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phosphoglycerate kinase 1 deficiency
Summary
- Synonym
-
- GSD due to phosphoglycerate kinase 1 deficiency
- PGK1 deficiency
- glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- glycogenosis due to phosphoglycerate kinase 1 deficiency
- Definition
- 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.
- Super Class
- X-linked recessive disease glucose metabolism disease
External Links
- Disease Ontology
- DOID:0111933
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000556 | Retinal dystrophy |
| HP:0000618 | Blindness |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001324 | Muscle weakness |
| HP:0001337 | Tremor |
| HP:0001878 | Hemolytic anemia |
