fructose-1,6-bisphosphatase deficiency

Summary
Synonym
  • fructose 1 phosphate aldolase deficiency
  • fructose-1,6-diphosphatase deficiency
Definition
A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:5204
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2203 FBP1 fructose-bisphosphatase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14121 Fbp1 fructose bisphosphatase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24362 Fbp1 fructose-bisphosphatase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
851092 FBP1 fructose 1,6-bisphosphate 1-phosphatase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P09467 Fructose-1,6-bisphosphatase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 39 in total
HPO ID HPO Term
HP:0002094 Dyspnea
HP:0006582 Reye syndrome-like episodes
HP:0001397 Hepatic steatosis
HP:0003128 Lactic acidosis
HP:0001250 Seizure
HP:0002240 Hepatomegaly
HP:0004372 Reduced consciousness
HP:0001946 Ketosis
HP:0000980 Pallor
HP:0002119 Ventriculomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
2203 FBP1 fructose-bisphosphatase 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