SLOS
MCID: SMT004
MIFTS: 69

Smith-Lemli-Opitz Syndrome (SLOS)

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

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Rsh Syndrome 58 25 54 26 60 76
Slos 58 25 54 26 60 76
Slo Syndrome 58 25 54 26 76
Rutledge Lethal Multiple Congenital Anomaly Syndrome 58 12 54 76
7-Dehydrocholesterol Reductase Deficiency 54 26 60 74
Lethal Acrodysgenital Syndrome 58 54
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 54
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 58
Smith-Lemli-Opitz Syndrome, Type Ii 74
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
estimated incidence 1/20,000 - 1/40,000


HPO:

33
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14692
OMIM 58 270400
KEGG 38 H00161
MeSH 45 D019082
NCIt 51 C85071
SNOMED-CT 69 43929004
ICD10 34 E78.72
MESH via Orphanet 46 D019082
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C0175694 C2713347
Orphanet 60 ORPHA818
SNOMED-CT via HPO 70 103276001 111266001 11296007 more

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 58 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). (270400)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to xanthomatosis and macular degeneration, age-related, 1, and has symptoms including seizures, constipation and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and skin, and related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive,... 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 77)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 30.1 APOE HMGCR LDLR
2 macular degeneration, age-related, 1 29.6 ABCA1 APOE KCNMA1
3 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.6
4 lathosterolosis 11.9
5 opitz gbbb syndrome, type i 11.7
6 van buchem disease 11.6
7 greenberg dysplasia 11.6
8 retinal degeneration 10.9
9 hirschsprung disease 1 10.7
10 autism 10.6
11 polydactyly 10.6
12 holoprosencephaly 10.6
13 heart disease 10.6
14 malignant hyperthermia 10.6
15 renal hypoplasia 10.4
16 pallister-hall syndrome 10.4
17 pancreas, annular 10.4
18 down syndrome 10.4
19 renal hypodysplasia/aplasia 1 10.4
20 cerebrotendinous xanthomatosis 10.4
21 chondrodysplasia punctata syndrome 10.4
22 hydrolethalus syndrome 1 10.4
23 pseudotrisomy 13 syndrome 10.4
24 chromosome 16p13.3 deletion syndrome, proximal 10.4
25 46,xy sex reversal 3 10.4
26 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
27 pulmonary hypertension 10.4
28 cataract 10.4
29 autism spectrum disorder 10.4
30 sclerocornea 10.4
31 mucolipidosis 10.4
32 cholestasis 10.4
33 polyneuropathy 10.4
34 hypothyroidism 10.4
35 germinoma 10.4
36 pseudohermaphroditism 10.4
37 achalasia 10.4
38 46, xy disorders of sexual development 10.4
39 5-alpha reductase deficiency 10.4
40 dwarfism 10.4
41 germ cells tumors 10.4
42 precocious puberty 10.4
43 pulmonary vein stenosis 10.4
44 mixed germ cell tumor 10.4
45 renal dysplasia 10.4
46 salla disease 10.1
47 macular holes 10.1
48 hyperlipoproteinemia, type v 10.1 APOE HMGCR
49 talipes equinovarus 10.0
50 sitosterolemia 10.0 FDFT1 HMGCR

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

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

60 33 (show top 50) (show all 158)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
7 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
8 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
9 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
11 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
12 increased nuchal translucency 60 33 hallmark (90%) Very frequent (99-80%) HP:0010880
13 2-3 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004691
14 elevated 7-dehydrocholesterol 60 33 hallmark (90%) Very frequent (99-80%) HP:0010569
15 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
16 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
17 self-injurious behavior 60 33 frequent (33%) Frequent (79-30%) HP:0100716
18 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
19 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
20 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
21 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
22 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
23 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
24 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
25 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
26 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
27 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
28 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
29 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
30 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
31 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
32 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
33 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
34 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
35 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
36 ventricular septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001629
37 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
38 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
39 tracheal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002777
40 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
41 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
42 proximal placement of thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009623
43 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
44 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
45 atrioventricular canal defect 60 33 frequent (33%) Frequent (79-30%) HP:0006695
46 pulmonary hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002089
47 cutis marmorata 60 33 frequent (33%) Frequent (79-30%) HP:0000965
48 abnormal lung lobation 60 33 frequent (33%) Frequent (79-30%) HP:0002101
49 excessive daytime somnolence 60 33 frequent (33%) Frequent (79-30%) HP:0001262
50 abnormality of the larynx 60 33 frequent (33%) Frequent (79-30%) HP:0001600

