SLOS
MCID: SMT004
MIFTS: 70

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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Slos 56 24 52 25 58 73
Rsh Syndrome 56 52 25 58 73
Rutledge Lethal Multiple Congenital Anomaly Syndrome 56 12 52 73
7-Dehydrocholesterol Reductase Deficiency 52 25 58 71
Slo Syndrome 56 52 25 73
Lethal Acrodysgenital Syndrome 56 52
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 52
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 56
Smith-Lemli-Opitz Syndrome, Type Ii 71
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14692
OMIM 56 270400
KEGG 36 H00161
MeSH 43 D019082
NCIt 49 C85071
SNOMED-CT 67 43929004
ICD10 32 E78.72
MESH via Orphanet 44 D019082
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0175694 C2713347
Orphanet 58 ORPHA818
SNOMED-CT via HPO 68 103276001 111266001 11296007 more
UMLS 71 C0175694 C0282644 C2713347

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 56 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 slos, is related to pseudohermaphroditism and hypercholesterolemia, familial, 1, and has symptoms including seizures, vomiting and constipation. 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 Ketorolac and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are intellectual disability and global developmental delay

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). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.

NIH Rare Diseases : 52 Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems. Individuals with SLOS have abnormally low levels of cholesterol in their blood and high levels of a chemical known as 7-dehydrocholestrol. The severity of symptoms varies from individual to individual. Many babies have feeding difficulties and growth issues. Some are born with heart, kidney, and adrenal problems. Most people with SLOS have some degree of intellectual and behavioral difficulties. This condition is caused by genetic changes (DNA variants ) in the DHCR7 gene and is inherited in an autosomal recessive pattern. This condition is diagnosed based on the features and laboratory and genetic testing . Treatment is based on the symptoms.

KEGG : 36 Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.

UniProtKB/Swiss-Prot : 73 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 : 74 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 253)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 31.2 STAR CYP19A1 CYP17A1
2 hypercholesterolemia, familial, 1 31.2 LDLR HMGCR APOE
3 inherited metabolic disorder 31.0 LDLR HMGCR APOE ABCA1
4 sitosterolemia 30.9 HMGCR FDFT1 CYP27A1 ABCA1
5 lipoid congenital adrenal hyperplasia 30.9 STAR CYP19A1 CYP17A1 CYP11A1
6 xanthomatosis 30.9 LDLR HMGCR CYP27A1 APOE ABCA1
7 disorders of sexual development 30.6 STAR CYP19A1 CYP17A1 CYP11A1
8 x-linked chondrodysplasia punctata 2 30.6 SC5D DHCR7 DHCR24
9 cryptorchidism, unilateral or bilateral 30.4 STS STAR CYP19A1 CYP17A1 CYP11A1
10 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.9
11 lathosterolosis 12.1
12 van buchem disease 11.8
13 greenberg dysplasia 11.7
14 opitz gbbb syndrome, type i 11.7
15 autosomal recessive disease 11.2
16 chromosome 2q35 duplication syndrome 11.1
17 cleft palate, isolated 11.0
18 microcephaly 11.0
19 polydactyly 11.0
20 alacrima, achalasia, and mental retardation syndrome 11.0
21 holoprosencephaly 10.9
22 retinal degeneration 10.9
23 cataract 10.9
24 hirschsprung disease 1 10.8
25 ptosis 10.8
26 hypospadias 10.8
27 autism spectrum disorder 10.8
28 heart septal defect 10.8
29 hypotonia 10.8
30 autism 10.8
31 pyloric stenosis 10.8
32 down syndrome 10.7
33 atrioventricular septal defect 10.7
34 oligohydramnios 10.7
35 pallister-hall syndrome 10.6
36 chondrodysplasia punctata syndrome 10.6
37 abnormal hair, joint laxity, and developmental delay 10.6
38 desmosterolosis 10.6
39 acid-labile subunit deficiency 10.6
40 hypothyroidism 10.6
41 malignant hyperthermia 10.6
42 chromosomal triplication 10.6
43 hypertelorism 10.5
44 split-hand/foot malformation 1 10.5
45 strabismus 10.5
46 renal hypodysplasia/aplasia 1 10.5
47 cerebrotendinous xanthomatosis 10.5
48 dandy-walker syndrome 10.5
49 hydrolethalus syndrome 1 10.5
50 late-onset retinal degeneration 10.5

