glycogen storage disease due to liver phosphorylase kinase deficiency
Findings
No curated finding names glycogen storage disease due to liver phosphorylase kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Definition from the Mondo Disease Ontology (MONDO:0020693), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal erythrocyte enzyme concentration or activityHPOHP:0030272
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Fasting hypoglycemiaHPOHP:0003162
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hepatic fibrosisHPOHP:0001395
- Frequent (30% to 79% of cases)
- HypercholesterolemiaHPOHP:0003124
- Frequent (30% to 79% of cases)
- HyperketonemiaHPOHP:0410175
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- KetosisHPOHP:0001946
- Frequent (30% to 79% of cases)
Show the remaining 39
- CholestasisHPOHP:0001396
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
- DysmenorrheaHPOHP:0100607
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Occasional (5% to 29% of cases)
- Exercise intoleranceHPOHP:0003546
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
- Narrower terms (2)