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glycogen storage disease IXa

Summary
Synonym
  • GSD type 9A
  • GSD type IXa
  • GSD9A
  • glycogen storage disease type 9A
  • glycogen storage disease type IXa
  • glycogenosis type 9A
  • glycogenosis type IXa
Definition
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
Super Class
X-linked recessive disease glycogen storage disease IX
External Links
Disease Ontology
DOID:0111042
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 21 - 30 of 30 in total
Gene ID Gene Symbol Description Source
5236 PGM1 phosphoglucomutase 1
5256 PHKA2 phosphorylase kinase regulatory subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6476 SI sucrase-isomaltase
6514 SLC2A2 solute carrier family 2 member 2
7957 EPM2A EPM2A glucan phosphatase, laforin
8908 GYG2 glycogenin 2
8972 MGAM maltase-glucoamylase
57818 G6PC2 glucose-6-phosphatase catalytic subunit 2
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
110094 Phka2 phosphorylase kinase alpha 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31839 CG7766 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
176149 C14B9.8 Phosphorylase b kinase regulatory subunit;putative phosphorylase b kinase regulatory subunit alpha
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024