MCID: CNG019
MIFTS: 57

Congenital Afibrinogenemia malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Congenital Afibrinogenemia

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MalaCards based summary: Congenital Afibrinogenemia, also known as familial afibrinogenemia, is related to afibrinogenemia and dysfibrinogenemia, and has symptoms including metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea, hydrarthrosis/articular/joint effusion and hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding. An important gene associated with Congenital Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Staphylococcus aureus infection and Response to elevated platelet cytosolic Ca2+. The compounds hirugen and fibrinopeptide a have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and skin, and related mouse phenotypes are hematopoietic system and embryogenesis.

Descriptions from OMIM:46 202400,616004

Aliases & Classifications for Congenital Afibrinogenemia

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Sources:
8Disease Ontology, 62UMLS, 9diseasecard, 48Orphanet, 57SNOMED-CT, 34MeSH, 46OMIM, 39NCIt, 26ICD10 via Orphanet
See all sources

Congenital Afibrinogenemia, Aliases & Descriptions:

Name: Congenital Afibrinogenemia 8
Familial Afibrinogenemia 48 62
Fibrinogen Deficiency 8 62
Factor I Deficiency 8 62
 
Hereditary Factor I Deficiency Disease 62
Congenital Fibrinogen Deficiency 48
Afibrinogenemia, Congenital 9
Familial Hypofibrinogenemia 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
congenital fibrinogen deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age
familial afibrinogenemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy
familial hypofibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:2236
MeSH34 D000347
NCIt39 C26692
ICD10 via Orphanet26 D68.2

Related Diseases for Congenital Afibrinogenemia

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Diseases in the Congenital Afibrinogenemia family:

Afibrinogenemia Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

Diseases related to Congenital Afibrinogenemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia32.1FGB, FGA
2dysfibrinogenemia30.3FGA, F2
3peritonitis30.2F2, CFI
4von willebrand's disease30.2F2, F3
5thrombocytopenia30.0FGA, F3, F2
6lupus erythematosus30.0F3, F2
7vasculitis29.9F2, CFI, FGA
8thromboembolism29.9F2, F3, FGA
9myocardial infarction29.9F3, FGA, FGB
10pulmonary embolism29.6F2, F3, FGA, FGB
11venous thrombosis29.6F2, F3, FGA, FGB
12systemic lupus erythematosus29.4F2, CFI, F3, FGA
13complement factor i deficiency10.7
14insulin-like growth factor i deficiency10.7
15antithrombin iii deficiency10.4F2
16factor xii deficiency10.3F3
17coronary thrombosis10.3F3
18fibrinogen deficiency, congenital10.3
19protein c deficiency10.2
20fga-related congenital afibrinogenemia10.2
21fgb-related congenital afibrinogenemia10.2
22fgg-related congenital afibrinogenemia10.2
23spinal cord infarction10.2
24glomerulonephritis10.2
25meningitis10.2
26hemangioma10.2
27giant hemangioma10.2
28bernard-soulier syndrome10.2F2, FGA
29hypofibrinogenemia, familial10.1
30cerebral hemorrhage10.1
31hemopneumothorax10.1
32marfan syndrome10.1
33corpus luteum cyst10.1
34constrictive pericarditis10.1
35cerebritis10.1
36arthropathy10.1
37cellulitis10.1
38osteomyelitis10.1
39pericarditis10.1
40periodontitis10.1
41hemophilia10.1
42sickle cell disease10.1FGA, CFI
43factor x deficiency10.1F2, F3
44factor v deficiency10.1F2, F3
45vitamin k deficiency hemorrhagic disease10.1F2, F3
46intracranial thrombosis10.1F3, FGA
47factor xi deficiency10.1F2, F3
48hemorrhagic disease10.1F2, F3
49factor vii deficiency10.0F2, F3
50factor viii deficiency10.0F3, F2

Graphical network of the top 20 diseases related to Congenital Afibrinogenemia:



Diseases related to congenital afibrinogenemia

Symptoms for Congenital Afibrinogenemia

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Clinical features from OMIM:

202400,616004

Symptoms:

48 (show all 10)
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hydrarthrosis/articular/joint effusion
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • autosomal recessive inheritance
  • spontaneous abortions
  • intracranial/cerebral/meningeal hemorrhage
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • autosomal dominant inheritance

HPO human phenotypes related to Congenital Afibrinogenemia:

(show all 11)
id Description Frequency HPO Source Accession
1 gingival bleeding hallmark (90%) HP:0000225
2 epistaxis hallmark (90%) HP:0000421
3 abnormality of coagulation hallmark (90%) HP:0001928
4 gastrointestinal hemorrhage hallmark (90%) HP:0002239
5 abnormality of the menstrual cycle hallmark (90%) HP:0000140
6 gingival bleeding hallmark (90%) HP:0000225
7 epistaxis hallmark (90%) HP:0000421
8 joint swelling hallmark (90%) HP:0001386
9 abnormality of coagulation hallmark (90%) HP:0001928
10 spontaneous abortion hallmark (90%) HP:0005268
11 intracranial hemorrhage occasional (7.5%) HP:0002170

Drugs & Therapeutics for Congenital Afibrinogenemia

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Drug clinical trials:

Search ClinicalTrials for Congenital Afibrinogenemia

Search NIH Clinical Center for Congenital Afibrinogenemia

Genetic Tests for Congenital Afibrinogenemia

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Anatomical Context for Congenital Afibrinogenemia

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MalaCards organs/tissues related to Congenital Afibrinogenemia:

32
Spinal cord, Kidney, Skin

Animal Models for Congenital Afibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Afibrinogenemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2FGA, FGG, F3, F2
2MP:00053808.1F2, F3, FGG, FGA
3MP:00053857.9F2, F3, FGG, FGA
4MP:00053767.5FGA, FGG, F3, CFI, F2

Publications for Congenital Afibrinogenemia

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Articles related to Congenital Afibrinogenemia:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
2
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. (22624802)
2012
3
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
4
Cellulitis on face in a patient with congenital afibrinogenemia. (21521918)
2011
5
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
6
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
7
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. (19560685)
2009
8
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
9
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. (19003752)
2008
10
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
11
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. (15726270)
2005
12
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. (16195396)
2005
13
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. (15505182)
2004
14
Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. (15224364)
2004
15
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
16
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. (12393540)
2002
17
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. (11739173)
2001
18
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. (11354637)
2001
19
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. (11238133)
2001
20
Third molar extractions in a patient with congenital afibrinogenemia: a case report. (11474458)
2001
21
Congenital afibrinogenemia. (17322680)
2000
22
Treatment of congenital afibrinogenemia with cryoprecipitate collected through a plasmapheresis program using dedicated donors. (9886792)
1998
23
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
24
Congenital afibrinogenemia: treatment of excessive menstrual bleeding with continuous oral contraceptive. (8756102)
1996
25
Congenital afibrinogenemia in Hasan Sadikin Hospital. (7886594)
1993
26
Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report. (8357104)
1993
27
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
28
Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. (1503100)
1992
29
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
30
Prophylactic cryoprecipitate in congenital afibrinogenemia. (3180628)
1988
31
Congenital afibrinogenemia with osteomyelitis of mandible. (6582151)
1983
32
Dental treatment of a patient with congenital afibrinogenemia--complications of supportive care. (6461847)
1981
33
Demonstration of a double hereditary pattern for congenital afibrinogenemia. (7296014)
1981
34
Severe ovarian hemorrhage in congenital afibrinogenemia. (7282313)
1981
35
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
36
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
37
Congenital afibrinogenemia. A case report with some considerations on the hereditary transmission of this disorder. (5561958)
1971
38
Congenital afibrinogenemia. Report of two cases. (5505598)
1970
39
Congenital afibrinogenemia. Report of a case. (5446942)
1970
40
A case of congenital afibrinogenemia and review of reported cases in Japan. (5708511)
1968
41
Platelet function in congenital afibrinogenemia. (5865600)
1965
42
Congenital afibrinogenemia. (13940499)
1963
43
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
44
Normal fibrinolytic system in blood in congenital afibrinogenemia and its significance. (13863032)
1961
45
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
46
A case of congenital afibrinogenemia. (13426251)
1957
47
Congenital afibrinogenemia; report on a child without fibrinogen and review of the literature. (13206384)
1954
48
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
49
Congenital afibrinogenemia; report of a case. (13036995)
1953
50
A case of congenital afibrinogenemia. (14795825)
1951

Variations for Congenital Afibrinogenemia

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Expression for genes affiliated with Congenital Afibrinogenemia

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Expression patterns in normal tissues for genes affiliated with Congenital Afibrinogenemia

Search GEO for disease gene expression data for Congenital Afibrinogenemia.

