Smith-Lemli-Opitz Syndrome (SLOS)

Alias:
Slos
7-Dehydrocholesterol Reductase Deficiency
Rsh Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
Slo Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung
Smith-Lemli-Opitz Syndrome, Type Ii
Lethal Acrodysgenital Syndrome
Smith-Opitz-Inborn Syndrome
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Smith-Lemli-Opitz Syndrome, also known as slos, is related to greenberg dysplasia and hypercholesterolemia, familial, 1, and has symptoms including constipation, seizures and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung and eye, and related phenotypes are intellectual disability and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
37
419
227

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top