Details of Disease

General Information of Disease (ID: DISDQNH7)

Disease Name Adult polyglucosan body disease
Synonyms polyglucosan body disease, adult form; polyglucosan body neuropathy, adult form; APBN; polyglucosan body disease, adult; APBD
Definition
Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DIS3H8HJ: Glycogen storage disease due to glycogen branching enzyme deficiency
DISDQNH7: Adult polyglucosan body disease
Disease Identifiers
MONDO ID
MONDO_0009897
MESH ID
C564878
UMLS CUI
C1849722
OMIM ID
263570
MedGen ID
342338
Orphanet ID
206583
SNOMED CT ID
721099001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TGM5 DEW8QEH Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GBE1 OTK2N05B Moderate Autosomal recessive [2]
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References

1 Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy.J Lipid Res. 2017 Aug;58(8):1598-1612. doi: 10.1194/jlr.M075531. Epub 2017 Jun 19.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.