ORPHA:98885

Bleeding diathesis due to glycoprotein VI deficiency

This disease is described under Bleeding diathesis due to a collagen receptor defect

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Bleeding diathesis due to glycoprotein VI deficiency
fr	Troubles hémorragiques par déficit en glycoprotéine VI
de	Hämorrhagische Diathese durch Glykoprotein VI-Mangel
es	Diátesis hemorrágica por deficiencia de glicoproteína VI
it	Deficit di glicoproteina VI
nl	Bloedingsdiathese door glycoproteïne VI-deficiëntie
pt	Diátese hemorrágica por deficiência de glicoproteina VI
pl	Skaza krwotoczna z powodu niedoboru glikoproteiny VI
cs	Krvácivá diatéza způsobená deficitem glykoproteinu IV
uk	Кровоточивий діатез внаслідок дефіциту глікопротеїну VI
zh	糖蛋白VI缺乏所致出血性倾向
tr	Glikoprotein VI eksikliğine bağlı kanama diyatezi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614201	E		validated
ICD-10	D69.8	NTBT	attributed	validated
ICD-11	3B62.Y	NTBT	index	validated
MONDO	0013623	E		validated
UMLS	C3280120	E		validated
GARD	13293	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):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GP6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14388	ENSG00000088053	605546	19q13.42	glycoprotein VI platelet	19549989[PMID]_19552682[PMID]

0 records

No prevalence record in this release.

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