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Glycogen storage disease IXa2(GSD9A2)

MedGen UID:
411335
•Concept ID:
C2748941
•
Disease or Syndrome
Synonyms: GSD IXa2; GSD9A2
 
Monarch Initiative: MONDO:0100439
OMIM®: 300798; 306000

Definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. [from MONDO]

Recent clinical studies

Diagnosis

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS
Mol Genet Metab 2020 Nov;131(3):299-305. Epub 2020 Oct 10 doi: 10.1016/j.ymgme.2020.10.004. PMID: 33317799Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
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    • OMIM
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