ORPHA:335

Congenital fibrinogen deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: All ages
Status: active

A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital fibrinogen deficiency
fr	Déficit congénital en fibrinogène
de	Fibrinogen-Mangel, kongenitaler
es	Deficiencia congénita de fibrinógeno
it	Deficit congenito di fibrinogeno
nl	Congenitale deficiëntie van fibrinogeen
pt	Deficiência de fibrinogénio congénita
pl	Wrodzony Niedobór fibrynogenu
cs	Vrozený deficit fibrinogenu
uk	Вроджений дефіцит фібриногену
zh	先天性纤维蛋白原缺乏症
tr	Doğumsal fibrinojen eksikliği

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	202400	BTNT		validated
OMIM	616004	BTNT		validated
ICD-10	D68.2	NTBT	attributed	validated
ICD-11	3B14.0	E	specific	validated
MONDO	0018060	E		validated
UMLS	C2062367	E		validated
GARD	2320	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases

Children (4):

Genes

0 direct · 12 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FGA	ORPHA:98880Familial afibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3661	ENSG00000171560	134820	4q31.3	fibrinogen alpha chain	11460507[PMID]_17295221[PMID]
FGA	ORPHA:98881Familial dysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3661	ENSG00000171560	134820	4q31.3	fibrinogen alpha chain	25320241[PMID]
FGA	ORPHA:101041Familial hypofibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3661	ENSG00000171560	134820	4q31.3	fibrinogen alpha chain	18676163[PMID]_17295221[PMID]
FGA	ORPHA:248408Familial hypodysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3661	ENSG00000171560	134820	4q31.3	fibrinogen alpha chain	14615374[PMID]
FGB	ORPHA:98880Familial afibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	11460507[PMID]_17295221[PMID]
FGB	ORPHA:98881Familial dysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	25320241[PMID]
FGB	ORPHA:101041Familial hypofibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	17295221[PMID]
FGB	ORPHA:248408Familial hypodysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3662	ENSG00000171564	134830	4q31.3	fibrinogen beta chain	22955321[PMID]
FGG	ORPHA:98880Familial afibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	11460507[PMID]_17295221[PMID]
FGG	ORPHA:98881Familial dysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	25320241[PMID]
FGG	ORPHA:101041Familial hypofibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	18676163[PMID]_17295221[PMID]
FGG	ORPHA:248408Familial hypodysfibrinogenemia	Disease-causing germline mutation(s) in	Assessed	HGNC:3694	ENSG00000171557	134850	4q32.1	fibrinogen gamma chain	15632207[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.15 / 100 000	Europe	Value and class	Not yet validated	National haemophilia foundation[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

26 annotations · validated 2017-04-13

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002027	Abdominal pain
HP:0001892	Abnormal bleeding
HP:0030680	Abnormal cardiovascular system morphology
HP:0011884	Abnormal umbilical stump bleeding
HP:0009723	Abnormality of the subungual region
HP:0100845	Anaphylactic shock
HP:0000978	Bruising susceptibility
HP:0100759	Clubbing of fingers
HP:0000961	Cyanosis
HP:0008734	Decreased testicular size
HP:0000519	Developmental cataract
HP:0001945	Fever
HP:0000225	Gingival bleeding
HP:0012886	Hemorrhagic ovarian cyst
HP:0011029	Internal hemorrhage
HP:0001712	Left ventricular hypertrophy
HP:0007185	Loss of consciousness
HP:0000054	Micropenis
HP:0000568	Microphthalmia
HP:0002179	Opisthotonus
HP:0008151	Prolonged prothrombin time
HP:0001667	Right ventricular hypertrophy
HP:0012223	Splenic rupture
HP:0001933	Subcutaneous hemorrhage
HP:0001649	Tachycardia
HP:0002580	Volvulus

Run the differential on the 12 obligate / very frequent terms

Annotation source: 7363509[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/335
This record as JSON: /data/d/335.json