MCID: CNG019
MIFTS: 52

Congenital Afibrinogenemia malady

Blood, Genetic categories

Summaries for Congenital Afibrinogenemia

Sources:
47OMIM, 33MalaCards
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MalaCards: Congenital Afibrinogenemia, also known as hereditary factor i deficiency disease, is related to afibrinogenemia and protein c deficiency, and has symptoms including autosomal recessive inheritance, autosomal dominant inheritance and autosomal dominant inheritance. An important gene associated with Congenital Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion ECM remodeling and Cell adhesion Plasmin signaling. The compounds serine and calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Description from OMIM:47 202400

Aliases & Classifications for Congenital Afibrinogenemia

Sources:
8Disease Ontology, 9diseasecard, 61UMLS, 49Orphanet, 57SNOMED-CT, 35MeSH, 40NCIt, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61
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 61


External Ids:

Disease Ontology8 DOID:2236
MeSH35 D000347
NCIt40 C26692
OMIM47 202400
ICD10 via Orphanet26 D68.2

Related Diseases for Congenital Afibrinogenemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Afibrinogenemia family:

afibrinogenemia

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia31.6FGA, FGB
2protein c deficiency30.3F2
3thrombocytopenia30.2FGA, F3, VWF, F2
4thrombophilia30.1FGA, F3, VWF, F2
5venous thrombosis30.0FGB, FGA, F3, VWF, F2
6systemic lupus erythematosus30.0CR1
7factor v deficiency29.9F3, F2
8dysfibrinogenemia29.9F2, FGA
9vasculitis29.9CFI, F2, VWF, FGA
10complement factor d deficiency10.6
11complement factor i deficiency10.6
12insulin-like growth factor i deficiency10.4
13growth hormone deficiency10.4
14complement factor h deficiency10.2
15fibrinogen deficiency, congenital10.2
16fga-related congenital afibrinogenemia10.2
17fgb-related congenital afibrinogenemia10.2
18fgg-related congenital afibrinogenemia10.2
19spinal cord infarction10.2
20laron syndrome10.1
21giant hemangioma10.1
22bacteremia10.1
23marfan syndrome10.1
24corpus luteum cyst10.1
25hemopneumothorax10.1
26cellulitis10.1
27constrictive pericarditis10.1
28arthropathy10.1
29hemophilia10.1
30hemophilia a, congenital10.1
31protein r deficiency10.1
32hemorrhage, intracerebral10.1
33hypofibrinogenemia, familial10.1
34aseptic meningitis10.0
35immune-complex glomerulonephritis10.0
36amyloidosis10.0
37neisseria meningitidis infection10.0
38crescentic glomerulonephritis10.0
39primary pulmonary hypertension10.0FGA
40hypercholesterolemia10.0FGA
41hypertension10.0F2
42acute leukemia10.0FGA
43arthritis10.0CR1
44malaria10.0CR1
45antithrombin iii deficiency10.0F2
46stroke, ischemic10.0F2
47complement deficiency10.0CR1
48lupus nephritis10.0CR1
49factor xii deficiency10.0F3
50cystic fibrosis10.0CR1

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



Diseases related to congenital afibrinogenemia

Clinical Features for Congenital Afibrinogenemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

202400

Symptoms:

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

Drugs & Therapeutics for Congenital Afibrinogenemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Afibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Congenital Afibrinogenemia

Search NIH Clinical Center for Congenital Afibrinogenemia

Search CenterWatch for Congenital Afibrinogenemia

Genetic Tests for Congenital Afibrinogenemia

Anatomical Context for Congenital Afibrinogenemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Afibrinogenemia:

33
Skin, Spinal cord, Kidney, T cells

Animal Models for Congenital Afibrinogenemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Congenital Afibrinogenemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5F2, F3, FGG, FGA
2MP:00053767.0CFI, FGA, FGG, F3, VWF, F2

Publications for Congenital Afibrinogenemia

Sources:
51PubMed
See all sources

Articles related to Congenital Afibrinogenemia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
2
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. (22223906)
2011
3
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. (21245743)
2011
4
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. (20180944)
2010
5
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
6
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. (19003752)
2008
7
Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. (17034026)
2007
8
Aortic valve repair in a patient with congenital afibrinogenemia. (16301232)
2005
9
Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. (15946522)
2005
10
Case 1-2005: cardiac surgery in congenital afibrinogenemia with thrombo-occlusive disease. (15747281)
2005
11
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. (15505182)
2004
12
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. (15284111)
2004
13
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
14
Hemopneumothorax associated with Marfan syndrome and congenital afibrinogenemia. (12683581)
2003
15
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). (12406899)
2003
16
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene. (14559115)
2003
17
Unusually quick resorption of an intracerebral hemorrhage in congenital afibrinogenemia. (12428125)
2002
18
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
19
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. (11354637)
2001
20
Fibrinogen gene mutations accounting for congenital afibrinogenemia. (11460507)
2001
21
Congenital afibrinogenemia. (17322680)
2000
22
Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. (10887149)
2000
23
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. (10666208)
2000
24
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
25
Congenital afibrinogenemia: treatment of excessive menstrual bleeding with continuous oral contraceptive. (8756102)
1996
26
Congenital afibrinogenemia with successful delivery. (8840182)
1996
27
Congenital afibrinogenemia: successful prevention of recurrent hemoperitoneum during ovulation by oral contraceptive. (7639293)
1995
28
Congenital afibrinogenemia and splenic rupture. (8304369)
1994
29
Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution. (8086775)
1994
30
Congenital afibrinogenemia. (8037188)
1994
31
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
32
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
33
von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia. (3007578)
1986
34
Congenital afibrinogenemia: an unusual case. (3997502)
1985
35
Congenital afibrinogenemia with osteomyelitis of mandible. (6582151)
1983
36
Dental treatment of a patient with congenital afibrinogenemia--complications of supportive care. (6461847)
1981
37
Severe ovarian hemorrhage in congenital afibrinogenemia. (7282313)
1981
38
A report of a case of congenital afibrinogenemia. (5058707)
1972
39
Fibrinogen and platelets in the primary arrest of bleeding. Studies in two patients with congenital afibrinogenemia. (5556576)
1971
40
Congenital afibrinogenemia. A case report and therapeutic trials. (5916625)
1966
41
Congenital afibrinogenemia. (13940499)
1963
42
Congenital afibrinogenemia (a case report). (13964491)
1962
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
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

Genetic Variations for Congenital Afibrinogenemia

Expression for genes affiliated with Congenital Afibrinogenemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Pathways related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.3FGB, FGA, FGG
29.3FGG, FGA, FGB
3
Hide members
9.3F2, F3
4
Hide members
8.8FGB, FGA, FGG, F2
5
Hide members
8.5FGB, FGA, FGG, VWF
6
Hide members
8.5VWF, FGG, FGA, FGB
7
Hide members
8.5VWF, FGG, FGA, FGB
8
Hide members
8.2FGB, FGA, FGG, F3, F2
9
Hide members
8.2FGB, FGA, FGG, F3, F2
10
Hide members
8.0F2, VWF, FGG, FGA, FGB
11
Hide members
8.0FGB, FGA, FGG, VWF, F2
128.0FGB, FGA, FGG, VWF, F2
13
Hide members
7.4FGB, FGA, FGG, F3, VWF, F2
14
Hide members
7.4FGB, FGA, FGG, F3, VWF, F2
15
Hide members
6.4CFI, CR1, FGB, FGA, FGG, F3

