Details of Disease | DrugMAP

General Information of Disease (ID: DISTTAS6)

Disease Name	Glycogen storage disease due to liver phosphorylase kinase deficiency
Definition	A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Disease Hierarchy	DISYGNOB: Disorder of glycogen metabolism DIS2OMMF: Liver disease DISTTAS6: Glycogen storage disease due to liver phosphorylase kinase deficiency
Disease Identifiers	MONDO ID MONDO_0020693 UMLS CUI C2012260 MedGen ID 453209 Orphanet ID 264580

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHKG2	TTI5WS6	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHKA2	OTJE1KXL	Supportive	Autosomal recessive	[1]
PHKG2	OTL0KLRP	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.