SLOS
MCID: SMT004
MIFTS: 82

Smith-Lemli-Opitz Syndrome (SLOS) malady

Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Respiratory diseases categories
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Summaries for Smith-Lemli-Opitz Syndrome

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Fully expand this MalaCard
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 cerebrotendinous xanthomatosis and down syndrome, 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 Folate Metabolism. The compounds u18666a and 7-dehydrocholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and testes, and related mouse phenotypes are liver/biliary system and muscle.

Wikipedia:65 Smith?Lemli?Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error... more...

Description from OMIM:47 270400

GeneReviews summary for slo

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
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 65 19 20 22 21 47 10 45 49 62
7-dehydrocholesterol reductase deficiency 21 49 62
rsh syndrome 19 21 49
slos 19 21 49
slo syndrome 19 21
rutledge lethal multiple congenital anomaly syndrome 8
smith-opitz-inborn syndrome 8


External Ids:

Disease Ontology8 DOID:14692
MeSH35 D019082
NCIt40 C85071
OMIM47 270400
SNOMED-CT58 43929004
MESH via Orphanet36 D019082
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet59 43929004
UMLS via Orphanet63 C0175694, C2713347

Related Diseases for Smith-Lemli-Opitz Syndrome

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Smith-Lemli-Opitz Syndrome family:

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

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis30.8CYP27A1
2down syndrome30.6APOE, STS, CGB7
3hyperlipidemia type 330.6HMGCR, LDLR, APOE
4xanthomatosis30.5LDLR, APOE, ABCA1
5smith-lemli-opitz syndrome type 110.8
6retinitis10.8
7smith-lemli-opitz syndrome type 210.8
8retinal degeneration10.7
9cataract10.6
10polydactyly10.6
11malignant hyperthermia10.6
12autism spectrum disorder10.6
13hypertension10.6
14mental retardation10.6
15rubinstein-taybi syndrome10.4
16neuronitis10.4
17pallister-hall syndrome10.4
18holoprosencephaly10.4
19renal agenesis10.4
20mucolipidosis10.4
21achalasia10.4
22meckel syndrome10.4
23hydrolethalus syndrome10.4
24cholestasis10.4
25congenital heart disease10.4
26conjunctivitis10.4
27hepatitis10.4
28hypothyroidism10.4
29polyneuropathy10.4
30pseudohermaphroditism10.4
31developmental disabilities10.4
32dwarfism10.4
335-alpha reductase deficiency10.4
34chondrodysplasia10.4
35faces syndrome10.4
36germinoma10.4
37hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.4
38lathosterolosis10.4
39miller-dieker syndrome10.4
40precocious puberty10.4
41germ cell tumors10.4
42mixed germ cell tumor10.4
43renal dysplasia10.4
44macular holes10.2
45sitosterolemia10.1HMGCR
46lipoid adrenal hyperplasia10.1STAR
47chondrodysplasia punctata syndrome10.1EBP, STS
48children's interstitial lung disease10.1NSDHL, EBP
49congenital adrenal hyperplasia10.1STAR, CYP11A1
50congenital adrenal insufficiency10.1CYP11A1, STAR

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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

270400

Clinical features from OMIM:

270400

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Smith-Lemli-Opitz Syndrome

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

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Sources:
20GeneTests, 22GTR
See all sources

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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33MalaCards
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MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

33
Skin, Kidney, Testes, Lung, Spleen, Tongue, Eye, Bone, Brain, Cerebellum, Retina, Heart, Pituitary, Ovary, Liver, Monocytes

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

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37MGI
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Publications for Smith-Lemli-Opitz Syndrome

