SLOS
MCID: SMT004
MIFTS: 84

Smith-Lemli-Opitz Syndrome (SLOS) malady

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

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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 based summary: Smith-Lemli-Opitz Syndrome, also known as 7-dehydrocholesterol reductase deficiency, is related to cerebrotendinous xanthomatosis and down 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 Folate Metabolism. The compounds u18666a and 7-dehydrocholesterol have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related mouse phenotypes are liver/biliary system and muscle.

NIH Rare Diseases:42 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:65 Smith?Lemli?Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error... 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, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Smith-Lemli-Opitz Syndrome, Aliases & Descriptions:

Name: Smith-Lemli-Opitz Syndrome 8 9 65 19 42 21 46 10 44 48 62
7-Dehydrocholesterol Reductase Deficiency 42 21 48 62
Rsh Syndrome 19 42 21 48
Slos 19 42 21 48
Rutledge Lethal Multiple Congenital Anomaly Syndrome 8 42 62
Smith Lemli Opitz Syndrome 42 20 22
 
Slo Syndrome 19 42 21
Smith-Opitz-Inborn Syndrome 8 62
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 42
Smith-Lemli-Opitz Syndrome, Type Ii 62
Lethal Acrodysgenital Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14692
OMIM46 270400
NCIt39 C85071
MeSH34 D019082
SNOMED-CT57 43929004
MESH via Orphanet35 D019082
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0175694, C2713347

Related Diseases for Smith-Lemli-Opitz Syndrome

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis31.4CYP27A1
2down syndrome30.6APOE, STS, CGB7
3hyperlipidemia type 330.6APOE, LDLR, HMGCR
4xanthomatosis30.4LDLR, APOE, ABCA1
5retinitis10.8
6retinal degeneration10.7
7cataract10.7
8renal hypoplasia10.6
9hypertension10.6
10polydactyly10.6
11malignant hyperthermia10.6
12autism spectrum disorder10.6
13mental retardation10.6
14sitosterolemia10.6HMGCR
15lipoid adrenal hyperplasia10.5STAR
16hepatitis10.4
17holoprosencephaly10.4
18pulmonary hypertension10.4
19renal agenesis10.4
20rubinstein-taybi syndrome10.4
21pallister-hall syndrome10.4
22achalasia10.4
23meckel syndrome10.4
24hydrolethalus syndrome10.4
25neuronitis10.4
26germinoma10.4
27mucolipidosis10.4
28cerebritis10.4
29cholestasis10.4
30congenital heart disease10.4
31conjunctivitis10.4
32hypothyroidism10.4
33polyneuropathy10.4
34pseudohermaphroditism10.4
35developmental disabilities10.4
36dwarfism10.4
375-alpha reductase deficiency10.4
38annular pancreas10.4
39chondrodysplasia10.4
40faces syndrome10.4
41hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.4
42lathosterolosis10.4
43miller-dieker syndrome10.4
44precocious puberty10.4
45germ cell tumors10.4
46mixed germ cell tumor10.4
47renal dysplasia10.4
48chondrodysplasia punctata syndrome10.4EBP, STS
49children's interstitial lung disease10.4EBP, NSDHL
50congenital adrenal insufficiency10.3CYP11A1, 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

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Symptoms by clinical synopsis from OMIM:

270400

Clinical features from OMIM:

270400

Symptoms:

48 (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

HPO human phenotypes related to Smith-Lemli-Opitz Syndrome:

(show all 188)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 micrognathia hallmark (90%) HP:0000347
3 anteverted nares hallmark (90%) HP:0000463
4 muscular hypotonia hallmark (90%) HP:0001252
5 toe syndactyly hallmark (90%) HP:0001770
6 abnormality of lipid metabolism hallmark (90%) HP:0003119
7 short stature hallmark (90%) HP:0004322
8 abnormality of dental morphology hallmark (90%) HP:0006482
9 abnormal dermatoglyphics hallmark (90%) HP:0007477
10 increased nuchal translucency hallmark (90%) HP:0010880
11 cryptorchidism typical (50%) HP:0000028
12 abnormality of female external genitalia typical (50%) HP:0000055
13 ambiguous genitalia typical (50%) HP:0000062
14 wide mouth typical (50%) HP:0000154
15 cleft palate typical (50%) HP:0000175
16 gingival overgrowth typical (50%) HP:0000212
17 narrow forehead typical (50%) HP:0000341
18 long philtrum typical (50%) HP:0000343
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 short neck typical (50%) HP:0000470
21 ptosis typical (50%) HP:0000508
22 autism typical (50%) HP:0000717
23 cutis marmorata typical (50%) HP:0000965
24 cutaneous photosensitivity typical (50%) HP:0000992
25 postaxial hand polydactyly typical (50%) HP:0001162
26 abnormality of the metacarpal bones typical (50%) HP:0001163
27 intrauterine growth retardation typical (50%) HP:0001511
28 polyhydramnios typical (50%) HP:0001561
29 abnormality of the larynx typical (50%) HP:0001600
30 ventricular septal defect typical (50%) HP:0001629
31 defect in the atrial septum typical (50%) HP:0001631
32 complete atrioventricular canal defect typical (50%) HP:0001674
33 postaxial foot polydactyly typical (50%) HP:0001830
34 abnormal lung lobation typical (50%) HP:0002101
35 ventriculomegaly typical (50%) HP:0002119
36 sleep disturbance typical (50%) HP:0002360
37 tracheal stenosis typical (50%) HP:0002777
38 abnormality of the hip bone typical (50%) HP:0003272
39 reduced consciousness/confusion typical (50%) HP:0004372
40 abnormality of the nipple typical (50%) HP:0004404
41 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
42 attention deficit hyperactivity disorder typical (50%) HP:0007018
43 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
44 hypoplasia of penis typical (50%) HP:0008736
45 proximal placement of thumb typical (50%) HP:0009623
46 abnormality of immune system physiology typical (50%) HP:0010978
47 displacement of the external urethral meatus typical (50%) HP:0100627
48 self-injurious behavior typical (50%) HP:0100716
49 multicystic kidney dysplasia occasional (7.5%) HP:0000003
50 abnormality of the ureter occasional (7.5%) HP:0000069
51 epicanthus occasional (7.5%) HP:0000286
52 hypertelorism occasional (7.5%) HP:0000316
53 sensorineural hearing impairment occasional (7.5%) HP:0000407
54 choanal atresia occasional (7.5%) HP:0000453
55 strabismus occasional (7.5%) HP:0000486
56 downslanted palpebral fissures occasional (7.5%) HP:0000494
57 abnormality of the eyelashes occasional (7.5%) HP:0000499
58 glaucoma occasional (7.5%) HP:0000501
59 cataract occasional (7.5%) HP:0000518
60 proptosis occasional (7.5%) HP:0000520
61 upslanted palpebral fissure occasional (7.5%) HP:0000582
62 iris coloboma occasional (7.5%) HP:0000612
63 nystagmus occasional (7.5%) HP:0000639
64 sclerocornea occasional (7.5%) HP:0000647
65 optic atrophy occasional (7.5%) HP:0000648
66 abnormality of dental enamel occasional (7.5%) HP:0000682
67 abnormality of the ribs occasional (7.5%) HP:0000772
68 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
69 brachydactyly syndrome occasional (7.5%) HP:0001156
70 split hand occasional (7.5%) HP:0001171
71 seizures occasional (7.5%) HP:0001250
72 hypertonia occasional (7.5%) HP:0001276
73 holoprosencephaly occasional (7.5%) HP:0001360
74 patent ductus arteriosus occasional (7.5%) HP:0001643
75 abnormality of the spleen occasional (7.5%) HP:0001743
76 talipes occasional (7.5%) HP:0001883
77 pyloric stenosis occasional (7.5%) HP:0002021
78 aganglionic megacolon occasional (7.5%) HP:0002251
79 scoliosis occasional (7.5%) HP:0002650
80 kyphosis occasional (7.5%) HP:0002808
81 micromelia occasional (7.5%) HP:0002983
82 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
83 abnormality of the gallbladder occasional (7.5%) HP:0005264
84 hypopigmentation of hair occasional (7.5%) HP:0005599
85 finger syndactyly occasional (7.5%) HP:0006101
86 advanced eruption of teeth occasional (7.5%) HP:0006288
87 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
88 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
89 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
90 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
91 ulnar deviation of finger occasional (7.5%) HP:0009465
92 reduced number of teeth occasional (7.5%) HP:0009804
93 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
94 bifid tongue occasional (7.5%) HP:0010297
95 increased number of teeth occasional (7.5%) HP:0011069
96 abnormal localization of kidney occasional (7.5%) HP:0100542
97 autosomal recessive inheritance HP:0000007
98 cryptorchidism HP:0000028
99 scrotal hypoplasia HP:0000046
100 hypospadias HP:0000047
101 bifid scrotum HP:0000048
102 micropenis HP:0000054
103 ambiguous genitalia HP:0000062
104 ureteropelvic junction obstruction HP:0000074
105 renal hypoplasia HP:0000089
106 renal agenesis HP:0000104
107 renal cyst HP:0000107
108 hydronephrosis HP:0000126
109 microglossia HP:0000171
110 cleft palate HP:0000175
111 broad alveolar ridges HP:0000187
112 hydrocephalus HP:0000238
113 microcephaly HP:0000252
114 epicanthus HP:0000286
115 hypertelorism HP:0000316
116 narrow forehead HP:0000341
117 long philtrum HP:0000343
118 micrognathia HP:0000347
119 posteriorly rotated ears HP:0000358
120 hearing impairment HP:0000365
121 low-set ears HP:0000369
122 recurrent otitis media HP:0000403
123 wide nasal bridge HP:0000431
124 anteverted nares HP:0000463
125 strabismus HP:0000486
126 ptosis HP:0000508
127 cataract HP:0000518
128 nystagmus HP:0000639
129 dental crowding HP:0000678
130 autism HP:0000717
131 aggressive behavior HP:0000718
132 self-mutilation HP:0000742
133 hyperactivity HP:0000752
134 bicornuate uterus HP:0000813
135 precocious puberty HP:0000826
136 eczema HP:0000964
137 facial capillary hemangioma HP:0000996
138 septate vagina HP:0001153
139 postaxial hand polydactyly HP:0001162
140 intellectual disability HP:0001249
141 seizures HP:0001250
142 hypertonia HP:0001276
143 generalized hypotonia HP:0001290
144 dandy-walker malformation HP:0001305
145 holoprosencephaly HP:0001360
146 failure to thrive HP:0001508
147 intrauterine growth retardation HP:0001511
148 decreased fetal movement HP:0001558
149 premature birth HP:0001622
150 breech presentation HP:0001623
151 ventricular septal defect HP:0001629
152 defect in the atrial septum HP:0001631
153 patent ductus arteriosus HP:0001643
154 coarctation of aorta HP:0001680
155 hammertoe HP:0001765
156 postaxial foot polydactyly HP:0001830
157 short toe HP:0001831
158 metatarsus adductus HP:0001840
159 overlapping toe HP:0001845
160 talipes calcaneovalgus HP:0001884
161 vomiting HP:0002013
162 constipation HP:0002019
163 gastroesophageal reflux HP:0002020
164 pyloric stenosis HP:0002021
165 poor suck HP:0002033
166 hypoplasia of the corpus callosum HP:0002079
167 pulmonary hypoplasia HP:0002089
168 abnormal lung lobation HP:0002101
169 aganglionic megacolon HP:0002251
170 intestinal malrotation HP:0002566
171 gastrointestinal dysmotility HP:0002579
172 cholestatic liver disease HP:0002611
173 hip dislocation HP:0002827
174 micromelia HP:0002983
175 hypocholesterolemia HP:0003146
176 short stature HP:0004322
177 2-3 toe syndactyly HP:0004691
178 depressed nasal bridge HP:0005280
179 depressed nasal bridge HP:0005280
180 sleep-wake cycle disturbance HP:0006979
181 periventricular gray matter heterotopia HP:0007165
182 hypoplasia of the frontal lobes HP:0007333
183 severe photosensitivity HP:0007537
184 proximal placement of thumb HP:0009623
185 short thumb HP:0009778
186 elevated 7-dehydrocholesterol HP:0010569
187 elevated 7-dehydrocholesterol HP:0010569
188 epiphyseal stippling HP:0010655

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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

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

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

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Publications for Smith-Lemli-Opitz Syndrome

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Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 428)
idTitleAuthorsYear
1
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. (23896203)
2014
2
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? (25191210)
2014
3
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
4
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
5
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (23321614)
2013
6
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. (23042642)
2012
7
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. (22438180)
2012
8
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. (21402677)
2011
9
Smith-Lemli-Opitz syndrome. (21777499)
2011
10
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. (21626671)
2011
11
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. (20804844)
2010
12
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. (20238050)
2010
13
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. (18381059)
2008
14
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. (18776754)
2008
15
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. (18556335)
2008
16
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. (16199034)
2006
17
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (14981719)
2004
18
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. (15464432)
2004
19
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. (14594996)
2004
20
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. (15005800)
2004
21
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. (14659996)
2003
22
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
23
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. (12364550)
2002
24
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (11298379)
2001
25
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (11471166)
2001
26
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. (11483057)
2001
27
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. (11505445)
2001
28
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. (11074502)
2000
29
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (10677299)
2000
30
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. (10564872)
1999
31
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. (10069708)
1999
32
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. (10411425)
1999
33
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
34
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. (10327249)
1999
35
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. (9714007)
1998
36
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. (9523845)
1998
37
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. (8990234)
1997
38
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. (9061771)
1997
39
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. (10829981)
1996
40
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
41
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. (8884563)
1996
42
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. (8533850)
1995
43
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. (7706951)
1995
44
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. (7762564)
1995
45
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. (7778589)
1995
46
Smith-Lemli-Opitz syndrome in siblings. (1389317)
1992
47
Smith-Lemli-Opitz syndrome. (3425638)
1987
48
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. (3611634)
1987
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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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:

6 (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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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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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 Metabolism37
9.8APOE, ABCA1
39.6HMGCR, LDLR, ABCA1
49.6CYP11A1, LDLR, STAR
59.6STAR, APOE, CYP11A1
6
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
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 biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
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

