Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset

Alias:
Glycogenosis Due to Acid Maltase Deficiency, Infantile Onset
Alpha-1,4-Glucosidase Acid Deficiency, Infantile Onset
Gsd Due to Acid Maltase Deficiency, Infantile Onset
Glycogen Storage Disease Type Ii, Infantile Onset
Glycogen Storage Disease Type 2, Infantile Onset
Glycogenosis Type Ii, Infantile Onset
Glycogenosis Type 2, Infantile Onset
Pompe Disease, Infantile Onset
Gsd Type Ii, Infantile Onset
Gsd Type 2, Infantile Onset
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset, is also known as glycogenosis due to acid maltase deficiency, infantile onset. An important gene associated with Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset is GAA (Alpha Glucosidase). The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart and tongue, and related phenotypes are failure to thrive and muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
1
8
--

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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