glycogen storage disease Ic

Summary
Definition
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
Super Class
autosomal recessive disease glycogen storage disease I
External Links
Disease Ontology
DOID:0081331
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2542 SLC37A4 solute carrier family 37 member 4
The Human Phenotype Ontology
Displaying entries 61 - 70 of 75 in total
HPO ID HPO Term
HP:0000991 Xanthomatosis
HP:0003623 Neonatal onset
HP:0000097 Focal segmental glomerulosclerosis
HP:0002788 Recurrent upper respiratory tract infections
HP:0012522 Spider hemangioma
HP:0000083 Renal insufficiency
HP:0010280 Stomatitis
HP:0000007 Autosomal recessive inheritance
HP:0001946 Ketosis
HP:0002884 Hepatoblastoma
Displaying 1 entry
Gene ID Gene Symbol Description
2542 SLC37A4 solute carrier family 37 member 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024