Danon Disease (DAND)

Alias:
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity
Glycogen Storage Disease Type Iib
Glycogen Storage Disease Iib
Pseudoglycogenosis Ii
Glycogen Storage Disease Due to Lamp-2 Deficiency
Glycogenosis Due to Lamp-2 Deficiency
Glycogen Storage Disease Type 2b
Gsd Due to Lamp-2 Deficiency
Antopol Disease
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency
Lysosomal Glycogen Storage Disease with Normal Acid Maltase
Vacuolar Cardiomyopathy and Myopathy, X-Linked
Vacuolar Cardiomyopathy and Myopathy X-Linked
Gsd Iib, Formerly
Gsd2b, Formerly
Gsd-Iib
Gsd2b
Dand
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Danon Disease, also known as lysosomal glycogen storage disease with normal acid maltase activity, is related to wolff-parkinson-white syndrome and glycogen storage disease ii. An important gene associated with Danon Disease is LAMP2 (Lysosomal Associated Membrane Protein 2), and among its related pathways/superpathways are Selective autophagy and Autophagy pathway. Affiliated tissues include skeletal muscle and heart, and related phenotypes are intellectual disability and gait disturbance
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Child
<1/1000000
24
185
78

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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