Details of Disease | DrugMAP

General Information of Disease (ID: DISXSG96)

Disease Name	Glycogen storage disease IXb
Synonyms	phosphorylase kinase deficiency of liver and muscle, autosomal recessive; glycogen storage disease due to liver and muscle phosphorylase kinase deficiency; glycogenosis of liver and muscle, autosomal recessive; glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; GSD type IXb; glycogen storage disease type 9B; GSD IXb; PHKB-related glycogen storage disease type IX; glycogenosis type IXb; GSD type 9B; PHKB glycogen storage disease; glycogen storage disease IXb; glycogen storage disease caused by mutation in PHKB; glycogenosis type 9B; glycogen storage disease type IXb; GSD9B; glycogen storage disease 9B
Definition	A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
Disease Hierarchy	DISYGNOB: Disorder of glycogen metabolism DISXSG96: Glycogen storage disease IXb
Disease Identifiers	MONDO ID MONDO_0009868 MESH ID C563008 UMLS CUI C0543514 OMIM ID 261750 MedGen ID 107772 Orphanet ID 79240 SNOMED CT ID 860860004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHKB	OTKXZZIU	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.