glycogen storage disease type 1 due to SLC37A4 mutation
MONDO:0023258Mondo
Findings
No curated finding names glycogen storage disease type 1 due to SLC37A4 mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
Definition from the Mondo Disease Ontology (MONDO:0023258), read 2026-09-29. CC BY 4.0.
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.
- SLC37A4HGNC:4061
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: glycogen storage disease type 1 due to SLC37A4 mutation
- Also called
- glucose-6-phosphate translocase deficiencyglycogen storage disease I caused by mutation in SLC37A4SLC37A4 glycogen storage disease I