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 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 39 70
Slos 57 25 20 43 58 72
Rsh Syndrome 57 20 43 58 72
Rutledge Lethal Multiple Congenital Anomaly Syndrome 57 12 20 72
7-Dehydrocholesterol Reductase Deficiency 20 43 58 70
Slo Syndrome 57 20 43 72
Lethal Acrodysgenital Syndrome 57 20
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 20
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 57
Smith-Lemli-Opitz Syndrome, Type Ii 70
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 20

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®:

57 (Updated 05-Apr-2021)
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® 57 270400
KEGG 36 H00161
MeSH 44 D019082
NCIt 50 C85071
SNOMED-CT 67 43929004
ICD10 32 E78.72
MESH via Orphanet 45 D019082
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 71 C0175694 C2713347
Orphanet 58 ORPHA818
SNOMED-CT via HPO 68 103276001 111266001 11296007 more
UMLS 70 C0175694 C0282644 C2713347

Summaries for Smith-Lemli-Opitz Syndrome

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as slos, is related to inherited metabolic disorder and pseudohermaphroditism, 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 Nicotinamide and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include lung, eye and kidney, and related phenotypes are intellectual disability and global developmental delay

MedlinePlus Genetics : 43 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.

GARD : 20 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 : 72 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 : 73 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 223)
# Related Disease Score Top Affiliating Genes
1 inherited metabolic disorder 30.9 HMGCR APOE ABCA1
2 pseudohermaphroditism 30.8 STAR CYP19A1 CYP17A1 CYP11A1
3 x-linked chondrodysplasia punctata 2 30.7 MSMO1 DHCR7
4 xanthomatosis 30.7 LDLR HMGCR CYP27A1 APOE ABCA1
5 hypercholesterolemia, familial, 1 30.7 LDLR HMGCR APOE
6 lipoid congenital adrenal hyperplasia 30.6 STAR CYP19A1 CYP17A1 CYP11A1
7 sitosterolemia 30.6 HMGCR FDFT1 CYP27A1 ABCA1
8 disorder of sexual development 30.4 STAR CYP19A1 CYP17A1 CYP11A1
9 cryptorchidism, unilateral or bilateral 30.1 STS STAR SHH CYP19A1 CYP17A1 CYP11A1
10 opitz gbbb syndrome, type i 11.6
11 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.5
12 van buchem disease 11.4
13 lathosterolosis 11.4
14 greenberg dysplasia 11.4
15 autosomal recessive disease 11.0
16 chromosome 2q35 duplication syndrome 11.0
17 cleft palate, isolated 10.9
18 microcephaly 10.9
19 alacrima, achalasia, and mental retardation syndrome 10.8
20 polydactyly 10.8
21 retinal degeneration 10.8
22 holoprosencephaly 10.7
23 cataract 10.7
24 hirschsprung disease 1 10.6
25 ptosis 10.6
26 hypospadias 10.6
27 autism spectrum disorder 10.6
28 heart septal defect 10.6
29 hypotonia 10.6
30 pyloric stenosis 10.6
31 down syndrome 10.5
32 autism 10.5
33 atrioventricular septal defect 10.5
34 oligohydramnios 10.5
35 chondrodysplasia punctata syndrome 10.4
36 abnormal hair, joint laxity, and developmental delay 10.4
37 desmosterolosis 10.4
38 acid-labile subunit deficiency 10.4
39 hypothyroidism 10.4
40 malignant hyperthermia 10.4
41 chromosomal triplication 10.4
42 hypercholesterolemia, familial, 2 10.4 LDLR APOE
43 coronary heart disease 5 10.4 LDLR ABCA1
44 hypertelorism 10.3
45 pallister-hall syndrome 10.3
46 split-hand/foot malformation 1 10.3
47 strabismus 10.3
48 renal hypodysplasia/aplasia 1 10.3
49 cerebrotendinous xanthomatosis 10.3
50 late-onset retinal degeneration 10.3

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 160)
# 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 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
7 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
10 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
11 increased nuchal translucency 58 31 hallmark (90%) Very frequent (99-80%) HP:0010880
12 2-3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004691
13 elevated 7-dehydrocholesterol 58 31 hallmark (90%) Very frequent (99-80%) HP:0010569
14 hypotonia 31 hallmark (90%) HP:0001252
15 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
16 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
17 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
18 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
19 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
20 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
21 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
22 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
23 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
24 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
25 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
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 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
35 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
36 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
37 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
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®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
mental retardation
hypotonia (early infancy)
hypertonia (childhood)
more
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
epicanthal folds
cataracts

Head And Neck Head:
microcephaly

Growth Height:
short stature

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

Growth Other:
failure to thrive

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

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 (Updated 05-Apr-2021)

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.28 CFL1 DHCR7 FDFT1 HMGCR LDLR MSMO1
2 Decreased free cholesterol GR00340-A-2 8.96 ABCA1 LDLR

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
2 cardiovascular system MP:0005385 10.2 ABCA1 APOE CFL1 CYP11A1 CYP17A1 CYP19A1
3 digestive/alimentary MP:0005381 10.03 ABCA1 APOE CYP19A1 CYP27A1 DHCR7 KCNMA1
4 adipose tissue MP:0005375 10.02 APOE CYP17A1 CYP19A1 CYP27A1 KCNMA1 LDLR
5 liver/biliary system MP:0005370 9.97 ABCA1 APOE CYP11A1 CYP19A1 CYP27A1 DHCR7
6 nervous system MP:0003631 9.9 ABCA1 APOE CFL1 CYP11A1 CYP19A1 CYP27A1
7 muscle MP:0005369 9.86 ABCA1 APOE CYP11A1 CYP19A1 DHCR7 KCNMA1
8 hearing/vestibular/ear MP:0005377 9.85 APOE CYP17A1 CYP19A1 KCNMA1 LDLR SHH
9 renal/urinary system MP:0005367 9.56 ABCA1 APOE CFL1 CYP19A1 CYP27A1 DHCR7
10 reproductive system MP:0005389 9.36 ABCA1 APOE CYP11A1 CYP17A1 CYP19A1 FDFT1

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Atorvastatin Approved Phase 4 134523-00-5 60823
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
6 Anticholesteremic Agents Phase 4
7 Antimetabolites Phase 4
8 Lipid Regulating Agents Phase 4
9 Hypolipidemic Agents Phase 4
10 Vitamin B9 Phase 4
11 Trace Elements Phase 4
12 Nutrients Phase 4
13 Micronutrients Phase 4
14 Folate Phase 4
15 Vitamin B Complex Phase 4
16 Vitamins Phase 4
17 Vitamin B3 Phase 4
18 Nicotinic Acids Phase 4
19 Vasodilator Agents Phase 4
20
Ranibizumab Approved Phase 3 347396-82-1 459903
21 Angiogenesis Inhibitors Phase 3
22
tannic acid Approved Phase 1, Phase 2 1401-55-4
23
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
24 Protective Agents Phase 2
25 Antioxidants Phase 2
26 Anesthetics Phase 2
27 Cholic Acids Phase 1, Phase 2
28 Gastrointestinal Agents Phase 1, Phase 2
29
Simvastatin Approved 79902-63-9 54454
30 Ionophores
31 Calcium Ionophores
32 Calcium, Dietary
33 Phytosterol
34
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 SLIM: Combined Effects of Slo-Niacin and Atorvastatin on Lipoproteins and Inflammatory Markers Completed NCT00194402 Phase 4 Slo-Niacin, atorvastatin
2 Serial Retinal Thickness Changes And Scotoma Size Measured With Lucentis Therapy Measured Using The Optical Coherence Tomography (OCT) Scanning Laser Ophthalmoscope (SLO) And The Foresee Preferential Hyperacuity Perimeter Unknown status NCT01255774 Phase 3 ranibizumab
3 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
4 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
6 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
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 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
10 Side-by-Side Comparison of P200TE and Spectral OCT/SLO on Diseased Eyes Unknown status NCT02921568
11 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
12 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
13 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
14 Qualitative OCT Image Grading Study Comparing the P200TE and the P200TxE in Glaucoma Patients Completed NCT03912584
15 Comparison of a Spectral OCT/SLO With the Stratus OCT for Imaging Various Retinal Pathologies Completed NCT00408720
16 Measuring Cyclotorsion on Scanning Laser Ophthalmoscopy (SLO)-Fundus Photographs Using the Integrated Algorithm by Heidelberg Spectralis Completed NCT02631369
17 Evaluation of the Precision of the Microperimetry Function of the Spectral OCT/SLO Completed NCT01692938
18 Comparative Study of the Nidek Optical Coherence Tomography RS-3000 and the RTVue OCT Predicate Device for the Measurements of Retinal and RNFL Thickness, Optic Disc Analysis, Pachymetry, Anterior Chamber Imaging and SLO Imaging. Completed NCT01384487
19 Optos P200TE Agreement and Precision Study Completed NCT03868462
20 Navigated Peripheral OCT Imaging With the P200TxE Completed NCT04003831
21 Gamete Treatment to Correct Fertilization Failure Recruiting NCT01944332
22 Bimodal and Coaxial High Resolution Ophtalmic Imaging Recruiting NCT04620876
23 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
24 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
25 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, Eye, Kidney, Tongue, Brain, Heart, Liver

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(show top 50) (show all 929)
# Title Authors PMID Year
1
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 25 57 6 61
27513191 2017
2
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. 6 61 25 57
20635399 2010
3
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. 57 25 6 61
10710236 2000
4
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. 61 6 57 54
17965227 2008
5
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 54 61 6 57
11745994 2001
6
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 54 61 6 57
11562938 2001
7
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. 6 57 61 54
11298379 2001
8
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. 54 61 57 6
11161831 2001
9
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 61 54 57 6
11175299 2001
10
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. 54 61 6 57
10814720 2000
11
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. 57 6 61 54
9634533 1998
12
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 61 6 57
22211794 2012
13
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 25 6 61 54
17441222 2007
14
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 6 25 54 61
15670717 2005
15
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 61 54 25 57
15286151 2004
16
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 6 25 54 61
14981719 2004
17
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 61 57 6
12949967 2003
18
Biochemical variants of Smith-Lemli-Opitz syndrome. 61 57 6
10405455 1999
19
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. 61 6 57
9714006 1998
20
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. 61 57 6
9714007 1998
21
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 6 61 57
9653161 1998
22
Normal IQ is possible in Smith-Lemli-Opitz syndrome. 25 6 61
28349652 2017
23
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 25 6 61
23918729 2013
24
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 6 57
22975760 2013
25
Mutational spectrum of Smith-Lemli-Opitz syndrome. 61 25 6
23042628 2012
26
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 61 25 6
22438180 2012
27
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. 25 6 61
22226660 2012
28
Adrenal function in Smith-Lemli-Opitz syndrome. 61 25 6
21990131 2011
29
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. 61 25 6
20104611 2010
30
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. 25 6 61
18076100 2008
31
Recent insights into the Smith-Lemli-Opitz syndrome. 61 6 20
16207203 2005
32
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. 54 57 25
14735596 2004
33
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 25 6 61
14556255 2003
34
Mutations in the human DHCR7 gene. 6 25 61
11241839 2001
35
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. 57 61 25
9880216 1998
36
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 61 57 25
9024557 1997
37
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. 57 25 61
8559757 1995
38
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. 61 57 25
7608816 1995
39
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. 57 25 61
8209913 1994
40
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 61 57 25
8259166 1994
41
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. 61 57 25
7684480 1993
42
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 25 57 61
3812577 1987
43
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. 57 25 61
3018967 1985
44
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. 25 20 61
31005410 2019
45
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6 25
22382802 2012
46
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. 57 61 54
20067919 2010
47
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. 61 54 6
20052364 2010
48
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. 6 61 54
20014133 2010
49
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. 54 6 61
19390132 2009
50
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. 54 6 61
18249054 2008

Variations for Smith-Lemli-Opitz Syndrome

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

6 (show top 50) (show all 322)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHCR7 NM_001360.2(DHCR7):c.832-1G>C SNV Pathogenic 6776 rs80338863 GRCh37: 11:71148990-71148990
GRCh38: 11:71437944-71437944
2 DHCR7 DHCR7, 96-BP DEL Deletion Pathogenic 6777 GRCh37:
GRCh38:
3 DHCR7 DHCR7, 1-BP INS, 505C Insertion Pathogenic 6778 GRCh37:
GRCh38:
4 DHCR7 DHCR7, 1-BP INS, 586T Insertion Pathogenic 6779 GRCh37:
GRCh38:
5 DHCR7 NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) SNV Pathogenic 6781 rs121909764 GRCh37: 11:71150026-71150026
GRCh38: 11:71438980-71438980
6 DHCR7 NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) SNV Pathogenic 6782 rs104894212 GRCh37: 11:71150012-71150012
GRCh38: 11:71438966-71438966
7 DHCR7 NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) SNV Pathogenic 6784 rs104894213 GRCh37: 11:71152446-71152446
GRCh38: 11:71441400-71441400
8 DHCR7 DHCR7, TRP37TER SNV Pathogenic 6786 GRCh37:
GRCh38:
9 DHCR7 NM_001360.2(DHCR7):c.412+3A>T SNV Pathogenic 30278 rs786200926 GRCh37: 11:71153306-71153306
GRCh38: 11:71442260-71442260
10 DHCR7 NM_001360.2(DHCR7):c.1A>C (p.Met1Leu) SNV Pathogenic 694691 rs104886033 GRCh37: 11:71155998-71155998
GRCh38: 11:71444952-71444952
11 DHCR7 NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) SNV Pathogenic 587952 rs773134475 GRCh37: 11:71146659-71146659
GRCh38: 11:71435613-71435613
12 DHCR7 NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) SNV Pathogenic 813423 rs1591109892 GRCh37: 11:71150060-71150060
GRCh38: 11:71439014-71439014
13 DHCR7 NM_001360.3(DHCR7):c.626+2dup Duplication Pathogenic 813424 rs1591111319 GRCh37: 11:71152270-71152271
GRCh38: 11:71441224-71441225
14 DHCR7 NM_001360.3(DHCR7):c.355del (p.His119fs) Deletion Pathogenic 813425 rs747827699 GRCh37: 11:71153366-71153366
GRCh38: 11:71442320-71442320
15 DHCR7 NM_001360.3(DHCR7):c.1325A>G (p.His442Arg) SNV Pathogenic 854086 GRCh37: 11:71146524-71146524
GRCh38: 11:71435478-71435478
16 DHCR7 NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) Duplication Pathogenic 813485 rs1318653026 GRCh37: 11:71146771-71146772
GRCh38: 11:71435725-71435726
17 DHCR7 NC_000011.10:g.(?_71441217)_(71444962_?)del Deletion Pathogenic 830646 GRCh37: 11:71152263-71156008
GRCh38:
18 DHCR7 NC_000011.10:g.(?_71441217)_(71441450_?)del Deletion Pathogenic 831165 GRCh37: 11:71152263-71152496
GRCh38:
19 DHCR7 NC_000011.10:g.(?_71443983)_(71444962_?)del Deletion Pathogenic 832024 GRCh37: 11:71155029-71156008
GRCh38:
20 DHCR7 NM_001360.3(DHCR7):c.89del (p.Gly30fs) Deletion Pathogenic 970420 GRCh37: 11:71155910-71155910
GRCh38: 11:71444864-71444864
21 DHCR7 NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) SNV Pathogenic 488492 rs753960624 GRCh37: 11:71152429-71152429
GRCh38: 11:71441383-71441383
22 DHCR7 NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) SNV Pathogenic 6785 rs80338859 GRCh37: 11:71146873-71146873
GRCh38: 11:71435827-71435827
23 DHCR7 NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) SNV Pathogenic 6788 rs61757582 GRCh37: 11:71146639-71146639
GRCh38: 11:71435593-71435593
24 DHCR7 NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) SNV Pathogenic 633186 rs749076525 GRCh37: 11:71150105-71150105
GRCh38: 11:71439059-71439059
25 DHCR7 NM_001360.2(DHCR7):c.356A>T (p.His119Leu) SNV Pathogenic 6780 rs28938174 GRCh37: 11:71153365-71153365
GRCh38: 11:71442319-71442319
26 DHCR7 NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) SNV Pathogenic 6787 rs80338860 GRCh37: 11:71146795-71146795
GRCh38: 11:71435749-71435749
27 DHCR7 NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) SNV Pathogenic 6789 rs121909765 GRCh37: 11:71148955-71148955
GRCh38: 11:71437909-71437909
