glycogen storage disease Ia

Summary
Definition
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
Super Class
autosomal recessive disease glycogen storage disease I
External Links
Disease Ontology
DOID:2749
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
34 ACADM acyl-CoA dehydrogenase medium chain
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
189 AGXT alanine--glyoxylate aminotransferase
226 ALDOA aldolase, fructose-bisphosphate A
231 AKR1B1 aldo-keto reductase family 1 member B
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2027 ENO3 enolase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
14377 G6pc1 glucose-6-phosphatase catalytic subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25634 G6pc1 glucose-6-phosphatase catalytic subunit 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0000939 Osteoporosis
HP:0011463 Childhood onset
HP:0001510 Growth delay
HP:0000660 Lipemia retinalis
HP:0002254 Intermittent diarrhea
HP:0000007 Autosomal recessive inheritance
HP:0001892 Abnormal bleeding
HP:0003128 Lactic acidosis
HP:0000823 Delayed puberty
HP:0004322 Short stature
Displaying 1 entry
Gene ID Gene Symbol Description
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1

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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