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Neurologic Central Nervous System:
hydrocephalus
seizures
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Abdomen Gastrointestinal:
constipation
vomiting
pyloric stenosis
poor suck
malrotation

Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Head And Neck Mouth:
cleft palate
hypoplastic tongue
broad alveolar margins

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta

Skeletal Feet:
metatarsus adductus
talipes calcaneovalgus
postaxial polydactyly
short, broad toes
syndactyly of second and third toes
more
Skeletal Pelvis:
hip dislocation
hip subluxation

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Skin Nails Hair Skin:
eczema
facial capillary hemangioma
severe photosensitivity

Genitourinary Ureters:
ureteropelvic junction obstruction

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
bifid scrotum
micropenis
hypoplastic scrotum
more
Head And Neck Teeth:
dental crowding
large central front teeth

Prenatal Manifestations Movement:
decreased fetal movement

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Respiratory Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Growth Weight:
birth weight <2500gm

Skin Nails Hair Hair:
blonde hair

Clinical features from OMIM:

270400

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


seizures, constipation, vomiting

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.46 ABCA1 APOE HMGCR LDLR
2 Reduced mammosphere formation GR00396-S 9.02 DHCR7 FDFT1 HMGCR LDLR SHH
3 Increased LDL uptake GR00340-A-1 8.96 APOE LDLR

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
2 behavior/neurological MP:0005386 10.02 APOE CYP11A1 DHCR7 FDFT1 KCNMA1 LDLR
3 cardiovascular system MP:0005385 10 ABCA1 APOE CYP11A1 DHCR7 KCNMA1 LDLR
4 mortality/aging MP:0010768 9.97 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
5 digestive/alimentary MP:0005381 9.91 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
6 liver/biliary system MP:0005370 9.91 ABCA1 APOE CYP11A1 DHCR7 HMGCR LDLR
7 muscle MP:0005369 9.8 ABCA1 APOE CYP11A1 DHCR7 KCNMA1 LDLR
8 nervous system MP:0003631 9.76 ABCA1 APOE CYP11A1 DHCR7 FDFT1 KCNMA1
9 renal/urinary system MP:0005367 9.35 ABCA1 APOE DHCR7 KCNMA1 SHH
10 reproductive system MP:0005389 9.1 ABCA1 APOE CYP11A1 FDFT1 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
2
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
3
tannic acid Approved Phase 1, Phase 2 1401-55-4
4 Phytosterol Phase 1, Phase 2,Not Applicable
5 Lipid Regulating Agents Phase 2,Not Applicable
6 Anticholesteremic Agents Phase 2,Not Applicable
7 Antimetabolites Phase 2,Not Applicable
8 Hypolipidemic Agents Phase 2,Not Applicable
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
10 Antioxidants Phase 2
11 Anesthetics Phase 2
12 Protective Agents Phase 2
13 Gastrointestinal Agents Phase 1, Phase 2
14 Cholic Acids Phase 1, Phase 2

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
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 crystalline cholesterol oil-based suspension
3 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
6 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
7 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
8 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
10 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
11 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
12 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
13 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
14 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
15 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:

# Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 30 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

42
Kidney, Eye, Skin, Bone, Tongue, Brain, Cerebellum

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50) (show all 481)
# Title Authors Year
1
Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome. ( 30674241 )
2019
2
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. ( 29455191 )
2018
3
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. ( 29979914 )
2018
4
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
5
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
6
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
7
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
8
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
9
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. ( 30360379 )
2018
10
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. ( 30092813 )
2018
11
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. ( 30114413 )
2018
12
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
13
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
14
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
15
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
16
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
17
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
18
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
19
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
20
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
21
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
22
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
23
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
24
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
25
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
26
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
27
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
28
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
29
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
30
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
31
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
32
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
33
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
34
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
35
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
36
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
37
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
38
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
39
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
40
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
41
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
42
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. ( 23896203 )
2014
43
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
44
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
45
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
46
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2014
47
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2014
48
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
49
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
50
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013

Variations for Smith-Lemli-Opitz Syndrome

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

76 (show top 50) (show all 53)
# 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 rs886041354
8 DHCR7 p.Trp248Cys VAR_012724 rs104894212
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 rs536394774
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 rs117370732
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 rs61757582
46 DHCR7 p.His405Tyr VAR_023178
47 DHCR7 p.Tyr408His VAR_023179 rs104656076
48 DHCR7 p.Gly410Arg VAR_023180 rs80338862
49 DHCR7 p.His426Pro VAR_023181 rs135471863
50 DHCR7 p.Arg443Cys VAR_023182 rs535561852

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

6 (show top 50) (show all 369)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
2 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
3 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh37 Chromosome 11, 71155234: 71155234
4 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh38 Chromosome 11, 71444188: 71444188
5 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh37 Chromosome 11, 71146757: 71146757
6 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh38 Chromosome 11, 71435711: 71435711
7 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh37 Chromosome 11, 71146841: 71146841
8 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh38 Chromosome 11, 71435795: 71435795
9 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
10 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh37 Chromosome 11, 71146423: 71146423
11 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
12 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh37 Chromosome 11, 71146710: 71146710
13 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
14 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
15 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
16 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh37 Chromosome 11, 71155068: 71155068
17 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
18 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh37 Chromosome 11, 71155249: 71155249
19 DHCR7 NM_001360.2(DHCR7): c.223A> T (p.Ile75Phe) single nucleotide variant Uncertain significance rs370748173 GRCh37 Chromosome 11, 71155137: 71155137
20 DHCR7 NM_001360.2(DHCR7): c.223A> T (p.Ile75Phe) single nucleotide variant Uncertain significance rs370748173 GRCh38 Chromosome 11, 71444091: 71444091
21 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh37 Chromosome 11, 71153345: 71153345
22 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh38 Chromosome 11, 71442299: 71442299
23 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh37 Chromosome 11, 71153322: 71153322
24 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh38 Chromosome 11, 71442276: 71442276
25 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh37 Chromosome 11, 71148914: 71148914
26 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh38 Chromosome 11, 71437868: 71437868
27 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
28 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh38 Chromosome 11, 71437944: 71437944
29 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
30 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
31 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
32 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
33 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh38 Chromosome 11, 71442319: 71442319
34 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
35 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh38 Chromosome 11, 71438980: 71438980
36 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
37 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh38 Chromosome 11, 71438966: 71438966
38 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
39 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh38 Chromosome 11, 71444036: 71444036
40 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
41 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh38 Chromosome 11, 71441400: 71441400
42 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
43 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh38 Chromosome 11, 71435827: 71435827
44 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
45 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
46 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh38 Chromosome 11, 71435749: 71435749
47 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
48 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh38 Chromosome 11, 71435593: 71435593
49 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
50 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Likely pathogenic rs121909765 GRCh38 Chromosome 11, 71437909: 71437909

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

7
# 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 KEGG:

38
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
2
Show member pathways
12.51 ABCA1 FDFT1 HMGCR HMGCS2
3 12.18 APOE CYP11A1 HMGCS2
4
Show member pathways
11.99 ABCA1 APOE LDLR
5
Show member pathways
11.53 DHCR7 FDFT1 HMGCR
6
Show member pathways
11.51 DHCR7 FDFT1 HMGCR HMGCS2
7 11.3 FDFT1 HMGCR LDLR
8 11.18 CYP11A1 LDLR
9
Show member pathways
11.09 ABCA1 APOE FDFT1 HMGCR LDLR
10 10.96 APOE LDLR
11
Show member pathways
10.87 FDFT1 HMGCR
12 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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
2 endoplasmic reticulum GO:0005783 9.77 APOE DHCR7 FDFT1 HMGCR STS
3 endoplasmic reticulum lumen GO:0005788 9.58 APOE SHH STS
4 endoplasmic reticulum membrane GO:0005789 9.55 ABCA1 DHCR7 FDFT1 HMGCR STS
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.32 APOE LDLR
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 34)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.83 APOE LDLR SHH
2 lipid metabolic process GO:0006629 9.81 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
3 lipid transport GO:0006869 9.79 ABCA1 APOE LDLR
4 cholesterol homeostasis GO:0042632 9.74 ABCA1 APOE LDLR
5 regulation of lipid metabolic process GO:0019216 9.73 ABCA1 FDFT1 HMGCR HMGCS2
6 steroid biosynthetic process GO:0006694 9.72 CYP11A1 DHCR7 FDFT1 HMGCR HMGCS2
7 regulation of cholesterol biosynthetic process GO:0045540 9.67 DHCR7 FDFT1 HMGCR
8 sterol biosynthetic process GO:0016126 9.67 DHCR7 FDFT1 HMGCR HMGCS2
9 phospholipid transport GO:0015914 9.66 ABCA1 LDLR
10 negative regulation of MAP kinase activity GO:0043407 9.65 APOE HMGCR
11 long-term memory GO:0007616 9.65 APOE LDLR
12 cholesterol transport GO:0030301 9.65 ABCA1 LDLR
13 cholesterol biosynthetic process GO:0006695 9.65 APOE DHCR7 FDFT1 HMGCR HMGCS2
14 cholesterol efflux GO:0033344 9.64 ABCA1 APOE
15 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.63 ABCA1 LDLR
16 myoblast differentiation GO:0045445 9.63 HMGCR SHH
17 lipoprotein metabolic process GO:0042157 9.63 ABCA1 APOE LDLR
18 reverse cholesterol transport GO:0043691 9.62 ABCA1 APOE
19 positive regulation of cholesterol efflux GO:0010875 9.61 ABCA1 APOE
20 regulation of cholesterol metabolic process GO:0090181 9.61 APOE LDLR
21 steroid metabolic process GO:0008202 9.61 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
22 high-density lipoprotein particle assembly GO:0034380 9.6 ABCA1 APOE
23 phospholipid efflux GO:0033700 9.59 ABCA1 APOE
24 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
25 high-density lipoprotein particle clearance GO:0034384 9.58 APOE LDLR
26 isoprenoid biosynthetic process GO:0008299 9.58 FDFT1 HMGCR HMGCS2
27 positive regulation of skeletal muscle tissue development GO:0048643 9.56 HMGCR SHH
28 chylomicron remnant clearance GO:0034382 9.55 APOE LDLR
29 regulation of Cdc42 protein signal transduction GO:0032489 9.54 ABCA1 APOE
30 lipoprotein biosynthetic process GO:0042158 9.52 ABCA1 APOE
31 lipoprotein catabolic process GO:0042159 9.51 APOE LDLR
32 response to caloric restriction GO:0061771 9.48 APOE LDLR
33 positive regulation of endocytosis GO:0045807 9.34 APOE
34 cholesterol metabolic process GO:0008203 9.23 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.26 ABCA1 APOE
2 NADP binding GO:0050661 9.16 DHCR7 HMGCR
3 lipid transporter activity GO:0005319 8.96 ABCA1 APOE
4 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....