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Sources:
52PubMed
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Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 417)
idTitleAuthorsYear
1
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. (23896203)
2014
2
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
3
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
4
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (23321614)
2013
5
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. (23042642)
2012
6
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. (22438180)
2012
7
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. (21402677)
2011
8
Smith-Lemli-Opitz syndrome. (21777499)
2011
9
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. (21626671)
2011
10
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. (20804844)
2010
11
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. (20238050)
2010
12
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. (18381059)
2008
13
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. (18776754)
2008
14
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. (18556335)
2008
15
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. (16199034)
2006
16
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (14981719)
2004
17
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. (15464432)
2004
18
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. (14594996)
2004
19
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. (15005800)
2004
20
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. (14659996)
2003
21
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
22
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. (12364550)
2002
23
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (11298379)
2001
24
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (11471166)
2001
25
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. (11483057)
2001
26
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. (11505445)
2001
27
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. (11074502)
2000
28
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (10677299)
2000
29
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. (10564872)
1999
30
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. (10069708)
1999
31
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. (10411425)
1999
32
Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome. (10064734)
1999
33
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. (10327249)
1999
34
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. (9714007)
1998
35
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. (9523845)
1998
36
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. (8990234)
1997
37
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. (9061771)
1997
38
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. (10829981)
1996
39
Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. (8808767)
1996
40
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. (8884563)
1996
41
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. (8533850)
1995
42
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. (7706951)
1995
43
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. (7762564)
1995
44
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. (7778589)
1995
45
Smith-Lemli-Opitz syndrome in siblings. (1389317)
1992
46
Smith-Lemli-Opitz syndrome. (3425638)
1987
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
Picture of the month. Smith-Lemli-Opitz syndrome. (5689489)
1968

Variations for Smith-Lemli-Opitz Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Smith-Lemli-Opitz Syndrome:

64 (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

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

1 (show all 24)
id Gene Name Type Significance SNP ID Assembly Location
1DHCR7NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser)single nucleotide variantPathogenicrs80338862GRCh37Chr 11, 71146621: 71146621
2DHCR7NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter)single nucleotide variantPathogenicrs11555217GRCh37Chr 11, 71152447: 71152447
3DHCR7NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu)single nucleotide variantPathogenicrs80338855GRCh37Chr 11, 71152393: 71152393
4DHCR7NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys)single nucleotide variantPathogenicrs80338856GRCh37Chr 11, 71150032: 71150032
5DHCR7NM_001360.2(DHCR7): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs80338857GRCh37Chr 11, 71150031: 71150031
6DHCR7NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu)single nucleotide variantPathogenicrs80338858GRCh37Chr 11, 71148915: 71148915
7DHCR7DHCR7, IVS5DS, A-T, +3single nucleotide variantPathogenic
8DHCR7NM_001360.2(DHCR7): c.832-1G> Csingle nucleotide variantPathogenicrs80338863GRCh37Chr 11, 71148990: 71148990
9DHCR7DHCR7, 96-BP DELdeletionPathogenic
10DHCR7DHCR7, 1-BP INS, 505CinsertionPathogenic
11DHCR7DHCR7, 1-BP INS, 586TinsertionPathogenic
12DHCR7NM_001360.2(DHCR7): c.356A> T (p.His119Leu)single nucleotide variantPathogenicrs28938174GRCh37Chr 11, 71153365: 71153365
13DHCR7NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs121909764GRCh37Chr 11, 71150026: 71150026
14DHCR7NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys)single nucleotide variantPathogenicrs104894212GRCh37Chr 11, 71150012: 71150012
15DHCR7NM_001360.2(DHCR7): c.278C> T (p.Thr93Met)single nucleotide variantPathogenicrs80338853GRCh37Chr 11, 71155082: 71155082
16DHCR7NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter)single nucleotide variantPathogenicrs104894213GRCh37Chr 11, 71152446: 71152446
17DHCR7NM_001360.2(DHCR7): c.976G> T (p.Val326Leu)single nucleotide variantPathogenicrs80338859GRCh37Chr 11, 71146873: 71146873
18DHCR7DHCR7, TRP37TERsingle nucleotide variantPathogenic
19DHCR7NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs80338860GRCh37Chr 11, 71146795: 71146795
20DHCR7NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys)single nucleotide variantPathogenicrs61757582GRCh37Chr 11, 71146639: 71146639
21DHCR7NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile)single nucleotide variantPathogenicrs121909765GRCh37Chr 11, 71148955: 71148955
22DHCR7NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys)single nucleotide variantPathogenicrs121909766GRCh37Chr 11, 71148982: 71148982
23DHCR7NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys)single nucleotide variantPathogenicrs80338864GRCh37Chr 11, 71146507: 71146507
24DHCR7NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121909768GRCh37Chr 11, 71146794: 71146794

