SLOS
MCID: SMT004
MIFTS: 66

Smith-Lemli-Opitz Syndrome (SLOS) 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

Aliases & Descriptions for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 54 12 71 23 50 24 25 56 66 13 52 42 14 69
Rsh Syndrome 23 50 24 25 56 66
Slos 23 50 24 25 56 66
Slo Syndrome 23 50 24 25 66
7-Dehydrocholesterol Reductase Deficiency 50 25 56 69
Rutledge Lethal Multiple Congenital Anomaly Syndrome 12 50 66
Smith Lemli Opitz Syndrome 50 24 29
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 50
Smith-Lemli-Opitz Syndrome, Type Ii 69
Lethal Acrodysgenital Syndrome 50
Smith-Opitz-Inborn Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 270400
Disease Ontology 12 DOID:14692
ICD10 33 E78.72
MeSH 42 D019082
NCIt 47 C85071
SNOMED-CT 64 43929004
Orphanet 56 ORPHA818
MESH via Orphanet 43 D019082
UMLS via Orphanet 70 C0175694 C2713347
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0175694

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 54 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 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome and greenberg skeletal dysplasia, and has symptoms including seizures, hypertelorism and short neck. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Genetics Home Reference : 25 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 : 50 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 : 66 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 : 71 Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn... more...

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.3
2 greenberg skeletal dysplasia 11.3
3 van buchem disease 11.3
4 retinitis 10.5
5 retinal degeneration 10.5
6 cataract 10.4
7 autism spectrum disorder 10.3
8 malignant hyperthermia 10.3
9 polydactyly 10.3
10 neuronitis 10.3
11 holoprosencephaly 10.2
12 sclerocornea 10.2
13 achalasia 10.2
14 syndactyly 10.2
15 birth defects 10.2
16 heart disease 10.2
17 5-alpha reductase deficiency 10.2
18 dwarfism 10.2
19 cerebrotendinous xanthomatosis 10.2
20 cholestasis 10.2
21 precocious puberty 10.2
22 pallister-hall syndrome 10.2
23 polyneuropathy 10.2
24 mixed germ cell tumor 10.2
25 lathosterolosis 10.2
26 down syndrome 10.2
27 renal dysplasia 10.2
28 hydrolethalus syndrome 10.2
29 hypothyroidism 10.2
30 rubinstein-taybi syndrome 10.2
31 xanthomatosis 10.2
32 cerebritis 10.2
33 pulmonary hypertension 10.2
34 pseudohermaphroditism 10.2
35 conjunctivitis 10.2
36 hepatitis 10.2
37 dyschromatosis universalis hereditaria 10.1 SHH STS
38 gallbladder disease 4 10.1 FDFT1 HMGCR
39 fibrosarcoma of bone 10.0 HMGCR LDLR
40 porencephaly 2 10.0 APOE HMGCR
41 keratoconus 4 9.9 APOE LDLR
42 alzheimer disease 19, late onset 9.9 APOE LDLR
43 hypercholesterolemia, due to ligand-defective apo b 9.9 APOE LDLR
44 dentinogenesis imperfecta type 2 9.8 APOE HMGCR LDLR
45 skin squamous cell carcinoma 9.8 APOE HMGCR LDLR
46 bird fancier's lung 9.8 ABCA1 APOE
47 acute apical periodontitis 9.8 APOE HMGCR LDLR
48 lipomatosis 9.8 APOE HMGCR LDLR
49 asphyxia neonatorum 9.7 ABCA1 APOE LDLR
50 stone in bladder diverticulum 9.7 APOE LDLR

Graphical network of the top 20 diseases related to Smith-Lemli-Opitz Syndrome:



Diseases related to Smith-Lemli-Opitz Syndrome

Symptoms & Phenotypes for Smith-Lemli-Opitz Syndrome

Symptoms by clinical synopsis from OMIM:

270400

Clinical features from OMIM:

270400

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

56 32 (show top 50) (show all 158)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hypertelorism 56 32 Occasional (29-5%) HP:0000316
3 short neck 56 32 Frequent (79-30%) HP:0000470
4 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 nystagmus 56 32 Occasional (29-5%) HP:0000639
7 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
8 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
9 scoliosis 56 32 Occasional (29-5%) HP:0002650
10 kyphosis 56 32 Occasional (29-5%) HP:0002808
11 self-injurious behavior 56 32 Frequent (79-30%) HP:0100716
12 gingival overgrowth 56 32 Frequent (79-30%) HP:0000212
13 cataract 56 32 Occasional (29-5%) HP:0000518
14 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
15 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
16 microcephaly 56 32 Very frequent (99-80%) HP:0000252
17 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
18 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
19 optic atrophy 56 32 Occasional (29-5%) HP:0000648
20 short stature 56 32 Very frequent (99-80%) HP:0004322
21 hypertonia 56 32 Occasional (29-5%) HP:0001276
22 gastroesophageal reflux 56 32 Very frequent (99-80%) HP:0002020
23 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
24 abnormality of the gallbladder 56 32 Occasional (29-5%) HP:0005264
25 cleft palate 56 32 Frequent (79-30%) HP:0000175
26 long philtrum 56 32 Frequent (79-30%) HP:0000343
27 micrognathia 56 32 Very frequent (99-80%) HP:0000347
28 strabismus 56 32 Occasional (29-5%) HP:0000486
29 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
30 epicanthus 56 32 Occasional (29-5%) HP:0000286
31 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
32 biparietal narrowing 56 32 Frequent (79-30%) HP:0004422
33 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
34 autism 56 32 Frequent (79-30%) HP:0000717
35 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
36 wide intermamillary distance 56 32 Frequent (79-30%) HP:0006610
37 abnormal dermatoglyphics 56 32 Very frequent (99-80%) HP:0007477
38 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
39 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
40 abnormality of the eyelashes 56 32 Occasional (29-5%) HP:0000499
41 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
42 hypopigmentation of hair 56 32 Occasional (29-5%) HP:0005599
43 hip dislocation 56 32 Frequent (79-30%) HP:0002827
44 wide mouth 56 32 Frequent (79-30%) HP:0000154
45 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
46 rhizomelia 56 32 Occasional (29-5%) HP:0008905
47 hypospadias 56 32 Frequent (79-30%) HP:0000047
48 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
49 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
50 glaucoma 56 32 Occasional (29-5%) HP:0000501

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


constipation, seizures, vomiting

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 ABCA1 APOE HMGCR LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
2 cardiovascular system MP:0005385 9.91 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
3 digestive/alimentary MP:0005381 9.88 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
4 mortality/aging MP:0010768 9.86 ABCA1 APOE DHCR7 FDFT1 HMGCR KCNMA1
5 liver/biliary system MP:0005370 9.72 ABCA1 APOE DHCR7 HMGCR LDLR
6 muscle MP:0005369 9.63 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
7 nervous system MP:0003631 9.5 LDLR SHH ABCA1 APOE DHCR7 FDFT1
8 renal/urinary system MP:0005367 9.02 ABCA1 APOE DHCR7 KCNMA1 SHH

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Hypolipidemic Agents Phase 2
6 Anticholesteremic Agents Phase 2
7 Lipid Regulating Agents Phase 2
8 Antimetabolites Phase 2
9 Phytosterol Nutraceutical Phase 1, Phase 2
10 Anesthetics
11 Protective Agents
12 Antioxidants

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
3 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2
4 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
5 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
6 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2
8 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
9 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745
10 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
11 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
12 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
13 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
14 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

Genetic tests related to Smith-Lemli-Opitz Syndrome:

id Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 29 24 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

39
Lung, Kidney, Heart, Eye, Bone, Skin, Brain

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50) (show all 453)
id Title Authors Year
1
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
2
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
3
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
4
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
5
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
6
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
7
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
8
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
9
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
10
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
11
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
12
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
13
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
14
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. ( 27526097 )
2016
15
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
16
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
17
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
18
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
19
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
20
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
21
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. ( 26347274 )
2015
22
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
23
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
24
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
25
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
26
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
27
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
28
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
29
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
30
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
31
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
32
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
33
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
34
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
35
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. ( 23361583 )
2013
36
Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 23979708 )
2013
37
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. ( 24296449 )
2013
38
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? ( 24533230 )
2013
39
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
40
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
41
Abnormal motor behavior at 23a88weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). ( 23595802 )
2013
42
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. ( 23072947 )
2013
43
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
44
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. ( 23022980 )
2013
45
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. ( 23859856 )
2013
46
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2013
47
An efficient synthesis of 4I+- and 4I^-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. ( 23920082 )
2013
48
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
49
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. ( 23319240 )
2013
50
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. ( 23918729 )
2013

Variations for Smith-Lemli-Opitz Syndrome

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

66 (show top 50) (show all 53)
id Symbol AA change Variation ID SNP ID
1 DHCR7 p.Pro51Ser VAR_012717 rs104886035
2 DHCR7 p.Thr93Met VAR_012718 rs80338853
3 DHCR7 p.Leu99Pro VAR_012719 rs104886041
4 DHCR7 p.His119Leu VAR_012720 rs28938174
5 DHCR7 p.Leu157Pro VAR_012721 rs753960624
6 DHCR7 p.Gly244Arg VAR_012722 rs121909764
7 DHCR7 p.Ala247Val VAR_012723
8 DHCR7 p.Trp248Cys VAR_012724 rs28939698
9 DHCR7 p.Thr289Ile VAR_012725 rs121909765
10 DHCR7 p.Val326Leu VAR_012726 rs80338859
11 DHCR7 p.Arg352Trp VAR_012727 rs80338860
12 DHCR7 p.Cys380Ser VAR_012728
13 DHCR7 p.Arg404Cys VAR_012729 rs61757582
14 DHCR7 p.Gly410Ser VAR_012730 rs80338862
15 DHCR7 p.Glu448Lys VAR_016975 rs80338864
16 DHCR7 p.Leu68Pro VAR_023148 rs104886038
17 DHCR7 p.Gln107His VAR_023149 rs104886040
18 DHCR7 p.Leu109Pro VAR_023150 rs121912195
19 DHCR7 p.Ser113Cys VAR_023151
20 DHCR7 p.Gly138Val VAR_023152
21 DHCR7 p.Ile145Leu VAR_023153
22 DHCR7 p.Gly147Asp VAR_023154 rs777425801
23 DHCR7 p.Thr154Met VAR_023155 rs143312232
24 DHCR7 p.Ser169Leu VAR_023156 rs80338855
25 DHCR7 p.Trp182Cys VAR_023157
26 DHCR7 p.Trp182Leu VAR_023158
27 DHCR7 p.Cys183Tyr VAR_023159
28 DHCR7 p.Lys198Glu VAR_023160
29 DHCR7 p.Phe235Ser VAR_023161
30 DHCR7 p.Arg242Cys VAR_023162 rs80338856
31 DHCR7 p.Arg242His VAR_023163 rs80338857
32 DHCR7 p.Phe255Leu VAR_023164
33 DHCR7 p.Val281Met VAR_023165 rs398123607
34 DHCR7 p.Ile297Thr VAR_023166
35 DHCR7 p.Cys311Gly VAR_023167
36 DHCR7 p.Cys311Tyr VAR_023168
37 DHCR7 p.Tyr324His VAR_023169
38 DHCR7 p.Gly344Arg VAR_023170
39 DHCR7 p.Arg352Gln VAR_023171 rs121909768
40 DHCR7 p.Val353Ala VAR_023172
41 DHCR7 p.Arg362Cys VAR_023173 rs371302153
42 DHCR7 p.Cys380Arg VAR_023174 rs373306653
43 DHCR7 p.Cys380Tyr VAR_023175 rs779709646
44 DHCR7 p.Ser397Leu VAR_023176 rs773134475
45 DHCR7 p.Arg404Ser VAR_023177
46 DHCR7 p.His405Tyr VAR_023178
47 DHCR7 p.Tyr408His VAR_023179
48 DHCR7 p.Gly410Arg VAR_023180
49 DHCR7 p.His426Pro VAR_023181
50 DHCR7 p.Arg443Cys VAR_023182 rs535561852

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

6 (show top 50) (show all 56)
id Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
2 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
3 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
4 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
5 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
6 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
7 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
8 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
9 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
10 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
11 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
12 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
13 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
14 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
15 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
16 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
17 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
18 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
19 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
20 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
21 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
22 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
23 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
24 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
25 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
26 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
27 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
28 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Pathogenic rs398123607 GRCh37 Chromosome 11, 71148980: 71148980
29 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
30 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
31 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh37 Chromosome 11, 71155249: 71155249
32 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
33 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
34 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
35 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
36 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Pathogenic/Likely pathogenic rs142808899 GRCh37 Chromosome 11, 71148914: 71148914
37 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Likely pathogenic rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
38 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
39 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
40 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
41 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
42 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh38 Chromosome 11, 71435737: 71435737
43 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh37 Chromosome 11, 71146854: 71146854
44 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh37 Chromosome 11, 71146858: 71146858
45 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh38 Chromosome 11, 71435822: 71435822
46 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh38 Chromosome 11, 71437810: 71437810
47 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh38 Chromosome 11, 71437811: 71437811
48 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh37 Chromosome 11, 71149923: 71149923
49 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh38 Chromosome 11, 71438906: 71438906
50 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 34824 11 56400000 76700000 Copy number DHCR7 Smith-Lemli-Opitz syndrome

Expression for Smith-Lemli-Opitz Syndrome

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

Pathways for Smith-Lemli-Opitz Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2
Show member pathways
12.51 ABCA1 FDFT1 HMGCR HMGCS2
3
Show member pathways
11.97 ABCA1 APOE LDLR
4
Show member pathways
11.51 DHCR7 FDFT1 HMGCR HMGCS2
5
Show member pathways
11.48 DHCR7 FDFT1 HMGCR
6 11.3 FDFT1 HMGCR LDLR
7 11.02 APOE LDLR
8
Show member pathways
10.87 FDFT1 HMGCR
9
Show member pathways
10.85 ABCA1 APOE FDFT1 HMGCR LDLR
10 10.41 ABCA1 HMGCR LDLR

GO Terms for Smith-Lemli-Opitz Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.72 APOE DHCR7 FDFT1 HMGCR STS
2 endoplasmic reticulum lumen GO:0005788 9.58 APOE SHH STS
3 endoplasmic reticulum membrane GO:0005789 9.55 ABCA1 DHCR7 FDFT1 HMGCR STS
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 APOE LDLR
5 high-density lipoprotein particle GO:0034364 9.26 ABCA1 APOE
6 intracellular membrane-bounded organelle GO:0043231 9.02 ABCA1 DHCR7 FDFT1 HMGCR STS
7 low-density lipoprotein particle GO:0034362 8.96 APOE LDLR

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
2 regulation of lipid metabolic process GO:0019216 9.73 ABCA1 FDFT1 HMGCR HMGCS2
3 cholesterol homeostasis GO:0042632 9.7 ABCA1 APOE LDLR
4 lipoprotein metabolic process GO:0042157 9.67 ABCA1 APOE LDLR
5 steroid biosynthetic process GO:0006694 9.67 DHCR7 FDFT1 HMGCR HMGCS2
6 regulation of cholesterol biosynthetic process GO:0045540 9.63 DHCR7 FDFT1 HMGCR
7 phospholipid transport GO:0015914 9.62 ABCA1 LDLR
8 negative regulation of MAP kinase activity GO:0043407 9.62 APOE HMGCR
9 cholesterol biosynthetic process GO:0006695 9.62 DHCR7 FDFT1 HMGCR HMGCS2
10 cholesterol efflux GO:0033344 9.61 ABCA1 APOE
11 cholesterol transport GO:0030301 9.61 ABCA1 LDLR
12 reverse cholesterol transport GO:0043691 9.6 ABCA1 APOE
13 myoblast differentiation GO:0045445 9.59 HMGCR SHH
14 positive regulation of cholesterol efflux GO:0010875 9.58 ABCA1 APOE
15 high-density lipoprotein particle assembly GO:0034380 9.58 ABCA1 APOE
16 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
17 phospholipid efflux GO:0033700 9.57 ABCA1 APOE
18 lipoprotein biosynthetic process GO:0042158 9.56 ABCA1 APOE
19 sterol biosynthetic process GO:0016126 9.56 DHCR7 FDFT1 HMGCR HMGCS2
20 positive regulation of skeletal muscle tissue development GO:0048643 9.55 HMGCR SHH
21 chylomicron remnant clearance GO:0034382 9.54 APOE LDLR
22 regulation of Cdc42 protein signal transduction GO:0032489 9.51 ABCA1 APOE
23 cholesterol metabolic process GO:0008203 9.5 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2
24 lipoprotein catabolic process GO:0042159 9.48 APOE LDLR
25 steroid metabolic process GO:0008202 9.23 ABCA1 APOE DHCR7 FDFT1 HMGCR HMGCS2

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

id Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.16 ABCA1 APOE
2 NADP binding GO:0050661 8.96 DHCR7 HMGCR
3 cholesterol transporter activity GO:0017127 8.62 ABCA1 APOE

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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