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

(show top 50)    (show all 131)
idCompoundScoreTop Affiliating Genes
1u18666a449.8LDLR, HMGCR, EBP
27-dehydrocholesterol44 2410.8HMGCR, CYP27A1, CYP11A1, FDFT1, DHCR7
324s-hydroxy-cholesterol449.8HMGCR, APOE, CYP27A1, ABCA1
4farnesyl diphosphate44 28 1111.7LDLR, ABCA1, HMGCR, FDFT1
53-hydroxy-3-methylglutaryl-coa44 2410.7LDLR, ABCA1, FDFT1, HMGCR
6beta sitosterol449.7ABCA1, SRD5A1, HMGCR
7squalene44 2410.6HMGCR, DHCR7, LDLR, FDFT1, SCAP
8probucol44 1110.6ABCA1, APOE, LDLR, HMGCR
9bezafibrate44 28 1111.5LDLR, HMGCR, APOE, ABCA1
10lathosterol44 2410.5APOE, HMGCR, LDLR, NSDHL, EBP
11cholesterol ester449.4APOE, HMGCR, ABCA1, FDFT1, LDLR
1222r-hydroxycholesterol44 2810.3CYP11A1, ABCA1, STAR, LDLR, APOE
13alpha tocopherol449.3CYP11A1, APOE, LDLR, HMGCR, ABCA1
14mevalonate449.3FDFT1, LDLR, HMGCR, ABCA1
1527-hydroxycholesterol44 2810.3HMGCR, STAR, CYP11A1, CYP27A1, ABCA1, LDLR
16lovastatin44 50 61 28 1113.3HMGCR, DHCR7, LDLR, APOE, SCAP, FDFT1
17fenofibrate44 50 1111.2ABCA1, HMGCR, LDLR, APOE
18hydroxysteroid449.2STS, SRD5A1, DHRS9, CYP11A1
19chenodeoxycholic acid44 28 24 1112.2DHRS9, LDLR, HMGCR, CYP27A1
20ketoconazole44 28 24 1112.2CYP11A1, HSD3BP4, SRD5A1, HMGCR
21NADP249.1CYP27A1, FDFT1, HMGCR, NSDHL, DHRS9, DHCR7
22androstenol449.1HSD3BP4, SRD5A1, DHRS9
23pravastatin44 50 28 24 1113.1HMGCR, ABCA1, SCAP, APOE, FDFT1, LDLR
245,16-androstadien-3beta-ol449.1DHRS9, HSD3BP4, SRD5A1
25dehydroepiandrosterone sulfate449.1STS, CYP11A1, SRD5A1, HSD3BP4
26atorvastatin44 50 28 24 1113.1ABCA1, SCAP, APOE, FDFT1, LDLR, HMGCR
27progestin449.0HSD3BP4, SRD5A1, STAR, STS, CYP11A1
28prostacyclin449.0CYP27A1, APOE, HMGCR, KCNMA1, LDLR
2925-hydroxycholesterol44 28 2411.0HSD3BP4, SCAP, LDLR, HMGCR, ABCA1, CYP11A1
30dihydroprogesterone448.9CYP11A1, SRD5A1, DHRS9, HSD3BP4
31phosphatidylcholine448.9LDLR, APOE, ABCA1, STAR, CYP11A1
32steroidal448.9SRD5A1, HSD3BP4, DHRS9, STS
3311beta-hydroxysteroid448.8HSD3BP4, SRD5A1, DHRS9, CYP11A1
34phospholipid448.8STAR, APOE, LDLR, KCNMA1, CYP11A1, ABCA1
35simvastatin44 50 61 28 24 1113.7FDFT1, DHCR7, HMGCR, APOE, SCAP, CYP27A1
36dhea448.7KCNMA1, SRD5A1, CYP11A1, STS, HSD3BP4, STAR
37androstanedione44 24 1110.5HSD3BP4, DHRS9, SRD5A1
38nadph44 249.5DHRS9, DHCR7, HMGCR, NSDHL, FDFT1, KCNMA1
3917beta-hydroxysteroid448.5CYP11A1, SRD5A1, STS, STAR, HSD3BP4, DHRS9
40estradiol44 24 1110.2CYP11A1, KCNMA1, HSD3BP4, STS, SRD5A1, CGB7
41dexamethasone44 50 28 1111.1SRD5A1, STAR, CYP27A1, LDLR, HSD3BP4, CYP11A1
423beta-hydroxysteroid447.8DHRS9, SRD5A1, STS, STAR, NSDHL, FDFT1
43sterol447.7ABCA1, DHCR7, STAR, STS, EBP, CYP27A1
44retinoic acid44 248.7CYP27A1, CYP11A1, DHRS9, STS, SRD5A1, CGB7
45progesterone44 28 61 24 1111.6CGB7, SRD5A1, STAR, DHRS9, STS, HSD3BP4
46steroid447.6DHCR7, CYP27A1, CYP11A1, STAR, STS, SRD5A1
47lipid447.5CYP11A1, STS, STAR, LDLR, NSDHL, FDFT1
48estrogen447.3DHRS9, SRD5A1, STS, CYP11A1, LDLR, APOE
49testosterone44 61 24 119.7STS, CGB7, SRD5A1, STAR, DHRS9, APOE
50cholesterol44 28 24 118.7SHH, KCNMA1, CYP11A1, CYP27A1, ABCA1, HSD3BP4

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/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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet