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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 1 - 10 of 30 in total
Gene ID Gene Symbol Description Source
34 ACADM acyl-CoA dehydrogenase medium chain
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
226 ALDOA aldolase, fructose-bisphosphate A
353 APRT adenine phosphoribosyltransferase
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2027 ENO3 enolase 3
2203 FBP1 fructose-bisphosphatase 1
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2542 SLC37A4 solute carrier family 37 member 4
2548 GAA alpha glucosidase
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