ORPHA:248408

Familial hypodysfibrinogenemia

This disease is described under Congenital fibrinogen deficiency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial hypodysfibrinogenemia
fr	Hypodysfibrinogénémie familiale
de	Hypodysfibrinogenämie, familiäre
es	Hipodisfibrinogenemia familiar
it	Ipodisfibrinogenemia familiare
nl	Familiale hypodysfibrinogenemie
pt	Hipodisfibrinogenemia familiar
pl	Hipo- lub dysfibrynogenemia rodzinna
cs	Familiární hypodysfibrinogenémie
uk	Сімейна гіподисфібриногенемія
zh	家族性低纤维蛋白原血症
tr	Ailesel hipodisfibrinojenemi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616004	NTBT		validated
ICD-10	D68.2	NTBT	attributed	validated
ICD-11	3B14.0	NTBT	index	validated
MONDO	0016638	E		validated
UMLS	C0472803	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:335Congenital fibrinogen deficiency
rare genetic diseases; rare hematological diseases

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FGA	Disease-causing germline mutation(s) in	Assessed	HGNC:3661	ENSG00000171560	134820	4q31.3	fibrinogen alpha chain	14615374[PMID]
FGB	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	22955321[PMID]
FGG	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	15632207[PMID]

0 records

No prevalence record in this release.

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