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glycerol kinase deficiency
Summary
- Definition
- An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
- Super Class
- inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0060363
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P32189 | Glycerol kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000939 | Osteoporosis |
| HP:0003621 | Juvenile onset |
| HP:0001518 | Small for gestational age |
| HP:0008182 | Adrenocortical hypoplasia |
| HP:0002007 | Frontal bossing |
| HP:0001259 | Coma |
| HP:0003198 | Myopathy |
| HP:0000028 | Cryptorchidism |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0000846 | Adrenal insufficiency |
