Mucolipidosis Ii Alpha/beta (MLII)

Alias:
I-Cell Disease
Mucolipidosis Type Ii
Mucolipidosis Ii
N-Acetylglucosamine 1-Phosphotransferase Deficiency
Mucolipidosis Type Ii Alpha/beta
Inclusion-Cell Disease
Inclusion Cell Disease
Mlii
Icd
Deficiency of N-Acetylglucosamine-1-Phosphotransferase
Mucolipidosis, Type Ii, Alpha/beta
Type Ii Mucolipidosis
Ml Ii Alpha/beta
Mucolipidosis 2
I Cell Disease
Ml Ii
Ml2
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to mucolipidosis iii gamma and glycoproteinosis. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are coarse facial features and gingival overgrowth

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/1000000
19
136
106

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