glycogen storage disease I
Findings
No curated finding names glycogen storage disease I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Definition from the Mondo Disease Ontology (MONDO:0002413), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- HyperlipidemiaHPOHP:0003077
- Very frequent (80% to 99% of cases)
- HyperuricemiaHPOHP:0002149
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- XanthomatosisHPOHP:0000991
- Occasional (5% to 29% of cases)
- HepatomegalyMondoHP:0002240
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.
- G6PC1HGNC:4056
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
15 names
Resolves to: glycogen storage disease I
- Also called
- G6P deficiencyglycogen storage disease due to G6P deficiencyglycogen storage disease due to glucose-6-phosphatase deficiencyglycogen storage disease type 1Glycogen Storage Disease Type Iglycogen storage disease, type Iglycogenosis type 1glycogenosis type IGSD due to G6P deficiencyGSD type 1GSD type IGSD1hepatorenal glycogenosisvon Gierke diseasevon Gierke's disease