Gaucher's Disease (GD)

Alias:
Gaucher Disease
Glucocerebrosidase Deficiency
Acid Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramidase Deficiency
Kerasin Thesaurismosis
Lipoid Histiocytosis
Cerebroside Lipidosis Syndrome
Glucosyl Cerebroside Lipidosis
Acute Cerebral Gaucher Disease
Glocucerebrosidase Deficiency
Glucosylceramide Lipidosis
Gaucher Disease, Type 1
Gaucher Disease, Type 2
Kerasin Histiocytosis
Gaucher Splenomegaly
Glucocerebrosidosis
Kerasin Lipoidosis
Gaucher Syndrome
Gauchers Disease
Gd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type ii and gaucher disease, type iii, and has symptoms including apnea, muscle rigidity and muscle spasticity. An important gene associated with Gaucher's Disease is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Hematopoietic Stem Cells and Lineage-specific Markers and Senescence and autophagy in cancer. The drugs Ledipasvir and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include spleen and bone marrow, and related phenotypes are splenomegaly and hepatomegaly
Related ID:
MESH:D005776

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
53
522
220

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
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