.3SHH, SMO
18determination of left/right asymmetry in lateral mesodermGO:00314010.3SHH, SMO
19smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.2SHH, SMO
20myoblast differentiationGO:04544510.2SHH, HMGCR
21somite developmentGO:06105310.2SMO, SHH
22cellular response to cadmium ionGO:07127610.2STAR, CYP11A1
23regulation of neuronal synaptic plasticityGO:04816810.2APOE, STAR
24renal system developmentGO:07200110.1SHH, SMO
25thalamus developmentGO:02179410.1SHH, SMO
26sterol metabolic processGO:01612510.1CYP11A1, CYP27A1
27response to ethanolGO:04547110.1HMGCR, STAR, APOE
28positive regulation of protein import into nucleusGO:04230710.0SHH, SMO
29positive regulation of smoothened signaling pathwayGO:04588010.0SHH, KIF7, SMO
30response to corticosterone stimulusGO:05141210.0CYP11A1, STAR
31cellular response to cholesterolGO:07139710.0SMO, APOE
32smoothened signaling pathwayGO:00722410.0NSDHL, SHH, SMO
33dorsal/ventral neural tube patterningGO:02190410.0SHH, SMO
34agingGO:00756810.0HMGCR, SCAP, APOE
35androgen metabolic processGO:00820910.0SHH, DHRS9
36cholesterol biosynthetic processGO:0066959.9NSDHL, FDFT1, EBP, DHCR7, HMGCR
37steroid metabolic processGO:0082029.9SRD5A1, CYP11A1, STAR
38androgen biosynthetic processGO:0067029.8SRD5A1, HSD17B6
39cell fate specificationGO:0017089.7SMO, SHH
40positive regulation of neuroblast proliferationGO:0020529.5SMO, SHH
41cholesterol metabolic processGO:0082039.2LDLR, APOE, SCAP, STAR, EBP, CYP11A1
42small molecule metabolic processGO:0442817.7NSDHL, APOE, SCAP, STAR, STS, FDFT1

Molecular functions related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:0051139.7SHH, SMO
2testosterone dehydrogenase (NAD+) activityGO:0470359.7DHRS9, HSD17B6
3retinol dehydrogenase activityGO:0047459.7DHRS9, HSD17B6
4cholesterol transporter activityGO:0171279.6STAR, APOE
5electron carrier activityGO:0090559.2SRD5A1, CYP27A1, CYP11A1, HSD17B6

Products for genes affiliated with Smith-Lemli-Opitz Syndrome

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  • Proteins
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Sources for Smith-Lemli-Opitz Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet