Glycerol kinase deficiency

Preferred Label : Glycerol kinase deficiency;

Symbol : GKD;

CISMeF acronym : GKD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gk deficiency; Gk1 deficiency; HYPERGLYCEROLEMIA;

Description : Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the glycerol kinase gene (GK, 300474);

Laboratory abnormalities : Increased urinary glycerol; Increased serum glycerol; Decreased glycerol kinase activity; Hypoglycemia; Pseudohypertriglyceridemia in adult form;

Prefixed ID : #307030;

Details

Origin ID

307030;

UMLS CUI

C0268418;

Automatic exact mappings (from CISMeF team)
- GK wt Allele [NCIt concept]
- glycerol kinase [ORDO Gene]
- glycerol kinase [HGNC gene]
Currated CISMeF NLP mapping
- Deficiency of glycerol kinase (disorder) [SNOMED CT concept]
- Glycerol kinase deficiency [ORDO Disease]
- Glycerol kinase deficiency [ICD-11 More detail]
- Glycerol kinase deficiency (disorder) [Inactive SNOMED CT concept]
- Hyperglycerolemia [NCIt concept]
- Hyperglycerolemia [HPO term]
- Isolated glycerol kinase deficiency [ORDO Disease]
- glycerol kinase deficiency [Disease (Nov.)]
- glycerol kinase deficiency [DO Concept]
- glycerol kinase deficiency [SNOMED Notion]
DO Cross reference
- glycerol kinase deficiency [DO Concept]
Genes related to phenotype
- Glycerol kinase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Adrenal insufficiency [HPO term]
- Adrenocortical hypoplasia [HPO term]
- Coma [HPO term]
- Cryptorchidism [HPO term]
- Downturned corners of mouth [HPO term]
- Episodic vomiting [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoglycemia [HPO term]
- Increased urinary glycerol [HPO term]
- Intellectual disability [HPO term]
- Ketoacidosis [HPO term]
- Lethargy [HPO term]
- Loss of consciousness [HPO term]
- Low-set ears [HPO term]
- Metabolic acidosis [HPO term]
- Muscular dystrophy [HPO term]
- Myopathy [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Strabismus [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Glycerol kinase deficiency, adult form [ORDO Disease]
- Glycerol kinase deficiency, infantile form [ORDO Disease]
- Glycerol kinase deficiency, juvenile form [ORDO Disease]
- Isolated glycerol kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glycerol kinase (disorder) [SNOMED CT concept]
- Glycerol kinase deficiency [ORDO Disease]
- Glycerol kinase deficiency [ICD-11 More detail]
- Hyperglycerolemia [HPO term]
- Hyperglycerolemia [NCIt concept]
- Hyperglycerolemia [MeSH Supplementary Concept]
- Isolated glycerol kinase deficiency [ORDO Disease]
- glycerol kinase deficiency [SNOMED Notion]
- glycerol kinase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Glycerol kinase deficiency - isolated (disorder) [SNOMED CT concept]

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