Compounds for genes affiliated with Congenital Afibrinogenemia

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1serine4510.3FGA
2calcium heparin459.8FGA, F3
3sucralfate45 1110.8FGB, FGA, FGG
4rsai459.7FGG, FGA, FGB
5desirudin459.7FGA, F3
6hirugen459.7FGA, F2
7aprosulate459.7F3, F2
8napsagatran459.7F3, F2
9warfarin45 50 11 2412.7FGA, VWF
10brodifacoum459.7F3, F2
11certoparin459.6F3, F2
12batroxobin459.6F2, FGA, FGB
13appt459.6F3, F2
14heparin sodium459.6F3, F2
15inogatran459.6F3, F2
16heparin45 29 11 2412.5CFI, FGA, CR1
17ecarin459.5F3, F2
18dextran 70459.4F3, F2
19polybrene459.4F3, F2
20hemochron459.4FGA, F3, F2
21bivalirudin45 1110.4FGA, F3, F2
22argatroban45 1110.3FGA, F3, F2
23spectrozyme459.3F3, F2
24danaparoid459.3F2, F3
25coumarin45 2 50 2412.3FGA, F3, F2
26protamine459.2F2, F3, FGA
2711-dehydrothromboxane b2459.1FGA, VWF, F2
28aprotinin45 1110.0VWF, F3, FGA
29hepaplastin459.0F2, F3
30ticlopidine45 1110.0FGA, F3, VWF
31polysulfone459.0VWF, F3, FGA
32txb2459.0FGA, F3, VWF
33hydroxyethyl starch458.9F3, VWF, F2
34tranexamic acid45 119.9F3, VWF, F2
35tirofiban45 119.9F2, VWF, F3
36ristocetin458.9F2, VWF, F3
37abciximab45 119.9F3, VWF, F2
38clopidogrel50 45 11 2411.9F3, VWF, F2
39desmopressin45 60 29 1111.9F3, VWF, F2
40dermatan sulfate458.8F3, VWF, F2
41pge1458.6F2, VWF, FGA
42ppack458.5FGA, F3, VWF, F2
43dipyridamole45 60 29 1111.5F2, VWF, F3, FGA
44kininogen458.5CFI, F2, VWF, F3
45aspirin45 50 29 2411.4F2, VWF, F3, FGA
46epinephrine45 11 2410.4F2, VWF, F3, FGA
47hirudin458.2FGB, FGA, F3, VWF, F2
48phospholipid458.2CR1, F3, VWF, F2
49creatinine458.0FGA, F3, VWF, F2, CFI
50fibrinogen457.4CFI, F2, VWF, F3, FGG, FGA

GO Terms for genes affiliated with Congenital Afibrinogenemia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.8FGG, FGB
2fibrinogen complexGO:0055779.5FGB, FGA, FGG
3cell cortexGO:0059389.0FGG, FGA, FGB
4platelet alpha granuleGO:0310918.7VWF, FGG, FGA, FGB
5platelet alpha granule lumenGO:0310938.7VWF, FGG, FGA, FGB
6external side of plasma membraneGO:0098978.6FGB, FGA, FGG, VWF
7cell surfaceGO:0099868.4F3, FGG, FGA, FGB, CR1
8extracellular spaceGO:0056157.9FGB, FGA, FGG, F3, F2, CFI
9plasma membraneGO:0058867.7FGB, FGA, FGG, F3, F2, CR1
10extracellular regionGO:0055767.4FGB, FGA, FGG, VWF, F2, CFI

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.5FGG, FGA, FGB
2response to calcium ionGO:0515929.4FGG, FGA, FGB
3regulation of complement activationGO:0304499.4CFI, CR1
4complement activation, classical pathwayGO:0069589.2CFI, CR1
5blood coagulation, intrinsic pathwayGO:0075979.1VWF, F2
6response to woundingGO:0096119.1F2, VWF
7platelet degranulationGO:0025768.7FGB, FGA, FGG, VWF
8platelet activationGO:0301688.2FGB, FGA, FGG, VWF, F2
9blood coagulationGO:0075967.6F2, VWF, F3, FGG, FGA, FGB

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

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.3VWF, FGB
2protein binding, bridgingGO:0306749.2FGG, FGA, FGB
3receptor bindingGO:0051028.5F2, FGG, FGA, FGB

Products for genes affiliated with Congenital Afibrinogenemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Afibrinogenemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet