glycogen storage disease IXc
MONDO:0013091Mondo
Findings
No curated finding names glycogen storage disease IXc yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A liver PhK deficiency caused by variants in the PHKG2 gene
Definition from the Mondo Disease Ontology (MONDO:0013091), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- CirrhosisHPOHP:0001394
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Increased hepatic glycogen contentHPOHP:0006568
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Motor delayHPOHP:0001270
Show the remaining 2
- Fasting hypoglycemiaHPOHP:0003162
- 1 of 3 reported patients
- Reduced hepatic phosphorylase kinase activityHPOHP:6000333
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.
- PHKG2HGNC:8931
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: glycogen storage disease IXc
- Also called
- glycogen storage disease caused by mutation in PHKG2glycogen storage disease type IXcGSD type 9CGSD type IXcGSD9CPHKG2 glycogen storage diseasePHKG2-related glycogen storage disease type IX