Pathways for genes affiliated with Congenital Afibrinogenemia

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Pathways related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4CFI, FGG
2
Show member pathways
9.1FGG, FGA, FGB
39.1FGB, FGA, FGG
4
Show member pathways
9.1FGG, FGA, FGB
5
Show member pathways
9.1FGB, FGA, FGG
69.1FGG, FGA, FGB
7
Show member pathways
8.6FGB, FGA, FGG, F2
8
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.6FGB, FGA, FGG, F2
9
Show member pathways
8.6FGB, FGA, FGG, F2
108.6F2, FGG, FGA, FGB
11
Show member pathways
7.7F2, F3, FGG, FGA, FGB
12
Show member pathways
7.7F2, F3, FGG, FGA, FGB
13
Show member pathways
7.7F2, F3, FGG, FGA, FGB
14
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
7.1FGB, FGA, FGG, F3, CFI, F2

Compounds for genes affiliated with Congenital Afibrinogenemia

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Compounds related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1hirugen449.8F2, FGA
2fibrinopeptide a449.7F2, FGA
3ancrod449.6F2, FGA
4aprosulate449.6F2, F3
5napsagatran449.5F2, F3
6brodifacoum449.5F2, F3
7mnpt449.5F2, F3
8calcium heparin449.5F3, FGA
9sucralfate44 1110.5FGB, FGA, FGG
10certoparin449.5F2, F3
11appt449.5F2, F3
12rsai449.5FGB, FGA, FGG
13heparin sodium449.5F2, F3
14inogatran449.5F2, F3
15desirudin449.5F3, FGA
16dextran 70449.5F2, F3
17ecarin449.5F2, F3
18batroxobin449.5F2, FGA, FGB
19polybrene449.5F2, F3
20spectrozyme449.5F2, F3
21s-warfarin449.5F2, F3
22danaparoid449.4F2, F3
23hepaplastin449.4F2, F3
2411-dehydrothromboxane b2449.4F2, FGA
25rivaroxaban44 1110.4F2, F3
26kaolin449.4F2, F3
27ximelagatran44 1110.4F2, F3
28organon449.4F2, F3
29vitamin k144 2410.3F2, F3
30heparinoids449.3F2, F3
31fondaparinux449.2F2, F3
32acenocoumarol44 50 1111.2F3, F2
33phenprocoumon44 50 1111.1F3, F2
34hemochron449.1F2, F3, FGA
35bivalirudin44 1110.1FGA, F3, F2
36argatroban44 1110.0F2, F3, FGA
37ppack449.0FGA, F3, F2
38coumarin44 2 50 2412.0FGA, F3, F2
39dipyridamole44 61 28 1112.0F2, F3, FGA
40coumarins449.0F2, F3
41protamine449.0FGA, F3, F2
42warfarin44 50 24 1112.0F2, F3, FGA
43aprotinin44 1110.0FGA, F3, F2
44kininogen448.9F3, CFI, F2
45hydroxyethyl starch448.8F2, F3
46hirudin448.6FGB, FGA, F3, F2
47creatinine448.3FGA, F3, CFI, F2
48heparin44 28 24 1111.0F2, CFI, F3, FGA, FGB
49serine447.9F2, CFI, F3, FGA, FGB
50fibrinogen447.6FGB, FGA, FGG, F3, CFI, F2

GO Terms for genes affiliated with Congenital Afibrinogenemia

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Cellular components related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:0055779.3FGB, FGA, FGG
2platelet alpha granuleGO:0310919.3FGG, FGA, FGB
3platelet alpha granule lumenGO:0310939.2FGG, FGA, FGB
4cell cortexGO:0059389.0FGG, FGA, FGB
5external side of plasma membraneGO:0098978.8FGB, FGA, FGG
6blood microparticleGO:0725628.7FGB, FGA, FGG, F2
7cell surfaceGO:0099868.3F3, FGG, FGA, FGB
8extracellular regionGO:0055767.9FGB, FGA, FGG, CFI, F2
9plasma membraneGO:0058867.7FGB, FGA, FGG, F3, F2
10extracellular spaceGO:0056157.3F2, CFI, F3, FGG, FGA, FGB

Biological processes related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.2FGG, FGA, FGB
2extracellular matrix organizationGO:0301989.1FGB, FGA, FGG
3response to calcium ionGO:0515929.0FGB, FGA, FGG
4platelet degranulationGO:0025768.8FGG, FGA, FGB
5platelet activationGO:0301688.6F2, FGG, FGA, FGB
6blood coagulationGO:0075967.9FGB, FGA, FGG, F3, F2

Molecular functions related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1FGB, FGA, FGG
2receptor bindingGO:0051028.3FGB, FGA, FGG, F2

Products for genes affiliated with Congenital Afibrinogenemia

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  • Antibodies
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Sources for Congenital Afibrinogenemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet