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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/307030
http://purl.bioontology.org/ontology/OMIM/307030
|
|---|---|
| Preferred Name | GLYCEROL KINASE DEFICIENCY |
| Synonyms |
GKD
HYPERGLYCEROLEMIA
GK DEFICIENCY
GK1 DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GKD
HYPERGLYCEROLEMIA
GK DEFICIENCY
GK1 DEFICIENCY
|
|---|---|
| prefLabel | GLYCEROL KINASE DEFICIENCY
|
| Gene Symbol | GK
|
| Scope Statement | Juvenile and adult forms are isolated glycerol kinase deficiency [MISCELLANEOUS]
Caused by mutation in the glycerol kinase gene (GK, 300474) [MOLECULAR BASIS]
Infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or Duchenne muscular dystrophy and/or congenital adrenal hypoplasia) [MISCELLANEOUS]
Variable clinical phenotype [MISCELLANEOUS]
Adult form is asymptomatic [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp21.3-p21.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 307030
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268418
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |