Glucosidase Acid-1,4-Alpha Deficiency

Alias:
Glycogen Storage Disease Due to Acid Maltase Deficiency
Glycogenosis Due to Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency
Gsd Due to Acid Maltase Deficiency
Glycogen Storage Disease Type Ii
Glycogen Storage Disease Type 2
Glycogenosis Type Ii
Glycogenosis Type 2
Pompe Disease
Gsd Type Ii
Gsd Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glucosidase Acid-1,4-Alpha Deficiency, also known as glycogen storage disease due to acid maltase deficiency, is related to glycogen storage disease ii and glycogen storage disease ixa1. An important gene associated with Glucosidase Acid-1,4-Alpha Deficiency is GAA (Alpha Glucosidase), and among its related pathways/superpathways is Development VEGF signaling via VEGFR2 - generic cascades. The drugs Bortezomib and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include liver and skeletal muscle, and related phenotypes are muscle weakness and oligosacchariduria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-5/10000
2
29
421

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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