Glycoproteinosis

Alias:
Sialidosis
Cherry Red Spot Myoclonus Syndrome
Mucolipidosis Type I
Mucolipidoses
Disorders of Glycoprotein Metabolism
Myoclonus Cherry Red Spot Syndrome
Glycoprotein Storage Disorder
Lipomucopolysaccharidosis
Type I Mucolipidosis
Mucolipidosis I
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycoproteinosis, also known as sialidosis, is related to mucolipidosis ii alpha/beta and myoclonus epilepsy. An important gene associated with Glycoproteinosis is NEU1 (Neuraminidase 1), and among its related pathways/superpathways are Innate Immune System and Metabolism. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and spleen, and related phenotypes are nervous system and homeostasis/metabolism
Related ID:
MESH:D009081
ICD11:979972142

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
1-9/1000000
20
133
21

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