MCID: CNG019
MIFTS: 58

Congenital Afibrinogenemia malady

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

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47OMIM, 33MalaCards
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MalaCards: Congenital Afibrinogenemia, also known as hereditary factor i deficiency disease, is related to afibrinogenemia and thrombocytopenia, and has symptoms including epistaxis/nose bleeding, hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding 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 Cell adhesion ECM remodeling. The compounds hirugen and fibrinopeptide a have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related mouse phenotypes are hematopoietic system and embryogenesis.

Description from OMIM:47 202400

Aliases & Classifications for Congenital Afibrinogenemia

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8Disease Ontology, 9diseasecard, 62UMLS, 49Orphanet, 58SNOMED-CT, 40NCIt, 47OMIM, 35MeSH, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital fibrinogen deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age
familial dysfibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable
familial afibrinogenemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy
familial hypofibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

congenital afibrinogenemia 8
hereditary factor i deficiency disease 62
congenital fibrinogen deficiency 49
familial hypodysfibrinogenemia 49
afibrinogenemia, congenital 9
familial hypofibrinogenemia 49
familial dysfibrinogenemia 49
familial afibrinogenemia 49
fibrinogen deficiency 8
factor i deficiency 8
afibrinogenemia 62


External Ids:

Disease Ontology8 DOID:2236
NCIt40 C26692
OMIM47 202400
MeSH35 D000347
SNOMED-CT via Orphanet59 234458004, 154818001, 31925001 278504009, more
ICD10 via Orphanet26 D68.2

Related Diseases for Congenital Afibrinogenemia

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Sources:
17GeneCards, 18GeneDecks
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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 82)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia31.7FGB, FGA
2thrombocytopenia30.2F2, F3, FGA
3peritonitis30.1CFI, F2
4von willebrand's disease30.1F2, F3
5dysfibrinogenemia30.1F2, FGA
6thrombophilia30.1FGA, F3, F2
7lupus erythematosus30.0F2, F3
8vasculitis30.0FGA, F2, CFI
9pulmonary embolism30.0F3, FGA, FGB, F2
10venous thrombosis30.0F3, FGA, FGB, F2
11systemic lupus erythematosus29.9F3, FGA, CFI, F2
12insulin-like growth factor i deficiency10.7
13complement factor i deficiency10.7
14fibrinogen deficiency, congenital10.2
15clone of congenital afibrinogenemia10.2
16protein c deficiency10.2
17fga-related congenital afibrinogenemia10.2
18fgb-related congenital afibrinogenemia10.2
19fgg-related congenital afibrinogenemia10.2
20spinal cord infarction10.2
21glomerulonephritis10.2
22meningitis10.2
23giant hemangioma10.2
24hemangioma10.2
25antithrombin iii deficiency10.1F2
26hypofibrinogenemia, familial10.1
27hemopneumothorax10.1
28constrictive pericarditis10.1
29cerebritis10.1
30marfan syndrome10.1
31corpus luteum cyst10.1
32arthropathy10.1
33cellulitis10.1
34osteomyelitis10.1
35pericarditis10.1
36periodontitis10.1
37hemophilia10.1
38factor xii deficiency10.1F3
39coronary thrombosis10.1F3
40bernard-soulier syndrome10.0F2, FGA
41laron syndrome10.0
42aseptic meningitis10.0
43immune-complex glomerulonephritis10.0
44retinopathy of prematurity10.0
45amyloidosis10.0
46encephalitis10.0
47pneumonia10.0
48neisseria meningitidis infection10.0
49complement factor h deficiency10.0
50sickle cell disease10.0FGA, CFI

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



Diseases related to congenital afibrinogenemia

Symptoms for Congenital Afibrinogenemia

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47OMIM, 49Orphanet
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Clinical features from OMIM:

202400

Symptoms:

49 (show all 11)
  • epistaxis/nose bleeding
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • intracranial/cerebral/meningeal hemorrhage
  • spontaneous abortions
  • venous thrombosis/phlebitis/thrombophlebitis
  • autosomal dominant inheritance
  • hydrarthrosis/articular/joint effusion
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • gingivorrhagia/gingival bleeding
  • autosomal recessive inheritance

Drugs & Therapeutics for Congenital Afibrinogenemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Congenital Afibrinogenemia:

33
Spinal cord, Skin

Animal Models for Congenital Afibrinogenemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Afibrinogenemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2FGA, FGG, F3, F2
2MP:00053808.1F3, FGG, FGA, F2
3MP:00053857.9F2, F3, FGG, FGA
4MP:00053767.5F2, FGA, FGG, F3, CFI

Publications for Congenital Afibrinogenemia

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Sources:
52PubMed
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Articles related to Congenital Afibrinogenemia:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
2
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
3
Cellulitis on face in a patient with congenital afibrinogenemia. (21521918)
2011
4
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
5
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
6
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. (19560685)
2009
7
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
8
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. (19003752)
2008
9
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
10
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. (15726270)
2005
11
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. (16195396)
2005
12
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. (15505182)
2004
13
Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. (15224364)
2004
14
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
15
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. (12393540)
2002
16
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
17
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. (11354637)
2001
18
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. (11238133)
2001
19
Third molar extractions in a patient with congenital afibrinogenemia: a case report. (11474458)
2001
20
Fibrinogen gene mutations accounting for congenital afibrinogenemia. (11460507)
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
Platelet function in congenital afibrinogenemia. (5865600)
1965
41
Congenital afibrinogenemia. (13940499)
1963
42
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
43
Normal fibrinolytic system in blood in congenital afibrinogenemia and its significance. (13863032)
1961
44
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
45
A case of congenital afibrinogenemia. (13426251)
1957
46
Congenital afibrinogenemia; report on a newborn infant without fibrinogen. (13417038)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Afibrinogenemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFINM_000204.3(CFI): c.1253A> T (p.His418Leu)single nucleotide variantPathogenicrs121964912GRCh37Chr 4, 110667554: 110667554
2CFINM_000204.3(CFI): c.728G> A (p.Gly243Asp)single nucleotide variantPathogenicrs121964916GRCh37Chr 4, 110681723: 110681723

Expression for genes affiliated with Congenital Afibrinogenemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 30KEGG, 60Thomson Reuters, 12EMD Millipore, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems
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Pathways related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGG, CFI
2
Show member pathways
9.1FGA, FGB, FGG
39.1FGA, FGB, FGG
4
Show member pathways
9.1FGA, FGG, FGB
5
Show member pathways
9.1FGA, FGB, FGG
69.1FGB, FGA, FGG
7
Show member pathways
8.6F2, FGG, FGA, FGB
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
8.6F2, FGA, FGB, FGG
9
Show member pathways
8.6FGA, FGG, F2, FGB
108.6FGA, FGG, FGB, F2
11
Show member pathways
7.7F2, F3, FGG, FGA, FGB
12
Show member pathways
7.7FGG, FGA, F3, FGB, F2
13
Show member pathways
7.7FGB, F3, FGA, FGG, F2
14
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
7.1CFI, FGB, F2, F3, FGG, FGA

Compounds for genes affiliated with Congenital Afibrinogenemia

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 3BitterDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1hirugen459.8FGA, F2
2fibrinopeptide a459.7F2, FGA
3ancrod459.7F2, FGA
4napsagatran459.6F2, F3
5aprosulate459.5F3, F2
6calcium heparin459.5F3, FGA
7brodifacoum459.5F3, F2
8mnpt459.5F2, F3
9sucralfate45 1110.5FGB, FGA, FGG
10certoparin459.5F2, F3
11appt459.5F2, F3
12rsai459.5FGA, FGG, FGB
13inogatran459.5F3, F2
14heparin sodium459.5F2, F3
15desirudin459.5F3, FGA
16ecarin459.5F2, F3
17dextran 70459.5F2, F3
18batroxobin459.5FGB, FGA, F2
19spectrozyme459.5F2, F3
20polybrene459.5F2, F3
21s-warfarin459.5F2, F3
2211-dehydrothromboxane b2459.4F2, FGA
23danaparoid459.4F3, F2
24hepaplastin459.4F2, F3
25rivaroxaban45 1110.4F2, F3
26ximelagatran45 1110.4F3, F2
27organon459.4F2, F3
28kaolin459.3F3, F2
29heparinoids459.3F2, F3
30vitamin k145 2410.3F2, F3
31fondaparinux459.2F3, F2
32acenocoumarol45 51 1111.2F3, F2
33phenprocoumon45 51 1111.1F2, F3
34hemochron459.1FGA, F3, F2
35bivalirudin45 1110.1F3, FGA, F2
36argatroban45 1110.0F2, F3, FGA
37ppack459.0F3, F2, FGA
38coumarin45 3 51 2412.0F3, F2, FGA
39dipyridamole45 61 29 1112.0F2, FGA, F3
40hydroxyethyl starch459.0F3, F2
41protamine459.0F2, FGA, F3
42warfarin45 51 24 1112.0F2, FGA, F3
43aprotinin45 1110.0F2, FGA, F3
44kininogen458.9F2, CFI, F3
45coumarins458.8F3, F2
46hirudin458.6FGB, FGA, F3, F2
47creatinine458.3FGA, CFI, F3, F2
48heparin45 29 24 1111.0FGB, FGA, F3, CFI, F2
49serine457.9FGB, F2, CFI, FGA, F3
50fibrinogen457.6FGG, F2, FGB, FGA, CFI, F3

GO Terms for genes affiliated with Congenital Afibrinogenemia

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16Gene Ontology
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Cellular components related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

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

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

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

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
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Afibrinogenemia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet