MCID: SMT004
MIFTS: 65

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:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 49 10 11 68 21 45 22 23 47 12 51 67 36 65
Rsh Syndrome 21 45 22 23 51 67
Slos 21 45 22 23 51 67
Slo Syndrome 21 45 22 23 67
7-Dehydrocholesterol Reductase Deficiency 45 23 51 65
Rutledge Lethal Multiple Congenital Anomaly Syndrome 10 45 67
 
Smith Lemli Opitz Syndrome 45 22 24
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 45
Smith-Lemli-Opitz Syndrome, Type Ii 65
Lethal Acrodysgenital Syndrome 45
Smith-Opitz-Inborn Syndrome 10

Characteristics:

Orphanet epidemiological data:

51
smith-lemli-opitz syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
smith-lemli-opitz syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 270400
Disease Ontology10 DOID:14692
ICD1027 E78.72
MeSH36 D019082
NCIt42 C85071
SNOMED-CT59 43929004
Orphanet51 818
UMLS via Orphanet66 C2713347, C0175694
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D019082
UMLS65 C0175694, C0282644, C2713347

Summaries for Smith-Lemli-Opitz Syndrome

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OMIM:49 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 sost-related sclerosing bone dysplasia and greenberg skeletal dysplasia, and has symptoms including increased nuchal translucency, abnormal dermatoglyphics and abnormality of dental morphology. 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.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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).

Wikipedia:68 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

About this section

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:

 51 (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 186)
id Description Frequency HPO Source Accession
1 increased nuchal translucency hallmark (90%) HP:0010880
2 abnormal dermatoglyphics hallmark (90%) HP:0007477
3 abnormality of dental morphology hallmark (90%) HP:0006482
4 short stature hallmark (90%) HP:0004322
5 abnormality of lipid metabolism hallmark (90%) HP:0003119
6 toe syndactyly hallmark (90%) HP:0001770
7 muscular hypotonia hallmark (90%) HP:0001252
8 anteverted nares hallmark (90%) HP:0000463
9 micrognathia hallmark (90%) HP:0000347
10 microcephaly hallmark (90%) HP:0000252
11 self-injurious behavior typical (50%) HP:0100716
12 displacement of the external urethral meatus typical (50%) HP:0100627
13 abnormality of immune system physiology typical (50%) HP:0010978
14 proximal placement of thumb typical (50%) HP:0009623
15 hypoplasia of penis typical (50%) HP:0008736
16 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
17 attention deficit hyperactivity disorder typical (50%) HP:0007018
18 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
19 abnormality of the nipple typical (50%) HP:0004404
20 reduced consciousness/confusion typical (50%) HP:0004372
21 abnormality of the hip bone typical (50%) HP:0003272
22 tracheal stenosis typical (50%) HP:0002777
23 sleep disturbance typical (50%) HP:0002360
24 ventriculomegaly typical (50%) HP:0002119
25 abnormal lung lobation typical (50%) HP:0002101
26 postaxial foot polydactyly typical (50%) HP:0001830
27 complete atrioventricular canal defect typical (50%) HP:0001674
28 atria septal defect typical (50%) HP:0001631
29 ventricular septal defect typical (50%) HP:0001629
30 abnormality of the larynx typical (50%) HP:0001600
31 polyhydramnios typical (50%) HP:0001561
32 intrauterine growth retardation typical (50%) HP:0001511
33 abnormality of the metacarpal bones typical (50%) HP:0001163
34 postaxial hand polydactyly typical (50%) HP:0001162
35 cutaneous photosensitivity typical (50%) HP:0000992
36 cutis marmorata typical (50%) HP:0000965
37 autism typical (50%) HP:0000717
38 ptosis typical (50%) HP:0000508
39 short neck typical (50%) HP:0000470
40 low-set, posteriorly rotated ears typical (50%) HP:0000368
41 long philtrum typical (50%) HP:0000343
42 narrow forehead typical (50%) HP:0000341
43 gingival overgrowth typical (50%) HP:0000212
44 cleft palate typical (50%) HP:0000175
45 wide mouth typical (50%) HP:0000154
46 ambiguous genitalia typical (50%) HP:0000062
47 abnormality of female external genitalia typical (50%) HP:0000055
48 cryptorchidism typical (50%) HP:0000028
49 abnormal localization of kidney occasional (7.5%) HP:0100542
50 increased number of teeth occasional (7.5%) HP:0011069
51 bifid tongue occasional (7.5%) HP:0010297
52 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
53 reduced number of teeth occasional (7.5%) HP:0009804
54 ulnar deviation of finger occasional (7.5%) HP:0009465
55 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
56 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
57 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
58 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
59 advanced eruption of teeth occasional (7.5%) HP:0006288
60 finger syndactyly occasional (7.5%) HP:0006101
61 hypopigmentation of hair occasional (7.5%) HP:0005599
62 abnormality of the gallbladder occasional (7.5%) HP:0005264
63 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
64 micromelia occasional (7.5%) HP:0002983
65 kyphosis occasional (7.5%) HP:0002808
66 scoliosis occasional (7.5%) HP:0002650
67 aganglionic megacolon occasional (7.5%) HP:0002251
68 pyloric stenosis occasional (7.5%) HP:0002021
69 talipes occasional (7.5%) HP:0001883
70 abnormality of the spleen occasional (7.5%) HP:0001743
71 patent ductus arteriosus occasional (7.5%) HP:0001643
72 holoprosencephaly occasional (7.5%) HP:0001360
73 hypertonia occasional (7.5%) HP:0001276
74 seizures occasional (7.5%) HP:0001250
75 split hand occasional (7.5%) HP:0001171
76 brachydactyly syndrome occasional (7.5%) HP:0001156
77 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
78 abnormality of the ribs occasional (7.5%) HP:0000772
79 abnormality of dental enamel occasional (7.5%) HP:0000682
80 optic atrophy occasional (7.5%) HP:0000648
81 sclerocornea occasional (7.5%) HP:0000647
82 nystagmus occasional (7.5%) HP:0000639
83 iris coloboma occasional (7.5%) HP:0000612
84 upslanted palpebral fissure occasional (7.5%) HP:0000582
85 proptosis occasional (7.5%) HP:0000520
86 cataract occasional (7.5%) HP:0000518
87 glaucoma occasional (7.5%) HP:0000501
88 abnormality of the eyelashes occasional (7.5%) HP:0000499
89 downslanted palpebral fissures occasional (7.5%) HP:0000494
90 strabismus occasional (7.5%) HP:0000486
91 choanal atresia occasional (7.5%) HP:0000453
92 sensorineural hearing impairment occasional (7.5%) HP:0000407
93 hypertelorism occasional (7.5%) HP:0000316
94 epicanthus occasional (7.5%) HP:0000286
95 abnormality of the ureter occasional (7.5%) HP:0000069
96 multicystic kidney dysplasia occasional (7.5%) HP:0000003
97 hip subluxation HP:0030043
98 epiphyseal stippling HP:0010655
99 elevated 7-dehydrocholesterol HP:0010569
100 short thumb HP:0009778
101 proximal placement of thumb HP:0009623
102 severe photosensitivity HP:0007537
103 hypoplasia of the frontal lobes HP:0007333
104 periventricular gray matter heterotopia HP:0007165
105 sleep-wake cycle disturbance HP:0006979
106 depressed nasal bridge HP:0005280
107 2-3 toe syndactyly HP:0004691
108 short stature HP:0004322
109 hypocholesterolemia HP:0003146
110 micromelia HP:0002983
111 hip dislocation HP:0002827
112 cholestatic liver disease HP:0002611
113 gastrointestinal dysmotility HP:0002579
114 intestinal malrotation HP:0002566
115 aganglionic megacolon HP:0002251
116 abnormal lung lobation HP:0002101
117 pulmonary hypoplasia HP:0002089
118 hypoplasia of the corpus callosum HP:0002079
119 poor suck HP:0002033
120 pyloric stenosis HP:0002021
121 gastroesophageal reflux HP:0002020
122 constipation HP:0002019
123 vomiting HP:0002013
124 talipes calcaneovalgus HP:0001884
125 overlapping toe HP:0001845
126 metatarsus adductus HP:0001840
127 short toe HP:0001831
128 postaxial foot polydactyly HP:0001830
129 hammertoe HP:0001765
130 coarctation of aorta HP:0001680
131 patent ductus arteriosus HP:0001643
132 atria septal defect HP:0001631
133 ventricular septal defect HP:0001629
134 breech presentation HP:0001623
135 premature birth HP:0001622
136 decreased fetal movement HP:0001558
137 intrauterine growth retardation HP:0001511
138 failure to thrive HP:0001508
139 holoprosencephaly HP:0001360
140 dandy-walker malformation HP:0001305
141 generalized hypotonia HP:0001290
142 hypertonia HP:0001276
143 seizures HP:0001250
144 intellectual disability HP:0001249
145 postaxial hand polydactyly HP:0001162
146 septate vagina HP:0001153
147 facial capillary hemangioma HP:0000996
148 eczema HP:0000964
149 precocious puberty HP:0000826
150 bicornuate uterus HP:0000813
151 hyperactivity HP:0000752
152 self-mutilation HP:0000742
153 aggressive behavior HP:0000718
154 autism HP:0000717
155 dental crowding HP:0000678
156 nystagmus HP:0000639
157 cataract HP:0000518
158 ptosis HP:0000508
159 strabismus HP:0000486
160 anteverted nares HP:0000463
161 wide nasal bridge HP:0000431
162 recurrent otitis media HP:0000403
163 low-set ears HP:0000369
164 hearing impairment HP:0000365
165 posteriorly rotated ears HP:0000358
166 micrognathia HP:0000347
167 long philtrum HP:0000343
168 narrow forehead HP:0000341
169 hypertelorism HP:0000316
170 epicanthus HP:0000286
171 microcephaly HP:0000252
172 hydrocephalus HP:0000238
173 broad alveolar ridges HP:0000187
174 cleft palate HP:0000175
175 microglossia HP:0000171
176 hydronephrosis HP:0000126
177 renal cyst HP:0000107
178 renal agenesis HP:0000104
179 renal hypoplasia HP:0000089
180 ureteropelvic junction obstruction HP:0000074
181 ambiguous genitalia HP:0000062
182 micropenis HP:0000054
183 bifid scrotum HP:0000048
184 hypospadias HP:0000047
185 scrotal hypoplasia HP:0000046
186 cryptorchidism HP:0000028

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):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 1, Phase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
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
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
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]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
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
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
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
SimvastatinapprovedPhase 249379902-63-954454
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
3Hypolipidemic AgentsPhase 22228
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21804
5Anticholesteremic AgentsPhase 21732
6AntimetabolitesPhase 29454
7tannic acidNutraceuticalPhase 1, Phase 21684
8Protective Agents5651
9Antioxidants2442
10Anesthetics7385

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

About this section

Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome22 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

About this section

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

33
Lung, Kidney, Heart, Bone, Tongue, Testes, Spleen

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3ABCA1, APOE, DHCR7, KCNMA1, SHH
2MP:00053708.2ABCA1, APOE, DHCR7, HMGCR, LDLR
3MP:00053817.8ABCA1, APOE, DHCR7, KCNMA1, LDLR, SHH
4MP:00053697.6ABCA1, APOE, DHCR7, KCNMA1, LDLR, SHH
5MP:00053857.6ABCA1, APOE, DHCR7, KCNMA1, LDLR, SHH
6MP:00036317.4ABCA1, APOE, DHCR7, FDFT1, KCNMA1, LDLR
7MP:00107686.7ABCA1, APOE, DHCR7, FDFT1, HMGCR, KCNMA1
8MP:00053786.5ABCA1, APOE, DHCR7, FDFT1, HMGCR, KCNMA1

Publications for Smith-Lemli-Opitz Syndrome

About this section

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50)    (show all 436)
idTitleAuthorsYear
1
Activated Pak4 expression correlates with poor prognosis in human gastric cancer patients. (26124003)
2015
2
Decoding the regulatory landscape of melanoma reveals TEADS as regulators of the invasive cell state. (25865119)
2015
3
Gamma-secretase inhibitor does not modulate angiogenesis in colon adenocarcinoma in obese mice. (25773953)
2015
4
Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (25751106)
2015
5
A case of perforating folliculitis in association with antisynthetase syndrome. (26016976)
2015
6
A practice-changing step forward in germ-cell cancer? (25456352)
2014
7
Plasmin(ogen) acquisition by group A Streptococcus protects against C3b-mediated neutrophil killing. (23969887)
2014
8
LASP1 is a novel BCR-ABL substrate and a phosphorylation-dependent binding partner of CRKL in chronic myeloid leukemia. (24913448)
2014
9
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
10
Neutrophil-to-lymphocyte ratio, insulin resistance, and endothelial dysfunction in patients with autosomal dominant polycystic kidney disease. (23580803)
2013
11
In vivo activity and pharmacokinetics of nemorosone on pancreatic cancer xenografts. (24040280)
2013
12
Identification of ovarian cancer metastatic miRNAs. (23554878)
2013
13
High frequency of CD29high intermediate monocytes correlates with the activity of chronic graft-versus-host disease. (23795856)
2013
14
Optimization and expansion of predictive models for Barrett's esophagus and esophageal adenocarcinoma: could a life-course exposure history be beneficial? (23735915)
2013
15
Etiology of unilateral hearing loss in a national hereditary deafness repository. (22534022)
2012
16
Rethinking iron regulation and assessment in iron deficiency, anemia of chronic disease, and obesity: introducing hepcidin. (22717199)
2012
17
Intradermal immunization in the ear with cholera toxin and its non-toxic I^ subunit promotes efficient Th1 and Th17 differentiation dependent on migrating DCs. (21792876)
2011
18
SMOC1 is essential for ocular and limb development in humans and mice. (21194678)
2011
19
Chinese herbal medicine for chronic neck pain due to cervical degenerative disc disease. (20091597)
2010
20
Are you SAD? Recognizing seasonal affective disorder. (21329283)
2010
21
The NF-kappaB inhibitors (bortezomib and DHMEQ) sensitise rituximab-resistant AIDS-B-non-Hodgkin lymphoma to apoptosis by various chemotherapeutic drugs. (18949621)
2008
22
Over-expression of COX-2 induces human ovarian cancer cells (CAOV-3) viability, migration and proliferation in association with PI3-k/Akt activation. (18798061)
2008
23
ZAP-70 protein expression and CD38 positivity in B-cell chronic lymphocytic leukemia. (18322442)
2008
24
Correspondence between ultrasonography and histological features in a single thyroid nodule with coexisting follicular adenoma and papillary carcinoma. (18631017)
2008
25
Lung fibrosis in carcinoid syndrome. (17409611)
2007
26
Early onset severe pre-eclampsia: expectant management at a secondary hospital in close association with a tertiary institution. (15663403)
2005
27
The olive baboon (Papio anubis): a potential animal model to study the function of human leukocyte antigen-G (HLA-G). (14974449)
2004
28
Protein phosphatase 2A positively regulates Ras signaling by dephosphorylating KSR1 and Raf-1 on critical 14-3-3 binding sites. (12932319)
2003
29
Regulation of a transient receptor potential (TRP) channel by tyrosine phosphorylation. SRC family kinase-dependent tyrosine phosphorylation of TRPV4 on TYR-253 mediates its response to hypotonic stress. (12538589)
2003
30
Familial breast cancer. Part II: Relationships with histology, staging, steroid receptors and serum tumor markers. (17577263)
2002
31
Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. (11916980)
2002
32
Ephrin-A5 modulates cell adhesion and morphology in an integrin-dependent manner. (11032807)
2000
33
Alteration of beta-catenin expression in esophageal squamous-cell carcinoma. (10709091)
2000
34
A three dimensional surgical dose-response schedule for lateral rectus resections for residual congenital/infantile esotropia after large bilateral medial rectus recessions. (10767679)
2000
35
Inhibition of disease flare with diethylstilbestrol diphosphate and chlormadinone acetate administration for two weeks prior to slow-releasing leuprolide acetate in prostatic cancer patients. (11019371)
2000
36
Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA. (10534569)
1999
37
A full genome scan for late onset Alzheimer's disease. (9931331)
1999
38
Hepatitis G virus infection detected in a woman with intrahepatic cholestasis of pregnancy. (9890225)
1998
39
Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. (8995371)
1997
40
Plasma total versus bone alkaline phosphatase as markers of bone turnover in hemodialysis patients. (8704118)
1996
41
Site-specific rates of excision repair of benzo[a]pyrene diol epoxide adducts in the hypoxanthine phosphoribosyltransferase gene of human fibroblasts: correlation with mutation spectra. (7892248)
1995
42
Estrogen receptor-associated proteins: possible mediators of hormone-induced transcription. (8197458)
1994
43
Growth hormone-releasing activity of hexarelin, a new synthetic hexapeptide, after intravenous, subcutaneous, intranasal, and oral administration in man. (8126144)
1994
44
Atypical Hemolytic-Uremic Syndrome (20301541)
1993
45
Disseminated fusariosis involving bone in an adolescent with leukemia. (1454441)
1992
46
Neural differentiation in small round cell tumors of bone and soft tissue with the translocation t(11;22)(q24;q12): an immunohistochemical study of 11 cases. (2174403)
1990
47
Effect of prostaglandins on experimental paralytic ileus. (1243594)
1975
48
INTERMITTENT EXOTROPIA. (14166229)
1964
49
Xerophthalmia-xerostomia. (19989005)
1932
50

Variations for Smith-Lemli-Opitz Syndrome

About this section

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

67 (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:

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 pathogenicrs143312232GRCh37Chr 11, 71152438: 71152438
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 pathogenicrs750345068GRCh38Chr 11, 71444203: 71444203
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

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:

idSuper pathwaysScoreTop Affiliating Genes
19.7FDFT1, HMGCR
2
Show member pathways
9.1ABCA1, APOE
39.1APOE, LDLR
49.0ABCA1, HMGCR, LDLR
5
Show member pathways
8.9DHCR7, FDFT1, HMGCR, LDLR
6
Show member pathways
8.8DHCR7, FDFT1, HMGCR, HMGCS2
7
Show member pathways
8.6ABCA1, APOE, LDLR
8
Show member pathways
8.5ABCA1, FDFT1, HMGCR, HMGCS2
9
Show member pathways
7.8ABCA1, APOE, FDFT1, HMGCR, LDLR
10
Show member pathways
6.5ABCA1, APOE, DHCR7, FDFT1, HMGCR, HMGCS2

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

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1myoblast differentiationGO:004544510.1HMGCR, SHH
2isoprenoid biosynthetic processGO:000829910.0HMGCR, HMGCS2
3negative regulation of cholesterol effluxGO:00903709.9APOE, SHH
4phospholipid transportGO:00159149.8ABCA1, LDLR
5skin developmentGO:00435889.7SHH, STS
6high-density lipoprotein particle assemblyGO:00343809.7ABCA1, APOE
7lipoprotein catabolic processGO:00421599.6APOE, LDLR
8reverse cholesterol transportGO:00436919.6ABCA1, APOE
9response to nutrientGO:00075849.5ABCA1, HMGCS2
10cholesterol metabolic processGO:00082039.5APOE, LDLR
11cholesterol biosynthetic processGO:00066959.4HMGCR, HMGCS2
12cholesterol effluxGO:00333449.4ABCA1, APOE
13cellular lipid metabolic processGO:00442559.1FDFT1, HMGCR, HMGCS2
14cholesterol homeostasisGO:00426328.7ABCA1, APOE, LDLR

Sources for Smith-Lemli-Opitz Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet