glycogen storage disease IXa1
Findings
No curated finding names glycogen storage disease IXa1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
Definition from the Mondo Disease Ontology (MONDO:0010598), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HepatomegalyHPOHP:0002240
- 10 of 15 reported patients
- HypoglycemiaHPOHP:0001943
- 10 of 15 reported patients
- Lactic acidosisHPOHP:0003128
- 5 of 12 reported patients
- FatigueHPOHP:0012378
- 3 of 15 reported patients
- HyperuricemiaHPOHP:0002149
- 1 of 5 reported patients
- HypotoniaHPOHP:0001252
- 2 of 15 reported patients
- SplenomegalyHPOHP:0001744
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHKA2HGNC:8926
- Definitive · Ambry Genetics · X-linked · 2018
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
11 names
Resolves to: glycogen storage disease IXa1
- Also called
- glycogen storage disease caused by mutation in PHKA2glycogen storage disease type 9Aglycogen storage disease type IXaglycogen storage disease type VIIIglycogen storage disease VIIIglycogen storage disease, type IXa1, X-linked recessiveglycogen storage disease, type IXa2, X-linked recessiveglycogenosis type 9Aglycogenosis type IXaPHKA2 glycogen storage diseasePHKA2-related glycogen storage disease type IX