Expression for genes affiliated with Smith-Lemli-Opitz Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 51PharmGKB, 38NCBI BioSystems Database, 30KEGG, 5Cell Signaling Technology, 55Reactome
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Pathways related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1FDFT1, HMGCR
2
Show member pathways
Vitamin B12 Metabolism38
9.8APOE, ABCA1
39.6HMGCR, LDLR, ABCA1
49.6CYP11A1, LDLR, STAR
59.6STAR, APOE, CYP11A1
6
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
9.5SRD5A1, STS, CYP11A1
7
Show member pathways
9.4LDLR, APOE, ABCA1
8
Show member pathways
9.4CYP11A1, STAR, SRD5A1
9
Show member pathways
Cholesterol biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.4HMGCR, DHCR7, NSDHL, FDFT1, EBP
109.3SRD5A1, DHRS9
11
Show member pathways
9.2SCAP, FDFT1, LDLR, DHCR7, HMGCR
12
Show member pathways
9.1DHRS9, LDLR, APOE
13
Show member pathways
9.0ABCA1, APOE, FDFT1, LDLR, HMGCR
14
Show member pathways
5.9HMGCR, ABCA1, EBP, CYP27A1, CYP11A1, SCAP

Compounds for genes affiliated with Smith-Lemli-Opitz Syndrome

About this section
Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience
See all sources

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

(show top 50)    (show all 131)
idCompoundScoreTop Affiliating Genes
1u18666a459.8LDLR, HMGCR, EBP
27-dehydrocholesterol45 2410.8HMGCR, CYP27A1, CYP11A1, FDFT1, DHCR7
324s-hydroxy-cholesterol459.8HMGCR, APOE, CYP27A1, ABCA1
4farnesyl diphosphate45 29 1111.7LDLR, ABCA1, HMGCR, FDFT1
53-hydroxy-3-methylglutaryl-coa45 2410.7LDLR, ABCA1, FDFT1, HMGCR
6beta sitosterol459.7ABCA1, SRD5A1, HMGCR
7squalene45 2410.6HMGCR, DHCR7, LDLR, FDFT1, SCAP
8probucol45 1110.6ABCA1, APOE, LDLR, HMGCR
9bezafibrate45 29 1111.5LDLR, HMGCR, APOE, ABCA1
10lathosterol45 2410.5APOE, HMGCR, LDLR, NSDHL, EBP
11cholesterol ester459.4APOE, HMGCR, ABCA1, FDFT1, LDLR
1222r-hydroxycholesterol45 2910.3CYP11A1, ABCA1, STAR, LDLR, APOE
13alpha tocopherol459.3CYP11A1, APOE, LDLR, HMGCR, ABCA1
14mevalonate459.3FDFT1, LDLR, HMGCR, ABCA1
1527-hydroxycholesterol45 2910.3HMGCR, STAR, CYP11A1, CYP27A1, ABCA1, LDLR
16lovastatin45 51 61 29 1113.3HMGCR, DHCR7, LDLR, APOE, SCAP, FDFT1
17fenofibrate45 51 1111.2ABCA1, HMGCR, LDLR, APOE
18hydroxysteroid459.2STS, SRD5A1, DHRS9, CYP11A1
19chenodeoxycholic acid45 29 24 1112.2DHRS9, LDLR, HMGCR, CYP27A1
20ketoconazole45 29 24 1112.2CYP11A1, HSD3BP4, SRD5A1, HMGCR
21NADP249.1CYP27A1, FDFT1, HMGCR, NSDHL, DHRS9, DHCR7
22androstenol459.1HSD3BP4, SRD5A1, DHRS9
23pravastatin45 51 29 24 1113.1HMGCR, ABCA1, SCAP, APOE, FDFT1, LDLR
245,16-androstadien-3beta-ol459.1DHRS9, HSD3BP4, SRD5A1
25dehydroepiandrosterone sulfate459.1STS, CYP11A1, SRD5A1, HSD3BP4
26atorvastatin45 51 29 24 1113.1ABCA1, SCAP, APOE, FDFT1, LDLR, HMGCR
27progestin459.0HSD3BP4, SRD5A1, STAR, STS, CYP11A1
28prostacyclin459.0CYP27A1, APOE, HMGCR, KCNMA1, LDLR
2925-hydroxycholesterol45 29 2411.0HSD3BP4, SCAP, LDLR, HMGCR, ABCA1, CYP11A1
30dihydroprogesterone458.9CYP11A1, SRD5A1, DHRS9, HSD3BP4
31phosphatidylcholine458.9LDLR, APOE, ABCA1, STAR, CYP11A1
32steroidal458.9SRD5A1, HSD3BP4, DHRS9, STS
3311beta-hydroxysteroid458.8HSD3BP4, SRD5A1, DHRS9, CYP11A1
34phospholipid458.8STAR, APOE, LDLR, KCNMA1, CYP11A1, ABCA1
35simvastatin45 51 61 29 24 1113.7FDFT1, DHCR7, HMGCR, APOE, SCAP, CYP27A1
36dhea458.7KCNMA1, SRD5A1, CYP11A1, STS, HSD3BP4, STAR
37androstanedione45 24 1110.5HSD3BP4, DHRS9, SRD5A1
38nadph45 249.5DHRS9, DHCR7, HMGCR, NSDHL, FDFT1, KCNMA1
3917beta-hydroxysteroid458.5CYP11A1, SRD5A1, STS, STAR, HSD3BP4, DHRS9
40estradiol45 24 1110.2CYP11A1, KCNMA1, HSD3BP4, STS, SRD5A1, CGB7
41dexamethasone45 51 29 1111.1SRD5A1, STAR, CYP27A1, LDLR, HSD3BP4, CYP11A1
423beta-hydroxysteroid457.8DHRS9, SRD5A1, STS, STAR, NSDHL, FDFT1
43sterol457.7ABCA1, DHCR7, STAR, STS, EBP, CYP27A1
44retinoic acid45 248.7CYP27A1, CYP11A1, DHRS9, STS, SRD5A1, CGB7
45progesterone45 29 61 24 1111.6CGB7, SRD5A1, STAR, DHRS9, STS, HSD3BP4
46steroid457.6DHCR7, CYP27A1, CYP11A1, STAR, STS, SRD5A1
47lipid457.5CYP11A1, STS, STAR, LDLR, NSDHL, FDFT1
48estrogen457.3DHRS9, SRD5A1, STS, CYP11A1, LDLR, APOE
49testosterone45 61 24 119.7STS, CGB7, SRD5A1, STAR, DHRS9, APOE
50cholesterol45 29 24 118.7SHH, KCNMA1, CYP11A1, CYP27A1, ABCA1, HSD3BP4

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

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Smith-Lemli-Opitz Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial cristaGO:0300619.8STAR, CYP11A1
2low-density lipoprotein particleGO:0343629.8LDLR, APOE
3Golgi apparatusGO:0057948.6ABCA1, SCAP, APOE, LDLR, STS
4endoplasmic reticulumGO:0057838.5HMGCR, EBP, KCNMA1, SCAP, FDFT1, NSDHL
5endoplasmic reticulum membraneGO:0057898.3EBP, SCAP, FDFT1, NSDHL, DHCR7, STS

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

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of skeletal muscle tissue developmentGO:04864310.5SHH, HMGCR
2isoprenoid biosynthetic processGO:00829910.4HMGCR, FDFT1
3fractalkine metabolic processGO:05075610.4STAR, CYP11A1
4response to fungicideGO:06099210.3CYP11A1, STAR
5dibenzo-p-dioxin metabolic processGO:01889410.3CYP11A1, STAR
6biphenyl metabolic processGO:01887910.3CYP11A1, STAR
7testosterone biosynthetic processGO:06137010.3CYP11A1, STAR
8phthalate metabolic processGO:01896310.3CYP11A1, STAR
9myoblast differentiationGO:04544510.3SHH, HMGCR
10phenol-containing compound metabolic processGO:01895810.3CYP11A1, STAR
11C21-steroid hormone biosynthetic processGO:00670010.3STAR, CYP11A1
12progesterone biosynthetic processGO:00670110.3STAR, CYP11A1
13cellular response to follicle-stimulating hormone stimulusGO:07137210.3STAR, CYP11A1
14estrogen biosynthetic processGO:00670310.3CYP11A1, STAR
15intracellular cholesterol transportGO:03236710.2ABCA1, STAR
16cellular response to antibioticGO:07123610.2CYP11A1, STAR
17negative regulation of cholesterol biosynthetic processGO:04554110.2APOE, SCAP
18sterol metabolic processGO:01612510.2CYP27A1, CYP11A1
19regulation of Cdc42 protein signal transductionGO:03248910.2ABCA1, APOE
20high-density lipoprotein particle assemblyGO:03438010.2ABCA1, APOE
21cellular response to cadmium ionGO:07127610.2STAR, CYP11A1
22lipoprotein catabolic processGO:04215910.2APOE, LDLR
23phospholipid effluxGO:03370010.1APOE, ABCA1
24regulation of neuronal synaptic plasticityGO:04816810.1APOE, STAR
25positive regulation of cholesterol effluxGO:01087510.1ABCA1, APOE
26cellular response to fibroblast growth factor stimulusGO:04434410.1CYP11A1, STAR
27cellular response to cholesterolGO:07139710.1ABCA1, APOE
28response to nutrientGO:00758410.0HMGCR, STAR, ABCA1
29response to corticosteroneGO:05141210.0STAR, CYP11A1
30steroid biosynthetic processGO:00669410.0STAR, FDFT1
31cellular response to lipopolysaccharideGO:07122210.0ABCA1, CYP11A1, STAR
32bile acid biosynthetic processGO:00669910.0STAR, CYP27A1
33reverse cholesterol transportGO:04369110.0APOE, ABCA1
34response to ethanolGO:04547110.0HMGCR, STAR, APOE
35agingGO:0075689.9HMGCR, APOE, SCAP
36lipoprotein metabolic processGO:0421579.9ABCA1, APOE, LDLR
37androgen metabolic processGO:0082099.9DHRS9, SHH
38cholesterol homeostasisGO:0426329.8LDLR, APOE, ABCA1
39cholesterol biosynthetic processGO:0066959.8EBP, FDFT1, NSDHL, DHCR7, HMGCR
40steroid metabolic processGO:0082029.8CYP11A1, STAR, SRD5A1
41cellular lipid metabolic processGO:0442559.6ABCA1, FDFT1, HMGCR
42establishment of cell polarityGO:0300109.6SHH, CFL1
43cholesterol effluxGO:0333449.5APOE, ABCA1
44cholesterol metabolic processGO:0082038.5STAR, LDLR, APOE, SCAP, CYP11A1, CYP27A1
45small molecule metabolic processGO:0442817.0HMGCR, ABCA1, EBP, CYP27A1, CYP11A1, SRD5A1

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:0154859.6STAR, CYP11A1, ABCA1
2cholesterol transporter activityGO:0171279.2STAR, APOE, ABCA1

Products for genes affiliated with Smith-Lemli-Opitz Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Smith-Lemli-Opitz Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet