MCID: SMT004
MIFTS: 66

Smith-Lemli-Opitz Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Respiratory diseases

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 50 11 69 22 46 23 24 13 52 68 12 48 37 66
Rsh Syndrome 22 46 23 24 52 68
Slos 22 46 23 24 52 68
Slo Syndrome 22 46 23 24 68
7-Dehydrocholesterol Reductase Deficiency 46 24 52 66
Rutledge Lethal Multiple Congenital Anomaly Syndrome 11 46 68
 
Smith Lemli Opitz Syndrome 46 23 25
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 46
Smith-Lemli-Opitz Syndrome, Type Ii 66
Lethal Acrodysgenital Syndrome 46
Smith-Opitz-Inborn Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
smith-lemli-opitz syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
smith-lemli-opitz syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 270400
Disease Ontology11 DOID:14692
ICD1028 E78.72
MeSH37 D019082
NCIt43 C85071
SNOMED-CT60 43929004
Orphanet52 ORPHA818
UMLS via Orphanet67 C2713347, C0175694
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 D019082

Summaries for Smith-Lemli-Opitz Syndrome

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OMIM:50 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome.... (270400) more...

MalaCards based summary: Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to polyneuropathy and cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome, and has symptoms including microcephaly, micrognathia and anteverted nares. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and Folate Metabolism. Affiliated tissues include lung, kidney and heart, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Genetics Home Reference:24 Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Smith-Lemli-Opitz syndrome: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

Wikipedia:69 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn... more...

GeneReviews summary for NBK1143

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 Suite gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1polyneuropathy30.7ABCA1, APOE
2cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome12.5
3sost-related sclerosing bone dysplasia11.5
4retinitis10.7
5retinal degeneration10.6
6cataract10.5
7hypercholesterolemia, due to ligand-defective apo b10.5APOE, LDLR
8greenberg skeletal dysplasia10.5
9hyperlipidemia type 310.5
10alzheimer disease 19, late onset10.5APOE, LDLR
11autism spectrum disorder10.5
12polydactyly10.5
13neuronitis10.5
14malignant hyperthermia10.5
15retinal arteries, tortuosity of10.4APOE, HMGCR
16bladder diverticulum10.4APOE, LDLR
17inflamed seborrheic keratosis10.3APOE, LDLR
18cerebrotendinous xanthomatosis10.3
19pallister-hall syndrome10.3
20lathosterolosis10.3
21hydrolethalus syndrome10.3
22rubinstein-taybi syndrome10.3
23pulmonary hypertension10.3
24hepatitis10.3
25holoprosencephaly10.3
26sclerocornea10.3
27heart disease10.3
28cholestasis10.3
29down syndrome10.3
30hypothyroidism10.3
31congenital heart disease10.3
32xanthomatosis10.3
33cerebritis10.3
34pseudohermaphroditism10.3
35conjunctivitis10.3
36achalasia10.3
37birth defects10.3
38dwarfism10.3
395-alpha reductase deficiency10.3
40precocious puberty10.3
41mixed germ cell tumor10.3
42renal dysplasia10.3
43hypobetalipoproteinemia10.3APOE, LDLR
44cold-induced sweating syndrome10.2SHH, STS
45degos 'en cocarde' erythrokeratoderma10.2APOE, HMGCR, LDLR
46rubinstein taybi like syndrome10.2APOE, HMGCR, LDLR
47islet cell tumor10.1ABCA1, APOE
48sitosterolemia10.0FDFT1, HMGCR
49macular holes10.0
50elephantiasis10.0KCNMA1, SHH

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:

 52 (show all 106)
  • multicystic kidney dysplasia
  • cryptorchidism
  • hypospadias
  • clitoromegaly
  • ambiguous genitalia
  • ureteropelvic junction obstruction
  • hydronephrosis
  • wide mouth
  • microglossia
  • cleft palate
  • gingival overgrowth
  • microcephaly
  • epicanthus
  • hypertelorism
  • long philtrum
  • micrognathia
  • low-set, posteriorly rotated ears
  • sensorineural hearing impairment
  • wide nasal bridge
  • choanal atresia
  • anteverted nares
  • short neck
  • strabismus
  • downslanted palpebral fissures
  • abnormality of the eyelashes
  • glaucoma
  • ptosis
  • cataract
  • proptosis
  • upslanted palpebral fissure
  • iris coloboma
  • nystagmus
  • sclerocornea
  • optic atrophy
  • abnormality of dental enamel
  • autism
  • abnormality of the ribs
  • congenital diaphragmatic hernia
  • cutis marmorata
  • cutaneous photosensitivity
  • facial capillary hemangioma
  • brachydactyly syndrome
  • postaxial hand polydactyly
  • abnormality of the metacarpal bones
  • split hand
  • intellectual disability
  • seizures
  • muscular hypotonia
  • somnolence
  • global developmental delay
  • hypertonia
  • holoprosencephaly
  • growth delay
  • intrauterine growth retardation
  • gastroschisis
  • polyhydramnios
  • abnormality of the larynx
  • ventricular septal defect
  • defect in the atrial septum
  • patent ductus arteriosus
  • postaxial foot polydactyly
  • talipes calcaneovalgus
  • gastroesophageal reflux
  • pyloric stenosis
  • pulmonary hypoplasia
  • abnormal lung lobation
  • ventriculomegaly
  • aganglionic megacolon
  • sleep disturbance
  • malformation of the heart and great vessels
  • scoliosis
  • recurrent infections
  • tracheal stenosis
  • kyphosis
  • hip dislocation
  • mesomelia
  • abnormal form of the vertebral bodies
  • short stature
  • biparietal narrowing
  • 2-3 toe syndactyly
  • abnormality of the gallbladder
  • hypopigmentation of hair
  • finger syndactyly
  • advanced eruption of teeth
  • abnormality of dental morphology
  • aplasia/hypoplasia of the radius
  • wide intermamillary distance
  • atrioventricular canal defect
  • attention deficit hyperactivity disorder
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • abnormal dermatoglyphics
  • aplasia/hypoplasia affecting the eye
  • renal hypoplasia/aplasia
  • hypoplasia of penis
  • feeding difficulties in infancy
  • rhizomelia
  • ulnar deviation of finger
  • proximal placement of thumb
  • reduced number of teeth
  • bifid tongue
  • elevated 7-dehydrocholesterol
  • increased nuchal translucency
  • increased number of teeth
  • abnormal localization of kidney
  • self-injurious behavior

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

(show all 186)
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 atria septal defect 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 cryptorchidism HP:0000028
98 scrotal hypoplasia HP:0000046
99 hypospadias HP:0000047
100 bifid scrotum HP:0000048
101 micropenis HP:0000054
102 ambiguous genitalia HP:0000062
103 ureteropelvic junction obstruction HP:0000074
104 renal hypoplasia HP:0000089
105 renal agenesis HP:0000104
106 renal cyst HP:0000107
107 hydronephrosis HP:0000126
108 microglossia HP:0000171
109 cleft palate HP:0000175
110 broad alveolar ridges HP:0000187
111 hydrocephalus HP:0000238
112 microcephaly HP:0000252
113 epicanthus HP:0000286
114 hypertelorism HP:0000316
115 narrow forehead HP:0000341
116 long philtrum HP:0000343
117 micrognathia HP:0000347
118 posteriorly rotated ears HP:0000358
119 hearing impairment HP:0000365
120 low-set ears HP:0000369
121 recurrent otitis media HP:0000403
122 wide nasal bridge HP:0000431
123 anteverted nares HP:0000463
124 strabismus HP:0000486
125 ptosis HP:0000508
126 cataract HP:0000518
127 nystagmus HP:0000639
128 dental crowding HP:0000678
129 autism HP:0000717
130 aggressive behavior HP:0000718
131 self-mutilation HP:0000742
132 hyperactivity HP:0000752
133 bicornuate uterus HP:0000813
134 precocious puberty HP:0000826
135 eczema HP:0000964
136 facial capillary hemangioma HP:0000996
137 septate vagina HP:0001153
138 postaxial hand polydactyly HP:0001162
139 intellectual disability HP:0001249
140 seizures HP:0001250
141 hypertonia HP:0001276
142 generalized hypotonia HP:0001290
143 dandy-walker malformation HP:0001305
144 holoprosencephaly HP:0001360
145 failure to thrive HP:0001508
146 intrauterine growth retardation HP:0001511
147 decreased fetal movement HP:0001558
148 premature birth HP:0001622
149 breech presentation HP:0001623
150 ventricular septal defect HP:0001629
151 atria septal defect HP:0001631
152 patent ductus arteriosus HP:0001643
153 coarctation of aorta HP:0001680
154 hammertoe HP:0001765
155 postaxial foot polydactyly HP:0001830
156 short toe HP:0001831
157 metatarsus adductus HP:0001840
158 overlapping toe HP:0001845
159 talipes calcaneovalgus HP:0001884
160 vomiting HP:0002013
161 constipation HP:0002019
162 gastroesophageal reflux HP:0002020
163 pyloric stenosis HP:0002021
164 poor suck HP:0002033
165 hypoplasia of the corpus callosum HP:0002079
166 pulmonary hypoplasia HP:0002089
167 abnormal lung lobation HP:0002101
168 aganglionic megacolon HP:0002251
169 intestinal malrotation HP:0002566
170 gastrointestinal dysmotility HP:0002579
171 cholestatic liver disease HP:0002611
172 hip dislocation HP:0002827
173 micromelia HP:0002983
174 hypocholesterolemia HP:0003146
175 short stature HP:0004322
176 2-3 toe syndactyly HP:0004691
177 depressed nasal bridge HP:0005280
178 sleep-wake cycle disturbance HP:0006979
179 periventricular gray matter heterotopia HP:0007165
180 hypoplasia of the frontal lobes HP:0007333
181 severe photosensitivity HP:0007537
182 proximal placement of thumb HP:0009623
183 short thumb HP:0009778
184 elevated 7-dehydrocholesterol HP:0010569
185 epiphyseal stippling HP:0010655
186 hip subluxation HP:0030043

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


constipation, seizures, vomiting

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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Drugs for Smith-Lemli-Opitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocainePhase 1, Phase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
2
SimvastatinPhase 250379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
3tannic acidNutraceuticalPhase 1, Phase 21794

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00114634Phase 2
2Treatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeCompletedNCT00272844Phase 1, Phase 2
3Simvastatin Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00064792Phase 2
4Prenatal Screening For Smith-Lemli-Opitz SyndromeCompletedNCT00070850Phase 2
5Cholesterol in ASD: Characterization and TreatmentCompletedNCT00965068Phase 1, Phase 2
6Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz SyndromeRecruitingNCT00004347Phase 2
7Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2
8Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African AmericansCompletedNCT00017732
9Study of Smith-Lemli-Opitz SyndromeRecruitingNCT00001721
10Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz SyndromeRecruitingNCT01356420
11Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
12SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol SupplementationRecruitingNCT01434745
13Study of Inborn Errors of Cholesterol Synthesis and Related DisordersRecruitingNCT00046202
14A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz SyndromeWithdrawnNCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome


Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

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Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome25 23 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

34
Lung, Kidney, Heart, Bone, Eye, Tongue, Skin

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

About this section

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

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4ABCA1, APOE, DHCR7, KCNMA1, SHH
2MP:00053708.4ABCA1, APOE, DHCR7, HMGCR, LDLR
3MP:00053898.3ABCA1, APOE, CYP11A1, FDFT1, KCNMA1, SHH
4MP:00053817.9ABCA1, APOE, DHCR7, KCNMA1, LDLR, SHH
5MP:00053697.5ABCA1, APOE, CYP11A1, DHCR7, KCNMA1, LDLR
6MP:00053867.4APOE, CYP11A1, DHCR7, FDFT1, KCNMA1, LDLR
7MP:00036316.9ABCA1, APOE, CYP11A1, DHCR7, FDFT1, KCNMA1
8MP:00107686.6ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR
9MP:00053786.2ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR

Publications for Smith-Lemli-Opitz Syndrome

About this section

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 448)
idTitleAuthorsYear
1
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/I^-catenin defects in neuronal cholesterol synthesis phenotypes. (26998835)
2016
2
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. (26492708)
2015
3
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. (25024934)
2014
4
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. (24296449)
2013
5
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
6
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. (23321614)
2013
7
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? (24533230)
2013
8
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. (23979708)
2013
9
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. (23022980)
2013
10
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. (23042642)
2012
11
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. (23293579)
2012
12
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. (21817059)
2011
13
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. (20804844)
2010
14
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. (20702862)
2010
15
Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. (20349543)
2010
16
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. (20067919)
2010
17
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. (18556335)
2008
18
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. (18076100)
2008
19
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. (18344409)
2008
20
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. (16490099)
2006
21
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (16392899)
2005
22
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. (16435228)
2005
23
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (14981719)
2004
24
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. (15480380)
2004
25
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. (12475721)
2003
26
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
27
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (11298379)
2001
28
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. (11483057)
2001
29
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. (11505445)
2001
30
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. (11503169)
2001
31
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. (11161831)
2001
32
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. (10899806)
2000
33
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. (10995508)
2000
34
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. (10069708)
1999
35
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. (10443904)
1999
36
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. (9714007)
1998
37
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (9683613)
1998
38
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. (9061771)
1997
39
New treatment strategy for Smith-Lemli-Opitz syndrome. (9130950)
1997
40
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
41
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. (10829981)
1996
42
Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. (8766772)
1996
43
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. (8808751)
1996
44
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. (7778591)
1995
45
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. (7778590)
1995
46
Smith-Lemli-Opitz syndrome. (8244478)
1993
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
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. (5642353)
1968

Variations for Smith-Lemli-Opitz Syndrome

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

68 (show all 53)
id Symbol AA change Variation ID SNP ID
1DHCR7p.Pro51SerVAR_012717rs104886035
2DHCR7p.Thr93MetVAR_012718rs80338853
3DHCR7p.Leu99ProVAR_012719rs104886041
4DHCR7p.His119LeuVAR_012720rs28938174
5DHCR7p.Leu157ProVAR_012721rs753960624
6DHCR7p.Gly244ArgVAR_012722rs121909764
7DHCR7p.Ala247ValVAR_012723
8DHCR7p.Trp248CysVAR_012724rs28939698
9DHCR7p.Thr289IleVAR_012725rs121909765
10DHCR7p.Val326LeuVAR_012726rs80338859
11DHCR7p.Arg352TrpVAR_012727rs80338860
12DHCR7p.Cys380SerVAR_012728
13DHCR7p.Arg404CysVAR_012729rs61757582
14DHCR7p.Gly410SerVAR_012730rs80338862
15DHCR7p.Glu448LysVAR_016975rs80338864
16DHCR7p.Leu68ProVAR_023148rs104886038
17DHCR7p.Gln107HisVAR_023149rs104886040
18DHCR7p.Leu109ProVAR_023150rs121912195
19DHCR7p.Ser113CysVAR_023151
20DHCR7p.Gly138ValVAR_023152
21DHCR7p.Ile145LeuVAR_023153
22DHCR7p.Gly147AspVAR_023154rs777425801
23DHCR7p.Thr154MetVAR_023155rs143312232
24DHCR7p.Ser169LeuVAR_023156rs80338855
25DHCR7p.Trp182CysVAR_023157
26DHCR7p.Trp182LeuVAR_023158
27DHCR7p.Cys183TyrVAR_023159
28DHCR7p.Lys198GluVAR_023160
29DHCR7p.Phe235SerVAR_023161
30DHCR7p.Arg242CysVAR_023162rs80338856
31DHCR7p.Arg242HisVAR_023163rs80338857
32DHCR7p.Phe255LeuVAR_023164
33DHCR7p.Val281MetVAR_023165rs398123607
34DHCR7p.Ile297ThrVAR_023166
35DHCR7p.Cys311GlyVAR_023167
36DHCR7p.Cys311TyrVAR_023168
37DHCR7p.Tyr324HisVAR_023169
38DHCR7p.Gly344ArgVAR_023170
39DHCR7p.Arg352GlnVAR_023171rs121909768
40DHCR7p.Val353AlaVAR_023172
41DHCR7p.Arg362CysVAR_023173rs371302153
42DHCR7p.Cys380ArgVAR_023174rs373306653
43DHCR7p.Cys380TyrVAR_023175rs779709646
44DHCR7p.Ser397LeuVAR_023176rs773134475
45DHCR7p.Arg404SerVAR_023177
46DHCR7p.His405TyrVAR_023178
47DHCR7p.Tyr408HisVAR_023179
48DHCR7p.Gly410ArgVAR_023180
49DHCR7p.His426ProVAR_023181
50DHCR7p.Arg443CysVAR_023182rs535561852
51DHCR7p.Arg446GlnVAR_023183
52DHCR7p.Glu448GlnVAR_023184
53DHCR7p.Arg450LeuVAR_023185rs542266962

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

5 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1DHCR7NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg)single nucleotide variantLikely pathogenicrs143312232GRCh38Chr 11, 71441392: 71441392
2DHCR7NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter)single nucleotide variantLikely pathogenicrs104886039GRCh38Chr 11, 71444022: 71444022
3DHCR7NM_001360.2(DHCR7): c.461C> T (p.Thr154Met)single nucleotide variantLikely pathogenicrs143312232GRCh38Chr 11, 71441392: 71441392
4DHCR7NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln)single nucleotide variantLikely pathogenicrs775034584GRCh38Chr 11, 71435377: 71435377
5DHCR7NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr)single nucleotide variantLikely pathogenicrs779709646GRCh38Chr 11, 71435664: 71435664
6DHCR7NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter)single nucleotide variantLikely pathogenicrs750345068GRCh37Chr 11, 71155249: 71155249
7DHCR7NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg)single nucleotide variantPathogenicrs142808899GRCh37Chr 11, 71148914: 71148914
8DHCR7NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser)single nucleotide variantPathogenicrs80338862GRCh37Chr 11, 71146621: 71146621
9DHCR7NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter)single nucleotide variantPathogenicrs11555217GRCh37Chr 11, 71152447: 71152447
10DHCR7NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu)single nucleotide variantPathogenicrs80338855GRCh37Chr 11, 71152393: 71152393
11DHCR7NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys)single nucleotide variantPathogenicrs80338856GRCh37Chr 11, 71150032: 71150032
12DHCR7NM_001360.2(DHCR7): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs80338857GRCh37Chr 11, 71150031: 71150031
13DHCR7NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu)single nucleotide variantPathogenicrs80338858GRCh37Chr 11, 71148915: 71148915
14DHCR7NM_001360.2(DHCR7): c.322_412delsingle nucleotide variantPathogenicrs786200926GRCh38Chr 11, 71442260: 71442260
15DHCR7NM_001360.2(DHCR7): c.832-1G> Csingle nucleotide variantPathogenicrs80338863GRCh37Chr 11, 71148990: 71148990
16DHCR7DHCR7, 96-BP DELdeletionPathogenic
17DHCR7DHCR7, 1-BP INS, 505CinsertionPathogenic
18DHCR7DHCR7, 1-BP INS, 586TinsertionPathogenic
19DHCR7NM_001360.2(DHCR7): c.356A> T (p.His119Leu)single nucleotide variantPathogenicrs28938174GRCh37Chr 11, 71153365: 71153365
20DHCR7NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs121909764GRCh37Chr 11, 71150026: 71150026
21DHCR7NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys)single nucleotide variantPathogenicrs104894212GRCh37Chr 11, 71150012: 71150012
22DHCR7NM_001360.2(DHCR7): c.278C> T (p.Thr93Met)single nucleotide variantPathogenicrs80338853GRCh37Chr 11, 71155082: 71155082
23DHCR7NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter)single nucleotide variantPathogenicrs104894213GRCh37Chr 11, 71152446: 71152446
24DHCR7NM_001360.2(DHCR7): c.976G> T (p.Val326Leu)single nucleotide variantPathogenicrs80338859GRCh37Chr 11, 71146873: 71146873
25DHCR7DHCR7, TRP37TERsingle nucleotide variantPathogenic
26DHCR7NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp)single nucleotide variantPathogenicrs80338860GRCh37Chr 11, 71146795: 71146795
27DHCR7NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys)single nucleotide variantPathogenicrs61757582GRCh37Chr 11, 71146639: 71146639
28DHCR7NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile)single nucleotide variantPathogenicrs121909765GRCh37Chr 11, 71148955: 71148955
29DHCR7NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys)single nucleotide variantPathogenicrs121909766GRCh37Chr 11, 71148982: 71148982
30DHCR7NM_001360.2(DHCR7): c.3G> A (p.Met1Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121909767GRCh37Chr 11, 71155996: 71155996
31DHCR7NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys)single nucleotide variantPathogenicrs80338864GRCh37Chr 11, 71146507: 71146507
32DHCR7DHCR7, PHE284LEUundetermined variantPathogenic
33DHCR7NM_001360.2(DHCR7): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenic, Pathogenicrs104886033GRCh37Chr 11, 71155998: 71155998
34DHCR7NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121909768GRCh37Chr 11, 71146794: 71146794
35DHCR7NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs104886035GRCh37Chr 11, 71155209: 71155209
36DHCR7NM_001360.2(DHCR7): c.841G> A (p.Val281Met)single nucleotide variantPathogenicrs398123607GRCh37Chr 11, 71148980: 71148980
37DHCR7NM_001360.2(DHCR7): c.964-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs138659167GRCh37Chr 11, 71146886: 71146886

Copy number variations for Smith-Lemli-Opitz Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
134824115640000076700000Copy numberDHCR7Smith-Lemli-Opitz syndrome

Expression for genes affiliated with Smith-Lemli-Opitz Syndrome

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Search GEO for disease gene expression data for Smith-Lemli-Opitz Syndrome.

Pathways for genes affiliated with Smith-Lemli-Opitz Syndrome

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7FDFT1, HMGCR
2
Show member pathways
9.5ABCA1, APOE
39.2APOE, LDLR
49.1CYP11A1, LDLR
5
Show member pathways
8.8DHCR7, FDFT1, HMGCR, HMGCS2
6
Show member pathways
8.8CYP11A1, KCNMA1, LDLR
78.7ABCA1, HMGCR, LDLR
8
Show member pathways
8.7ABCA1, APOE, LDLR
9
Show member pathways
8.6DHCR7, FDFT1, HMGCR, LDLR
10
Show member pathways
8.6ABCA1, FDFT1, HMGCR, HMGCS2
11
Show member pathways
7.9ABCA1, APOE, FDFT1, HMGCR, LDLR
12
Show member pathways
6.2ABCA1, APOE, CYP11A1, DHCR7, FDFT1, HMGCR

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

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Cellular components related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:003436410.1ABCA1, APOE
2low-density lipoprotein particleGO:00343629.9APOE, LDLR
3endoplasmic reticulumGO:00057838.7APOE, DHCR7, FDFT1, HMGCR, STS
4intracellular membrane-bounded organelleGO:00432318.6ABCA1, DHCR7, FDFT1, HMGCR, STS
5endoplasmic reticulum membraneGO:00057898.5ABCA1, DHCR7, FDFT1, HMGCR, STS

Biological processes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1myoblast differentiationGO:004544510.3HMGCR, SHH
2positive regulation of skeletal muscle tissue developmentGO:004864310.3HMGCR, SHH
3skin developmentGO:004358810.2SHH, STS
4regulation of Cdc42 protein signal transductionGO:003248910.1ABCA1, APOE
5phospholipid effluxGO:003370010.1ABCA1, APOE
6lipoprotein biosynthetic processGO:004215810.1ABCA1, APOE
7positive regulation of cholesterol effluxGO:001087510.1ABCA1, APOE
8high-density lipoprotein particle assemblyGO:003438010.1ABCA1, APOE
9negative regulation of MAP kinase activityGO:004340710.1APOE, HMGCR
10cholesterol effluxGO:003334410.1ABCA1, APOE
11reverse cholesterol transportGO:004369110.1ABCA1, APOE
12lipoprotein catabolic processGO:00421599.8APOE, LDLR
13phospholipid transportGO:00159149.7ABCA1, LDLR
14cholesterol transportGO:00303019.7ABCA1, LDLR
15isoprenoid biosynthetic processGO:00082999.7FDFT1, HMGCR, HMGCS2
16cellular response to fatty acidGO:00713989.6HMGCS2, LDLR
17response to nutrientGO:00075849.4ABCA1, HMGCR, HMGCS2
18lung developmentGO:00303249.4DHCR7, HMGCS2, SHH
19cholesterol biosynthetic processGO:00066959.2DHCR7, FDFT1, HMGCR, HMGCS2
20lipoprotein metabolic processGO:00421579.2ABCA1, APOE, LDLR
21cholesterol homeostasisGO:00426329.1ABCA1, APOE, LDLR
22oxidation-reduction processGO:00551148.9CYP11A1, DHCR7, FDFT1, HMGCR
23cholesterol metabolic processGO:00082038.6ABCA1, APOE, CYP11A1, LDLR

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.5ABCA1, APOE
2cholesterol transporter activityGO:00171279.2ABCA1, APOE

Sources for Smith-Lemli-Opitz Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
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39MGI
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65Tumor Gene Family of Databases
66UMLS
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