Gaucher Disease, Type Iii (GD3)

Alias:
Gaucher Disease, Subacute Neuronopathic Type
Gaucher Disease Type 3
Gd Iii
Cerebral Juvenile and Adult Form of Gaucher Disease
Gaucher Disease, Juvenile and Adult, Cerebral
Gaucher Disease, Chronic Neuronopathic Type
Chronic Neuronopathic Gaucher Disease
Gaucher's Disease Type Iii
Gaucher Disease Type Iii
Gd3
Cerebral, Juvenile and Adult, Gaucher Disease
Gaucher Disease Chronic Neuronopathic Type
Subacute Neuronopathic Gaucher Disease
Gaucher Disease Type Ii
Gaucher Disease, Type 2
Gaucher Disease, Type 3
Type 3 Gaucher Disease
Gaucher Disease 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to splenomegaly and gaucher disease, type ii, and has symptoms including apnea, muscle rigidity and muscle spasticity. An important gene associated with Gaucher Disease, Type Iii is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Sphingolipid metabolism and Degradation pathway of sphingolipids, including diseases. The drugs Eliglustat and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
14
92
72

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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