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:

58 31 (show top 50) (show all 159)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
8 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
11 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
12 increased nuchal translucency 58 31 hallmark (90%) Very frequent (99-80%) HP:0010880
13 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
14 elevated 7-dehydrocholesterol 58 31 hallmark (90%) Very frequent (99-80%) HP:0010569
15 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
16 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
17 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
18 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
19 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
20 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
21 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
22 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
23 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
24 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
25 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
26 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
27 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
28 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
29 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
30 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
31 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
32 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
33 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
34 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
35 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
36 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
37 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
38 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
39 proximal placement of thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009623
40 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
41 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
42 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
43 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
44 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
45 abnormal lung lobation 58 31 frequent (33%) Frequent (79-30%) HP:0002101
46 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
47 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
48 tracheal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002777
49 abnormality of the larynx 58 31 frequent (33%) Frequent (79-30%) HP:0001600
50 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
ptosis
epicanthal folds
cataracts

Head And Neck Head:
microcephaly

Growth Height:
short stature

Abdomen Gastrointestinal:
vomiting
constipation
pyloric stenosis
poor suck
malrotation

Skeletal Feet:
metatarsus adductus
talipes calcaneovalgus
postaxial polydactyly
short, broad toes
syndactyly of second and third toes
more
Head And Neck Face:
micrognathia
bitemporal narrowing

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Head And Neck Teeth:
dental crowding
large central front teeth

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Prenatal Manifestations Movement:
decreased fetal movement

Genitourinary Ureters:
ureteropelvic junction obstruction

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

Neurologic Central Nervous System:
seizures
hydrocephalus
mental retardation
hypotonia (early infancy)
hypertonia (childhood)
more
Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Growth Other:
failure to thrive

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Cardiovascular Vascular:
coarctation of aorta
patent ductus arteriosus

Genitourinary External Genitalia Male:
micropenis
bifid scrotum
hypospadias
ambiguous genitalia
hypoplastic scrotum
more
Skeletal Pelvis:
hip dislocation
hip subluxation

Skin Nails Hair Skin:
eczema
facial capillary hemangioma
severe photosensitivity

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Prenatal Manifestations Delivery:
breech presentation

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, vomiting, constipation

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.07 CFL1
2 Decreased viability GR00055-A-2 10.07 CFL1
3 Decreased viability GR00106-A-0 10.07 DHCR7
4 Decreased viability GR00221-A-3 10.07 SHH
5 Decreased viability GR00249-S 10.07 CYP17A1 DHCR7 DHRS9 FDFT1 HMGCS2 NADSYN1
6 Decreased viability GR00381-A-1 10.07 DHCR7 STAR
7 Decreased viability GR00386-A-1 10.07 APOE DHCR24 NADSYN1 SC5D STAR STS
8 Decreased viability GR00402-S-2 10.07 ABCA1 DHCR7 LDLR SC5D STAR
9 Reduced mammosphere formation GR00396-S 9.23 CFL1 DHCR7 FDFT1 HMGCR LDLR NADSYN1
10 Decreased free cholesterol GR00340-A-2 9.16 ABCA1 LDLR

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

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
2 behavior/neurological MP:0005386 10.29 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
3 cardiovascular system MP:0005385 10.27 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
4 homeostasis/metabolism MP:0005376 10.25 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
5 mortality/aging MP:0010768 10.17 ABCA1 APOE CFL1 CYP11A1 CYP17A1 DHCR24
6 endocrine/exocrine gland MP:0005379 10.16 ABCA1 APOE CYP11A1 CYP19A1 CYP27A1 DHCR24
7 digestive/alimentary MP:0005381 10.13 ABCA1 APOE CYP19A1 CYP27A1 DHCR7 KCNMA1
8 adipose tissue MP:0005375 10.07 APOE CYP17A1 CYP19A1 CYP27A1 DHCR24 LDLR
9 liver/biliary system MP:0005370 10.07 ABCA1 APOE CYP11A1 CYP19A1 CYP27A1 DHCR7
10 nervous system MP:0003631 9.93 ABCA1 APOE CFL1 CYP11A1 CYP19A1 CYP27A1
11 muscle MP:0005369 9.86 ABCA1 APOE CYP11A1 CYP19A1 DHCR7 KCNMA1
12 renal/urinary system MP:0005367 9.61 ABCA1 APOE CFL1 CYP19A1 CYP27A1 DHCR7
13 reproductive system MP:0005389 9.4 ABCA1 APOE CYP11A1 CYP17A1 CYP19A1 DHCR24

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
4 Respiratory System Agents Phase 4
5 Ketorolac Tromethamine Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Hormones Phase 4
8 Anti-Asthmatic Agents Phase 4
9 Cyclooxygenase Inhibitors Phase 4
10 Hormone Antagonists Phase 4
11 Analgesics Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Betamethasone sodium phosphate Phase 4
14 Betamethasone Valerate Phase 4 2152-44-5
15 Betamethasone benzoate Phase 4
16 Betamethasone-17,21-dipropionate Phase 4
17 glucocorticoids Phase 4
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19
Simvastatin Approved Phase 2 79902-63-9 54454
20
tannic acid Approved Phase 1, Phase 2 1401-55-4
21
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
22
rituximab Approved Phase 2 174722-31-7 10201696
23
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
24 Phytosterol Phase 1, Phase 2
25 Anesthetics Phase 2
26 Antioxidants Phase 2
27 Protective Agents Phase 2
28 Gastrointestinal Agents Phase 1, Phase 2
29 Cholic Acids Phase 1, Phase 2
30 Antirheumatic Agents Phase 2
31 Immunoglobulins Phase 2
32 Antibodies Phase 2
33 Immunoglobulins, Intravenous Phase 2
34 Immunosuppressive Agents Phase 2
35 Rho(D) Immune Globulin Phase 2
36 gamma-Globulins Phase 2
37 Immunologic Factors Phase 2
38 Isoantibodies Phase 2
39 Thymoglobulin Phase 2
40 Antineoplastic Agents, Immunological Phase 2
41 Antilymphocyte Serum Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Randomized, Controlled, Equivalence Study Comparing Intra-articular Corticosteroid to Intra-articular Ketorolac Knee Injections Unknown status NCT02612272 Phase 4 Ketorolac;Betamethasone
2 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
5 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
6 Cholesterol in Autism Spectrum Disorder (ASD): Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
9 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
10 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
11 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
12 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
13 Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis Completed NCT01059201
14 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
15 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
16 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
17 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
18 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation 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 29 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

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

40
Lung, Kidney, Heart, Testes, T Cells, Brain, Liver

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50) (show all 896)
# Title Authors PMID Year
1
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. 56 24 6 61
20635399 2010
2
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. 61 56 24 6
10710236 2000
3
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. 61 6 56 54
17965227 2008
4
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 61 54 56 6
11562938 2001
5
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. 6 56 54 61
11298379 2001
6
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 54 6 56 61
11175299 2001
7
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. 61 54 6 56
10814720 2000
8
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. 54 6 56 61
9634533 1998
9
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 56 6 61
22211794 2012
10
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 24 54 56 61
15286151 2004
11
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 61 6 56
12949967 2003
12
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. 61 56 6
9714007 1998
13
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 56 6 61
9653161 1998
14
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 24 56 61
27513191 2017
15
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. 56 54 24
14735596 2004
16
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 61 24 6
14556255 2003
17
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. 24 56 61
9880216 1998
18
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 61 56 24
9024557 1997
19
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. 24 61 56
8559757 1995
20
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. 61 24 56
7608816 1995
21
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. 24 56 61
8209913 1994
22
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 61 56 24
8259166 1994
23
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 61 56 24
3812577 1987
24
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. 24 61 56
3018967 1985
25
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. 24 52 61
31005410 2019
26
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. 56 61 54
20067919 2010
27
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. 61 54 6
15952211 2005
28
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. 6 61 54
16044199 2005
29
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 54 61 6
15521979 2004
30
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. 6 24
12794707 2003
31
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. 6 54 61
11857552 2002
32
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 56 54 61
11745994 2001
33
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. 56 54 61
11471166 2001
34
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. 54 56 61
11161831 2001
35
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. 6 54 61
11078571 2000
36
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. 61 54 56
10951458 2000
37
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 54 6 61
9683613 1998
38
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. 61 54 56
8863875 1996
39
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. 54 61 56
7632194 1994
40
Micrognathia, polydactyly, and cleft palate. 24 56
5652614 1968
41
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 54 61 24
17441222 2007
42
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 56 61
16761297 2006
43
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. 56 61
16618793 2006
44
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. 61 56
16451140 2006
45
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 54 61 24
15670717 2005
46
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 24 54 61
14981719 2004
47
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 61 56
12668600 2003
48
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. 24 54 61
12224080 2002
49
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. 56 61
11230174 2001
50
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. 61 56
11167696 2001

Variations for Smith-Lemli-Opitz Syndrome

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

6 (show top 50) (show all 283) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHCR7 NM_001360.2(DHCR7):c.902A>G (p.His301Arg)SNV Pathogenic 595087 rs1565586067 11:71148919-71148919 11:71437873-71437873
2 DHCR7 NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)indel Pathogenic 652894 11:71146499-71146500 11:71435453-71435454
3 DHCR7 NM_001360.2(DHCR7):c.1A>C (p.Met1Leu)SNV Pathogenic 694691 11:71155998-71155998 11:71444952-71444952
4 DHCR7 NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)duplication Pathogenic 813485 11:71146771-71146772 11:71435725-71435726
5 DHCR7 NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter)SNV Pathogenic 813423 11:71150060-71150060 11:71439014-71439014
6 DHCR7 NM_001360.3(DHCR7):c.626+2dupduplication Pathogenic 813424 11:71152270-71152271 11:71441224-71441225
7 DHCR7 NM_001360.3(DHCR7):c.355del (p.His119fs)deletion Pathogenic 813425 11:71153366-71153366 11:71442320-71442320
8 DHCR7 NC_000011.10:g.(?_71441217)_(71441450_?)deldeletion Pathogenic 831165 11:71152263-71152496
9 DHCR7 NC_000011.10:g.(?_71441217)_(71444962_?)deldeletion Pathogenic 830646 11:71152263-71156008
10 DHCR7 NC_000011.10:g.(?_71443983)_(71444962_?)deldeletion Pathogenic 832024 11:71155029-71156008
11 DHCR7 NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)SNV Pathogenic 854086 11:71146524-71146524 11:71435478-71435478
12 DHCR7 NM_001360.2(DHCR7):c.832-1G>CSNV Pathogenic 6776 rs80338863 11:71148990-71148990 11:71437944-71437944
13 DHCR7 DHCR7, 96-BP DELdeletion Pathogenic 6777
14 DHCR7 DHCR7, 1-BP INS, 505Cinsertion Pathogenic 6778
15 DHCR7 DHCR7, 1-BP INS, 586Tinsertion Pathogenic 6779
16 DHCR7 NM_001360.2(DHCR7):c.356A>T (p.His119Leu)SNV Pathogenic 6780 rs28938174 11:71153365-71153365 11:71442319-71442319
17 DHCR7 NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg)SNV Pathogenic 6781 rs121909764 11:71150026-71150026 11:71438980-71438980
18 DHCR7 NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys)SNV Pathogenic 6782 rs104894212 11:71150012-71150012 11:71438966-71438966
19 DHCR7 NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter)SNV Pathogenic 6784 rs104894213 11:71152446-71152446 11:71441400-71441400
20 DHCR7 NM_001360.2(DHCR7):c.976G>T (p.Val326Leu)SNV Pathogenic 6785 rs80338859 11:71146873-71146873 11:71435827-71435827
21 DHCR7 DHCR7, TRP37TERSNV Pathogenic 6786
22 DHCR7 NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp)SNV Pathogenic 6787 rs80338860 11:71146795-71146795 11:71435749-71435749
23 DHCR7 NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys)SNV Pathogenic 6788 rs61757582 11:71146639-71146639 11:71435593-71435593
24 DHCR7 NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln)SNV Pathogenic 6795 rs121909768 11:71146794-71146794 11:71435748-71435748
25 DHCR7 NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser)SNV Pathogenic 21272 rs80338862 11:71146621-71146621 11:71435575-71435575
26 DHCR7 NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)SNV Pathogenic 21273 rs11555217 11:71152447-71152447 11:71441401-71441401
27 DHCR7 NM_001360.2(DHCR7):c.412+3A>TSNV Pathogenic 30278 rs786200926 11:71153306-71153306 11:71442260-71442260
28 DHCR7 NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser)SNV Pathogenic 93712 rs104886035 11:71155209-71155209 11:71444163-71444163
29 DHCR7 NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys)SNV Pathogenic/Likely pathogenic 6792 rs80338864 11:71146507-71146507 11:71435461-71435461
30 DHCR7 NM_001360.2(DHCR7):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 6794 rs104886033 11:71155998-71155998 11:71444952-71444952
31 DHCR7 NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 21275 rs80338856 11:71150032-71150032 11:71438986-71438986
32 DHCR7 NM_001163817.2(DHCR7):c.725G>A (p.Arg242His)SNV Pathogenic/Likely pathogenic 21276 rs80338857 11:71150031-71150031 11:71438985-71438985
33 DHCR7 NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu)SNV Pathogenic/Likely pathogenic 21277 rs80338858 11:71148915-71148915 11:71437869-71437869
34 DHCR7 NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile)SNV Pathogenic/Likely pathogenic 6789 rs121909765 11:71148955-71148955 11:71437909-71437909
35 DHCR7 NM_001360.3(DHCR7):c.964-1G>CSNV Pathogenic/Likely pathogenic 93725 rs138659167 11:71146886-71146886 11:71435840-71435840
36 DHCR7 NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr)SNV Pathogenic/Likely pathogenic 189069 rs779709646 11:71146710-71146710 11:71435664-71435664
37 DHCR7 NM_001360.2(DHCR7):c.461C>T (p.Thr154Met)SNV Pathogenic/Likely pathogenic 188923 rs143312232 11:71152438-71152438 11:71441392-71441392
38 DHCR7 NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter)SNV Pathogenic/Likely pathogenic 188723 rs104886039 11:71155068-71155068 11:71444022-71444022
39 DHCR7 NM_001360.2(DHCR7):c.1396G>A (p.Val466Met)SNV Pathogenic/Likely pathogenic 265097 rs760428437 11:71146453-71146453 11:71435407-71435407
40 DHCR7 NM_001360.2(DHCR7):c.740C>T (p.Ala247Val)SNV Pathogenic/Likely pathogenic 280065 rs886041354 11:71150016-71150016 11:71438970-71438970
41 DHCR7 NM_001360.2(DHCR7):c.964-1G>TSNV Pathogenic/Likely pathogenic 305956 rs138659167 11:71146886-71146886 11:71435840-71435840
42 DHCR7 NM_001360.2(DHCR7):c.1066del (p.His356fs)deletion Pathogenic/Likely pathogenic 370598 rs774291653 11:71146783-71146783 11:71435737-71435737
43 DHCR7 NM_001360.2(DHCR7):c.385_412+5deldeletion Pathogenic/Likely pathogenic 370449 rs746482788 11:71153304-71153336 11:71442258-71442290
44 DHCR7 NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp)SNV Pathogenic/Likely pathogenic 381657 rs777425801 11:71152459-71152459 11:71441413-71441413
45 DHCR7 NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met)SNV Pathogenic/Likely pathogenic 6783 rs80338853 11:71155082-71155082 11:71444036-71444036
46 DHCR7 NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter)SNV Pathogenic/Likely pathogenic 623647 rs1032242817 11:71152353-71152353 11:71441307-71441307
47 DHCR7 NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu)SNV Pathogenic/Likely pathogenic 587952 rs773134475 11:71146659-71146659 11:71435613-71435613
48 DHCR7 NM_001163817.2(DHCR7):c.296T>C (p.Leu99Pro)SNV Pathogenic/Likely pathogenic 553296 rs104886041 11:71155064-71155064 11:71444018-71444018
49 DHCR7 NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His)SNV Pathogenic/Likely pathogenic 397519 rs781687341 11:71146521-71146521 11:71435475-71435475
50 DHCR7 NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln)SNV Pathogenic/Likely pathogenic 431994 rs751604696 11:71146512-71146512 11:71435466-71435466

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

73 (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 rs155514647
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 rs155514606
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

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

7
# CNVD ID Chromosome 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:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 STS STAR SC5D NADSYN1 LDLR HMGCS2
2
Show member pathways
12.72 STAR LDLR KCNMA1 CYP17A1 CYP11A1
3 12.36 STAR HMGCS2 DHCR24 CYP19A1 CYP17A1 CYP11A1
4
Show member pathways
11.76 SC5D HMGCR FDFT1 DHCR7
5
Show member pathways
11.7 STAR CYP19A1 CYP17A1 CYP11A1
6
Show member pathways
11.69 SC5D HMGCS2 HMGCR FDFT1 DHCR7 DHCR24
7
Show member pathways
11.59 SC5D FDFT1 DHCR7 DHCR24
8 11.56 LDLR HMGCR FDFT1
9
Show member pathways
11.5 STS CYP19A1 CYP17A1 CYP11A1
10
Show member pathways
11.42 STS CYP19A1 CYP17A1
11 11.36 STAR LDLR CYP19A1 CYP17A1 CYP11A1
12
Show member pathways
11.24 STAR LDLR HMGCR FDFT1 CYP27A1 APOE
13 10.89 LDLR HMGCR ABCA1
14 10.54 DHCR7 CYP27A1
15 10.19 STS CYP19A1

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 10.19 STS SHH SC5D LDLR KCNMA1 HMGCR
2 endoplasmic reticulum GO:0005783 9.85 STS SC5D HMGCR FDFT1 DHRS9 DHCR7
3 intracellular membrane-bounded organelle GO:0043231 9.61 STS SC5D HMGCR FDFT1 DHRS9 DHCR7
4 organelle membrane GO:0031090 9.54 DHRS9 CYP19A1 CYP17A1
5 low-density lipoprotein particle GO:0034362 9.32 LDLR APOE
6 endoplasmic reticulum membrane GO:0005789 9.32 STS SC5D HMGCR FDFT1 DHRS9 DHCR7

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.06 SC5D HMGCR DHRS9 DHCR7 DHCR24 CYP27A1
2 cholesterol metabolic process GO:0008203 10 STAR LDLR HMGCS2 HMGCR FDFT1 DHCR7
3 steroid biosynthetic process GO:0006694 9.9 STAR SC5D HMGCS2 HMGCR FDFT1 DHCR7
4 lipid transport GO:0006869 9.86 STAR LDLR APOE ABCA1
5 cholesterol homeostasis GO:0042632 9.85 LDLR APOE ABCA1
6 regulation of lipid metabolic process GO:0019216 9.83 HMGCS2 HMGCR FDFT1 ABCA1
7 response to nutrient GO:0007584 9.82 STAR HMGCR ABCA1
8 regulation of cholesterol biosynthetic process GO:0045540 9.8 SC5D HMGCR FDFT1 DHCR7
9 sterol biosynthetic process GO:0016126 9.8 SC5D HMGCS2 HMGCR FDFT1 DHCR7 DHCR24
10 sterol metabolic process GO:0016125 9.78 DHCR24 CYP27A1 CYP19A1 CYP11A1
11 cholesterol biosynthetic process GO:0006695 9.77 HMGCS2 HMGCR FDFT1 DHCR7 DHCR24
12 lipid metabolic process GO:0006629 9.77 STS SC5D LDLR HMGCS2 HMGCR FDFT1
13 intermembrane lipid transfer GO:0120009 9.74 STAR APOE ABCA1
14 lipoprotein metabolic process GO:0042157 9.71 LDLR APOE ABCA1
15 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.7 LDLR ABCA1
16 regulation of neuronal synaptic plasticity GO:0048168 9.7 STAR APOE
17 lipid biosynthetic process GO:0008610 9.69 SC5D FDFT1
18 myoblast differentiation GO:0045445 9.69 SHH HMGCR
19 male genitalia development GO:0030539 9.69 SHH DHCR24
20 androgen metabolic process GO:0008209 9.69 SHH DHRS9 CYP19A1
21 positive regulation of cholesterol efflux GO:0010875 9.68 APOE ABCA1
22 reverse cholesterol transport GO:0043691 9.68 APOE ABCA1
23 regulation of cholesterol metabolic process GO:0090181 9.68 LDLR APOE
24 isoprenoid biosynthetic process GO:0008299 9.67 HMGCS2 HMGCR
25 high-density lipoprotein particle assembly GO:0034380 9.67 APOE ABCA1
26 estrogen biosynthetic process GO:0006703 9.67 STAR CYP19A1
27 phospholipid efflux GO:0033700 9.66 APOE ABCA1
28 cholesterol catabolic process GO:0006707 9.66 CYP27A1 APOE
29 C21-steroid hormone biosynthetic process GO:0006700 9.65 STAR CYP11A1
30 high-density lipoprotein particle clearance GO:0034384 9.65 LDLR APOE
31 intracellular cholesterol transport GO:0032367 9.65 STAR ABCA1
32 regulation of protein metabolic process GO:0051246 9.64 LDLR APOE
33 progesterone metabolic process GO:0042448 9.63 DHRS9 CYP17A1
34 glucocorticoid biosynthetic process GO:0006704 9.63 CYP17A1 CYP11A1
35 cholesterol biosynthetic process via lathosterol GO:0033490 9.63 SC5D DHCR7 DHCR24
36 chylomicron remnant clearance GO:0034382 9.62 LDLR APOE
37 positive regulation of skeletal muscle tissue development GO:0048643 9.62 SHH HMGCR
38 positive regulation by host of viral process GO:0044794 9.61 CFL1 APOE
39 regulation of Cdc42 protein signal transduction GO:0032489 9.61 APOE ABCA1
40 cholesterol biosynthetic process via desmosterol GO:0033489 9.61 SC5D DHCR7 DHCR24
41 testosterone biosynthetic process GO:0061370 9.6 STAR CYP19A1
42 lipoprotein biosynthetic process GO:0042158 9.59 APOE ABCA1
43 negative regulation of amyloid fibril formation GO:1905907 9.58 LDLR APOE
44 lipoprotein catabolic process GO:0042159 9.58 LDLR APOE
45 response to caloric restriction GO:0061771 9.55 LDLR APOE
46 steroid metabolic process GO:0008202 9.47 STS SC5D LDLR HMGCS2 HMGCR FDFT1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.67 CYP27A1 CYP19A1 CYP17A1 CYP11A1
2 monooxygenase activity GO:0004497 9.62 CYP27A1 CYP19A1 CYP17A1 CYP11A1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP27A1 CYP19A1 CYP17A1 CYP11A1
4 intermembrane cholesterol transfer activity GO:0120020 9.43 STAR APOE ABCA1
5 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 9.4 DHCR7 DHCR24
6 iron ion binding GO:0005506 9.35 SC5D CYP27A1 CYP19A1 CYP17A1 CYP11A1
7 oxidoreductase activity GO:0016491 9.28 SC5D HMGCR DHRS9 DHCR7 DHCR24 CYP27A1

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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