ORPHA:284414

Glycerol kinase deficiency, adult form

A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Glycerol kinase deficiency, adult form
fr	Déficit en glycérol kinase, forme adulte
de	Glycerol-Kinase-Mangel, adulter
es	Deficiencia de glicerol quinasa en adultos
it	Deficit di glicerolo chinasi dell'adulto
nl	Glycerolkinasedeficiëntie, volwassen vorm
pt	Deficiência de glicerol cinase, no adulto
pl	Niedobór kinazy glicerolu, postać dorosła
cs	Adultní forma deficitu glycerolkinázy
uk	Дефіцит гліцеролкінази, доросла форма
zh	成人型甘油激酶缺乏症
tr	Gliserol kinaz eksikliği, yetişkin formu

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	307030	NTBT		validated
ICD-10	E74.8	NTBT	attributed	validated
ICD-11	5C51.1	NTBT	attributed	validated
MONDO	0017296	E		validated
UMLS	C5681013	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:408Isolated glycerol kinase deficiency
rare inborn errors of metabolism; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GK	Disease-causing germline mutation(s) in	Assessed	HGNC:4289	ENSG00000198814	300474	Xp21.2	glycerol kinase	8651297[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.