glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Findings
No curated finding names glycogen storage disease due to glucose-6-phosphatase deficiency type IA yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
Definition from the Mondo Disease Ontology (MONDO:0009287), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Fasting hypoglycemiaHPOHP:0003162
- 5 of 5 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 5 reported patients
- HyperlipidemiaHPOHP:0003077
- 5 of 5 reported patients
- Lactic acidosisHPOHP:0003128
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 1 of 5 reported patients
- HyperuricemiaHPOHP:0002149
- 1 of 5 reported patients
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 · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
13 names
Resolves to: glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Also called
- G6P deficiency type 1aG6PC glycogen storage diseaseglycogen storage disease caused by mutation in G6PCglycogen storage disease due to G6P deficiency type Iaglycogen storage disease type 1aglycogen storage disease type Iaglycogenosis due to glucose-6-phosphatase deficiency type 1aglycogenosis due to glucose-6-phosphatase deficiency type Iaglycogenosis type IaGSD due to G6P deficiency type 1aGSD due to G6P deficiency type IaGSD type 1aGSDIa