phosphoglycerate kinase 1 deficiency
Information
- Disease name
- phosphoglycerate kinase 1 deficiency
- Disease ID
- DOID:0111933
- Description
- "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1." [url:https\://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/16567715/, url:https\://pubmed.ncbi.nlm.nih.gov/4230542/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4194
- Cross Reference ID (Disease Ontology)
- GARD:7389
- Cross Reference ID (Disease Ontology)
- MESH:C567067
- Cross Reference ID (Disease Ontology)
- MIM:300653
- Cross Reference ID (Disease Ontology)
- NCI:C126738
- Cross Reference ID (Disease Ontology)
- ORDO:713
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1970848
- Exact Synonym (Disease Ontology)
- glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Exact Synonym (Disease Ontology)
- glycogenosis due to phosphoglycerate kinase 1 deficiency
- Exact Synonym (Disease Ontology)
- GSD due to phosphoglycerate kinase 1 deficiency
- Exact Synonym (Disease Ontology)
- PGK1 deficiency