Sphingolipidosis

Alias:
Sphingolipidoses
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sphingolipidosis, also known as sphingolipidoses, is related to combined saposin deficiency and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Benzocaine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and skin, and related phenotypes are shRNA abundance <= 50% and homeostasis/metabolism
Related ID:
MESH:D013106
ICD11:1875237176

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
--
53
443
--

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