You are using an outdated browser. Please upgrade your browser to improve your experience.
inborn glycerol kinase deficiency
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.
Uniprot Description A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.
Disease Ontology Description 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.
Download Data for inborn glycerol kinase deficiency
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060363
OMIM:307030
Orphanet:308993
SCTID:124322002
MONDO:0010613
High level summary of knowledge for a disease, including descriptions and datasource references.