Gaucher Disease, Type Ii (GD2)

Alias:
Acute Neuronopathic Gaucher Disease
Infantile Cerebral Gaucher Disease
Gaucher Disease Type Ii
Gaucher Disease Type 2
Gd Ii
Gd2
Gaucher Disease, Acute Neuronopathic Type
Gaucher's Disease Type Ii
Gaucher Disease, Type 2
Type 2 Gaucher Disease
Gaucher Disease 2
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gaucher Disease, Type Ii, also known as acute neuronopathic gaucher disease, is related to gaucher disease, type iii and gaucher disease, perinatal lethal, and has symptoms including apnea, muscle rigidity and muscle spasticity. An important gene associated with Gaucher Disease, Type Ii is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways is Degradation pathway of sphingolipids, including diseases. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spleen, and related phenotypes are spasticity and dysphagia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
13
78
65

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