ORPHA:98880

Familial afibrinogenemia

This disease is described under Congenital fibrinogen deficiency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial afibrinogenemia
fr	Afibrinogénémie familiale
de	Afibrinogenämie, familiäre
es	Afibrinogenemia familiar
it	Afibrinogenemia familiare
nl	Familiale afibrinogenemie
pt	Afibrinogenemia familiar
pl	Rodzinna afibrynogenemia
cs	Familiární afibrinogenémie
uk	Сімейна афібриногенемія
zh	家族性无纤维蛋白原血症
tr	Ailesel afibrinojenemi

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	202400	E		validated
ICD-10	D68.2	NTBT	attributed	validated
ICD-11	3B14.0	NTBT	index	validated
MONDO	0008737	E		validated
UMLS	C2584774	E		validated
GARD	5761	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	11460507[PMID]_17295221[PMID]
FGB	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	11460507[PMID]_17295221[PMID]
FGG	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	11460507[PMID]_17295221[PMID]

0 records

No prevalence record in this release.

7 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001892	Abnormal bleeding
HP:0000421	Epistaxis
HP:0000225	Gingival bleeding
HP:0001386	Joint swelling
HP:0400008	Menometrorrhagia
HP:0005268	Spontaneous abortion
Occasional (29-5%)
HP:0001342	Cerebral hemorrhage