Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Alias:
Mucopolysaccharidosis
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders
Mucopolysaccharidoses
Mpsps
Disorders of Glycosaminoglycan Metabolism
Mucopolysaccharidosis-Like Plus Disease
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to hurler-scheie syndrome and hurler syndrome. An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Infectious disease and Innate Immune System. The drugs Rituximab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are coarse facial features and global developmental delay
Related ID:
MESH:D009083
ICD11:1596128696

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/100000
36
238
3

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