01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 23
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Glycerol Kinase Deficiency
- Standard Disease Name
- glycerol kinase deficiency
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C538138
- OMIM ID
- 307030
- UMLS ID
- C0268418
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.|JABL99:Deficiency of glycerol kinase (adenosine triphosphate:glycerol 3-phosphotransferase) associated with psychomotor retardation, osteoporosis, spasticity, esotropia, and bone fractures.