SLOS
MCID: SMT004
MIFTS: 72

Smith-Lemli-Opitz Syndrome (SLOS) malady

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

Summaries for Smith-Lemli-Opitz Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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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 polydactyly and pallister-hall syndrome, and has symptoms including microcephaly, micrognathia/retrognathia/micrognathism/retrognathism and broad nose/nasal bridge. 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 whole blood, spleen and brain, and related mouse phenotypes are limbs/digits/tail and nervous system.

Wikipedia:64 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn... more...

Description from OMIM:47 270400

GeneReviews summary for slo

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Nephrological, Bone, Metabolic, Endocrine


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 64 19 20 22 21 47 10 45 49 61
7-dehydrocholesterol reductase deficiency 21 49 61
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
OMIM47 270400
MeSH35 D019082
NCIt40 C85071
SNOMED-CT57 43929004
MESH via Orphanet36 D019082
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 43929004
UMLS via Orphanet62 C0175694, C2713347

Related Diseases for Smith-Lemli-Opitz Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 92)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.8DHCR7, SHH
2pallister-hall syndrome30.6SHH
3holoprosencephaly30.5SHH, DHCR7
4chondrodysplasia punctata syndrome30.5STS, EBP
5cerebrotendinous xanthomatosis30.5CYP27A1
6xanthomatosis30.5LDLR, APOE
7hyperlipidemia type 330.5LDLR, HMGCR, APOE
8n syndrome11.1
9char syndrome10.9
10mass syndrome10.9
11smith-lemli-opitz syndrome type 210.8
12smith-lemli-opitz syndrome type 110.8
13hirschsprung's disease10.7
14adult syndrome10.7
15malignant hyperthermia10.5
16autism spectrum disorder10.5
17mental retardation10.5
18rubinstein-taybi syndrome10.4
19renal agenesis10.4
20mucolipidosis10.4
21achalasia10.4
22conn's syndrome10.4
23down syndrome10.4
24hydrolethalus syndrome10.4
25meckel syndrome10.4
26hallermann-streiff syndrome10.4
27developmental disabilities10.4
28dwarfism10.4
29micro syndrome10.4
30short syndrome10.4
31young syndrome10.4
32bod syndrome10.4
33chondrodysplasia10.4
34cousin syndrome10.4
35precocious puberty10.4
36germinoma10.4
37lathosterolosis10.4
38malignant germ cell tumor10.4
39miller-dieker syndrome10.4
40mast syndrome10.4
41mixed germ cell tumor10.4
42null syndrome10.4
43serotonin syndrome10.4
44renal dysplasia10.4
45bilateral renal dysplasia10.4
46macular holes10.2
47cystoid macular edema10.0
48sitosterolemia10.0HMGCR
49hypogonadism10.0STS
50syndactyly10.0DHCR7

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

270400

Clinical synopsis from OMIM:

270400

Symptoms:

49 (show all 106)
  • microcephaly
  • 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
  • increased nuchal translucency
  • narrow forehead
  • ptosis
  • 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
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • larynx/laryngeal stenosis/atresia
  • 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
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • sleep and vigilance disorders
  • 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
  • glaucoma
  • coloboma of iris
  • 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
  • supernumerary teeth/polyodontia
  • anodontia/oligodontia/hypodontia
  • 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
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • oligodactyly/ectrodactyly of fingers
  • ulnar deviation of fingers
  • talipes-varus/metatarsal varus
  • decreased hair pigmentation/hypopigmentation of hair
  • gastric/pyloric stenosis
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • gallbladder/common bile duct anomalies
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • diaphragmatic hernia/defect/agenesis
  • patent ductus arteriosus
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • 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

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

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

Sources:
33MalaCards
See all sources

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

33
Whole blood, Spleen, Brain, Retina, Heart, Skeletal muscle, Kidney, Liver, Lung, Skin, Ovary, Monocytes, T cells, B cells, Fetal brain, Fetal liver, Fetal lung, Pituitary