28 DHCR7 NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) SNV Pathogenic 6795 rs121909768 GRCh37: 11:71146794-71146794
GRCh38: 11:71435748-71435748
29 DHCR7 NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) SNV Pathogenic 21272 rs80338862 GRCh37: 11:71146621-71146621
GRCh38: 11:71435575-71435575
30 DHCR7 NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) SNV Pathogenic 93712 rs104886035 GRCh37: 11:71155209-71155209
GRCh38: 11:71444163-71444163
31 DHCR7 NM_001360.2(DHCR7):c.841G>A (p.Val281Met) SNV Pathogenic 93724 rs398123607 GRCh37: 11:71148980-71148980
GRCh38: 11:71437934-71437934
32 DHCR7 NM_001360.2(DHCR7):c.902A>G (p.His301Arg) SNV Pathogenic 595087 rs1565586067 GRCh37: 11:71148919-71148919
GRCh38: 11:71437873-71437873
33 DHCR7 NM_001360.2(DHCR7):c.963+1G>T SNV Pathogenic/Likely pathogenic 371059 rs1057516973 GRCh37: 11:71148857-71148857
GRCh38: 11:71437811-71437811
34 DHCR7 NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) SNV Pathogenic/Likely pathogenic 166988 rs143312232 GRCh37: 11:71152438-71152438
GRCh38: 11:71441392-71441392
35 DHCR7 NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) SNV Pathogenic/Likely pathogenic 6792 rs80338864 GRCh37: 11:71146507-71146507
GRCh38: 11:71435461-71435461
36 DHCR7 NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) SNV Pathogenic/Likely pathogenic 6794 rs104886033 GRCh37: 11:71155998-71155998
GRCh38: 11:71444952-71444952
37 DHCR7 NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) SNV Pathogenic/Likely pathogenic 21273 rs11555217 GRCh37: 11:71152447-71152447
GRCh38: 11:71441401-71441401
38 DHCR7 NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) SNV Pathogenic/Likely pathogenic 189069 rs779709646 GRCh37: 11:71146710-71146710
GRCh38: 11:71435664-71435664
39 DHCR7 NM_001360.3(DHCR7):c.964-1G>C SNV Pathogenic/Likely pathogenic 93725 rs138659167 GRCh37: 11:71146886-71146886
GRCh38: 11:71435840-71435840
40 DHCR7 NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) SNV Pathogenic/Likely pathogenic 6783 rs80338853 GRCh37: 11:71155082-71155082
GRCh38: 11:71444036-71444036
41 DHCR7 NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) SNV Pathogenic/Likely pathogenic 21275 rs80338856 GRCh37: 11:71150032-71150032
GRCh38: 11:71438986-71438986
42 DHCR7 NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) SNV Pathogenic/Likely pathogenic 188723 rs104886039 GRCh37: 11:71155068-71155068
GRCh38: 11:71444022-71444022
43 DHCR7 NM_001360.2(DHCR7):c.385_412+5del Deletion Pathogenic/Likely pathogenic 370449 rs746482788 GRCh37: 11:71153304-71153336
GRCh38: 11:71442258-71442290
44 DHCR7 NM_001360.2(DHCR7):c.1066del (p.His356fs) Deletion Pathogenic/Likely pathogenic 370598 rs774291653 GRCh37: 11:71146783-71146783
GRCh38: 11:71435737-71435737
45 DHCR7 NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) Indel Pathogenic/Likely pathogenic 652894 rs1591107040 GRCh37: 11:71146499-71146500
GRCh38: 11:71435453-71435454
46 DHCR7 NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) SNV Pathogenic/Likely pathogenic 21276 rs80338857 GRCh37: 11:71150031-71150031
GRCh38: 11:71438985-71438985
47 DHCR7 NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) SNV Pathogenic/Likely pathogenic 21277 rs80338858 GRCh37: 11:71148915-71148915
GRCh38: 11:71437869-71437869
48 DHCR7 NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) SNV Pathogenic/Likely pathogenic 188923 rs143312232 GRCh37: 11:71152438-71152438
GRCh38: 11:71441392-71441392
49 DHCR7 NM_001163817.2(DHCR7):c.964-1G>T SNV Pathogenic/Likely pathogenic 305956 rs138659167 GRCh37: 11:71146886-71146886
GRCh38: 11:71435840-71435840
50 DHCR7 NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) SNV Pathogenic/Likely pathogenic 265097 rs760428437 GRCh37: 11:71146453-71146453
GRCh38: 11:71435407-71435407

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

72 (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
13.71 STS STAR NADSYN1 MSMO1 LDLR HMGCS2
2
Show member pathways
12.72 STAR LDLR KCNMA1 CYP17A1 CYP11A1
3 12.29 STAR HMGCS2 CYP19A1 CYP17A1 CYP11A1 APOE
4
Show member pathways
11.71 MSMO1 HMGCS2 HMGCR FDFT1 DHCR7
5
Show member pathways
11.7 HMGCR FDFT1 DHCR7
6
Show member pathways
11.61 STAR CYP19A1 CYP17A1 CYP11A1
7
Show member pathways
11.57 MSMO1 FDFT1 DHCR7
8 11.53 LDLR HMGCR FDFT1
9
Show member pathways
11.5 STS CYP19A1 CYP17A1 CYP11A1
10
Show member pathways
11.39 STS CYP19A1 CYP17A1
11
Show member pathways
11.24 STAR LDLR HMGCR FDFT1 CYP27A1 APOE
12 11.06 STAR LDLR CYP19A1 CYP17A1 CYP11A1
13 10.89 LDLR HMGCR ABCA1
14 10.52 DHCR7 CYP27A1
15 10.16 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 10.16 STS SHH MSMO1 LDLR KCNMA1 HMGCR
2 endoplasmic reticulum GO:0005783 9.81 STS MSMO1 HMGCR FDFT1 DHRS9 DHCR7
3 intracellular membrane-bounded organelle GO:0043231 9.56 STS HMGCR FDFT1 DHRS9 DHCR7 CYP19A1
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 9.28 STS MSMO1 HMGCR FDFT1 DHRS9 DHCR7

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.03 STS MSMO1 LDLR HMGCS2 HMGCR FDFT1
2 oxidation-reduction process GO:0055114 10.01 MSMO1 HMGCR DHRS9 DHCR7 CYP27A1 CYP19A1
3 steroid biosynthetic process GO:0006694 9.85 STAR MSMO1 HMGCS2 HMGCR FDFT1 DHCR7
4 lipid transport GO:0006869 9.84 STAR LDLR APOE ABCA1
5 response to nutrient GO:0007584 9.8 STAR HMGCR ABCA1
6 response to nutrient levels GO:0031667 9.8 STAR HMGCR ABCA1
7 cholesterol homeostasis GO:0042632 9.78 LDLR HMGCR APOE ABCA1
8 cholesterol biosynthetic process GO:0006695 9.77 MSMO1 HMGCS2 HMGCR FDFT1 DHCR7
9 regulation of lipid metabolic process GO:0019216 9.73 HMGCS2 HMGCR FDFT1 ABCA1
10 intermembrane lipid transfer GO:0120009 9.72 STAR APOE ABCA1
11 sterol biosynthetic process GO:0016126 9.72 MSMO1 HMGCS2 HMGCR FDFT1 DHCR7
12 regulation of cholesterol biosynthetic process GO:0045540 9.7 HMGCR FDFT1 DHCR7
13 cholesterol metabolic process GO:0008203 9.7 STAR MSMO1 LDLR HMGCS2 HMGCR FDFT1
14 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.69 LDLR ABCA1
15 lipid biosynthetic process GO:0008610 9.69 MSMO1 FDFT1
16 positive regulation of cholesterol efflux GO:0010875 9.68 APOE ABCA1
17 regulation of neuronal synaptic plasticity GO:0048168 9.68 STAR APOE
18 myoblast differentiation GO:0045445 9.68 SHH HMGCR
19 reverse cholesterol transport GO:0043691 9.68 APOE ABCA1
20 androgen metabolic process GO:0008209 9.67 SHH DHRS9
21 isoprenoid biosynthetic process GO:0008299 9.67 HMGCS2 HMGCR
22 regulation of cholesterol metabolic process GO:0090181 9.67 LDLR APOE
23 sterol metabolic process GO:0016125 9.67 CYP27A1 CYP19A1 CYP11A1
24 high-density lipoprotein particle assembly GO:0034380 9.66 APOE ABCA1
25 intracellular cholesterol transport GO:0032367 9.66 STAR ABCA1
26 estrogen biosynthetic process GO:0006703 9.65 STAR CYP19A1
27 negative regulation of amyloid fibril formation GO:1905907 9.65 LDLR APOE
28 phospholipid efflux GO:0033700 9.65 APOE ABCA1
29 C21-steroid hormone biosynthetic process GO:0006700 9.64 STAR CYP11A1
30 regulation of protein metabolic process GO:0051246 9.64 LDLR APOE
31 cholesterol catabolic process GO:0006707 9.63 CYP27A1 APOE
32 lipoprotein metabolic process GO:0042157 9.63 LDLR APOE ABCA1
33 progesterone metabolic process GO:0042448 9.62 DHRS9 CYP17A1
34 high-density lipoprotein particle clearance GO:0034384 9.61 LDLR APOE
35 glucocorticoid biosynthetic process GO:0006704 9.61 CYP17A1 CYP11A1
36 positive regulation of skeletal muscle tissue development GO:0048643 9.6 SHH HMGCR
37 positive regulation by host of viral process GO:0044794 9.59 CFL1 APOE
38 chylomicron remnant clearance GO:0034382 9.58 LDLR APOE
39 regulation of Cdc42 protein signal transduction GO:0032489 9.58 APOE ABCA1
40 lipoprotein catabolic process GO:0042159 9.57 LDLR APOE
41 lipoprotein biosynthetic process GO:0042158 9.56 APOE ABCA1
42 response to caloric restriction GO:0061771 9.51 LDLR APOE
43 steroid metabolic process GO:0008202 9.44 STS MSMO1 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 9.56 CYP27A1 CYP19A1 CYP17A1 CYP11A1
3 intermembrane cholesterol transfer activity GO:0120020 9.5 STAR APOE ABCA1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP27A1 CYP19A1 CYP17A1 CYP11A1
5 iron ion binding GO:0005506 9.35 MSMO1 CYP27A1 CYP19A1 CYP17A1 CYP11A1
6 oxidoreductase activity GO:0016491 9.23 MSMO1 HMGCR DHRS9 DHCR7 CYP27A1 CYP19A1

Sources for Smith-Lemli-Opitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....