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7DHCR7, NSDHL, KIF7
2MP:00036318.2FDFT1, SHH, APOE, NSDHL, SMO, DHCR7
3MP:00053787.7LDLR, DHCR7, CYP11A1, EBP, SHH, STAR
4MP:00053767.7CYP27A1, LDLR, KIF7, DHCR7, SMO, NSDHL
5MP:00107687.6SMO, KIF7, DHCR7, CYP11A1, EBP, FDFT1

Publications for Smith-Lemli-Opitz Syndrome

Sources:
51PubMed
See all sources

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 430)
idTitleAuthorsYear
1
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
2
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. (23022980)
2013
3
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. (23859856)
2013
4
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. (23541496)
2013
5
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). (23595802)
2013
6
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. (23361583)
2013
7
Smith-Lemli-Opitz syndrome among Arabs. (21696385)
2012
8
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. (22391996)
2012
9
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. (23042573)
2012
10
The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote. (23059855)
2012
11
Adrenal function in Smith-Lemli-Opitz syndrome. (21990131)
2011
12
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. (20670678)
2010
13
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. (19101685)
2009
14
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. (18381059)
2008
15
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. (16360150)
2006
16
Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. (16702508)
2006
17
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (16392899)
2005
18
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? (15965973)
2005
19
Smith-Lemli-Opitz syndrome]. (16327658)
2005
20
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (15979035)
2005
21
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. (15952211)
2005
22
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. (15464432)
2004
23
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. (15480380)
2004
24
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. (15319461)
2004
25
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. (14659996)
2003
26
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. (12887150)
2003
27
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (12476463)
2003
28
Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions. (11942534)
2002
29
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). (12477489)
2002
30
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. (11483057)
2001
31
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (11427181)
2001
32
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. (10833186)
2000
33
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. (10946022)
2000
34
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. (11001807)
2000
35
Anesthetic considerations in Smith-Lemli-Opitz syndrome. (10875719)
2000
36
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. (10411425)
1999
37
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. (10439827)
1999
38
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (9678700)
1998
39
Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. (9225842)
1997
40
Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. (8766772)
1996
41
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. (8887136)
1996
42
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. (8559757)
1995
43
Gonadal function in Smith-Lemli-Opitz syndrome. (8418647)
1993
44
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? (2395167)
1990
45
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. (2729358)
1989
46
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. (3712395)
1986
47
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. (6858679)
1983
48
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. (862305)
1977
49
The Smith-Lemli-Opitz syndrome. (5096180)
1971
50
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA. (14303408)
1965

Genetic Variations for Smith-Lemli-Opitz Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Smith-Lemli-Opitz Syndrome:

63 (show all 53)
id Symbol AA change Variation 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

Sources:
1BioGPS, 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

Sources:
50PharmGKB, 54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Smith-Lemli-Opitz Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1estrogen4510.2SRD5A1
2lanosterol45 1111.2HMGCR, FDFT1, EBP
3u18666a4510.1LDLR, HMGCR, EBP
424s-hydroxy-cholesterol4510.1HMGCR, CYP27A1, APOE
5monobutyl phthalate4510.0CYP11A1, STAR
6cholestyramine4510.0APOE, HMGCR, LDLR
77-dehydrocholesterol45 2410.9CYP11A1, CYP27A1, DHCR7, FDFT1, HMGCR
87-ketocholesterol45 2410.9CYP27A1, HMGCR, APOE
9cholesterol ester459.9APOE, HMGCR, LDLR, FDFT1
1022r-hydroxycholesterol45 2910.8LDLR, CYP11A1, APOE, STAR
11squalene45 2410.8LDLR, SCAP, FDFT1, DHCR7, HMGCR
12zaragozic acid a45 2910.8FDFT1, HMGCR
1327-hydroxycholesterol45 2910.8STAR, LDLR, HMGCR, CYP27A1, CYP11A1
14chenodeoxycholic acid45 29 11 2412.8CYP27A1, DHRS9, HMGCR, LDLR
15lathosterol45 2410.7LDLR, HMGCR, NSDHL, APOE, EBP
16probucol45 1110.7LDLR, APOE, HMGCR
17pravastatin45 50 29 11 2413.6FDFT1, SCAP, APOE, HMGCR, LDLR
18androstenol459.6SRD5A1, DHRS9, HSD3BP4
195,16-androstadien-3beta-ol459.6DHRS9, SRD5A1, HSD3BP4
20hydroxysteroid459.6CYP11A1, DHRS9, SRD5A1, STS
21doca459.6CYP11A1, SRD5A1, HSD3BP4
2225-hydroxycholesterol45 29 2411.6HMGCR, CYP11A1, SCAP, LDLR, HSD3BP4
23androstanedione45 11 2411.5DHRS9, HSD3BP4, SRD5A1
24lovastatin45 50 60 29 1113.5DHCR7, HMGCR, LDLR, SCAP, APOE, FDFT1
25dehydroepiandrosterone sulfate459.5CYP11A1, SRD5A1, STS, HSD3BP4
26ketoconazole45 29 11 2412.5HSD3BP4, CYP11A1, HMGCR, SRD5A1
273alpha-hydroxysteroid459.4SRD5A1, DHRS9, HSD3BP4
28dihydroprogesterone459.4CYP11A1, HSD3BP4, SRD5A1, DHRS9
29steroidal459.4SRD5A1, STS, HSD3BP4, DHRS9
30alpha tocopherol459.4APOE, CYP11A1, HMGCR, LDLR
3111beta-hydroxysteroid459.4DHRS9, HSD3BP4, SRD5A1, CYP11A1
32dhea459.3CYP11A1, HSD3BP4, STAR, STS, SRD5A1
33nadph45 2410.3DHCR7, FDFT1, HMGCR, CYP11A1, DHRS9, CYP27A1
34progestin459.3CYP11A1, HSD3BP4, STS, STAR, SRD5A1
35simvastatin45 50 60 29 11 2414.3HMGCR, FDFT1, SCAP, LDLR, CYP27A1, APOE
36androstenedione45 2410.3SRD5A1, CYP11A1, STAR, HSD3BP4
375alpha-androstane-3alpha,17beta-diol459.2HSD3BP4, SRD5A1, HSD17B6, DHRS9
38nadh45 11 2411.1NSDHL, HSD17B6, HSD3BP4, HMGCR, DHCR7, DHRS9
39dihydrotestosterone45 29 11 2412.1CYP11A1, HSD17B6, SRD5A1, STS, DHRS9
40estrone45 29 11 2412.1HSD17B6, SRD5A1, STS, HSD3BP4
4117beta-hydroxysteroid459.0HSD3BP4, STAR, CYP11A1, SRD5A1, DHRS9, STS
42dexamethasone45 50 29 1111.6CYP27A1, CYP11A1, STAR, LDLR, HMGCR, SRD5A1
43estradiol45 11 2410.6STS, CYP11A1, CGB7, STAR, HSD3BP4, HSD17B6
44steroid458.6STAR, DHCR7, DHRS9, CYP27A1, SRD5A1, STS
45lipid458.6LDLR, CYP27A1, STAR, NSDHL, APOE, SCAP
46progesterone45 60 29 11 2412.5HSD3BP4, STAR, DHRS9, CYP11A1, SRD5A1, CGB7
47sterol458.5LDLR, HMGCR, DHCR7, CYP27A1, EBP, APOE
483beta-hydroxysteroid458.4NSDHL, STAR, STS, FDFT1, EBP, CYP11A1
49testosterone45 60 11 2410.4HSD17B6, HSD3BP4, APOE, SCAP, STAR, STS
50cholesterol45 29 11 2410.4HMGCR, HSD3BP4, NSDHL, LDLR, DHCR7, DHRS9

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Smith-Lemli-Opitz Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet