MCID: CNG019
MIFTS: 59

Congenital Afibrinogenemia malady

Blood diseases, Genetic diseases categories

Summaries for Congenital Afibrinogenemia

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46OMIM, 32MalaCards
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MalaCards: Congenital Afibrinogenemia, also known as hereditary factor i deficiency disease, is related to complement deficiency and afibrinogenemia, 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 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 spinal cord, kidney and skin, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Description from OMIM:46 202400

Aliases & Classifications for Congenital Afibrinogenemia

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Sources:
8Disease Ontology, 9diseasecard, 60UMLS, 48Orphanet, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic 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 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 60
congenital fibrinogen deficiency 48
familial hypodysfibrinogenemia 48
afibrinogenemia, congenital 9
familial hypofibrinogenemia 48
familial dysfibrinogenemia 48
familial afibrinogenemia 48
fibrinogen deficiency 8
factor i deficiency 8
afibrinogenemia 60


External Ids:

Disease Ontology8 DOID:2236
MeSH34 D000347
NCIt39 C26692
OMIM46 202400
SNOMED-CT via Orphanet57 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 133)
idRelated DiseaseScoreTop Affiliating Genes
1complement deficiency30.9CR1
2afibrinogenemia30.8FGA, FGB
3protein c deficiency30.2F2
4thrombocytopenia30.1FGA, F3, VWF, F2
5thrombophilia30.0FGA, F3, VWF, F2
6peritonitis30.0CFI, F2, CR1
7intracranial thrombosis30.0VWF, F3, FGA
8pulmonary embolism30.0FGB, FGA, F3, F2
9von willebrand's disease30.0F2, VWF, F3
10systemic lupus erythematosus30.0CR1
11pneumonia29.9FGA, CR1
12lupus erythematosus29.9F2, F3
13vasculitis29.9CFI, F2, VWF, FGA
14cholestasis29.9F2
15glomerulonephritis29.9CR1, CFI
16hepatitis29.8CR1, F2
17complement factor i deficiency10.7
18insulin-like growth factor i deficiency10.4
19fibrinogen deficiency, congenital10.2
20fga-related congenital afibrinogenemia10.2
21fgb-related congenital afibrinogenemia10.2
22fgg-related congenital afibrinogenemia10.2
23prostatitis10.1
24laron syndrome10.1
25c3 deficiency10.1
26meningitis10.1
27hemangioma of spleen10.1
28giant hemangioma10.1
29hemangioma10.1
30prostate cancer10.1
31hypofibrinogenemia, familial10.0
32marfan syndrome10.0
33corpus luteum cyst10.0
34hemopneumothorax10.0
35cellulitis10.0
36cerebritis10.0
37constrictive pericarditis10.0
38arthropathy10.0
39osteomyelitis10.0
40pericarditis10.0
41periodontitis10.0
42hemophilia10.0
43retinopathy of prematurity10.0
44aseptic meningitis10.0
45immune-complex glomerulonephritis10.0
46amyloidosis10.0
47encephalitis10.0
48complement factor h deficiency10.0
49primary pulmonary hypertension10.0FGA
50hypercholesterolemia10.0FGA

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



Diseases related to congenital afibrinogenemia

Clinical Features for Congenital Afibrinogenemia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

202400

Symptoms:

48 (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
  • autosomal dominant inheritance
  • hydrarthrosis/articular/joint effusion
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • gingivorrhagia/gingival bleeding
  • venous thrombosis/phlebitis/thrombophlebitis
  • autosomal recessive inheritance

Drugs & Therapeutics for Congenital Afibrinogenemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Congenital Afibrinogenemia

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Sources:
32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Congenital Afibrinogenemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5FGA, FGG, F3, F2
2MP:00053767.0FGA, FGG, F3, VWF, F2, CFI

Publications for Congenital Afibrinogenemia

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Sources:
50PubMed
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Articles related to Congenital Afibrinogenemia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. (22624802)
2012
2
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. (22323341)
2012
3
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. (22732251)
2012
4
Cellulitis on face in a patient with congenital afibrinogenemia. (21521918)
2011
5
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. (22223906)
2011
6
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. (21241266)
2011
7
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. (21245743)
2011
8
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
9
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. (20180944)
2010
10
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. (19003752)
2008
11
Treatment of congenital afibrinogenemia in a premature neonate. (18559953)
2008
12
Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. (17034026)
2007
13
Aortic valve repair in a patient with congenital afibrinogenemia. (16301232)
2005
14
Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. (15946522)
2005
15
Case 1-2005: cardiac surgery in congenital afibrinogenemia with thrombo-occlusive disease. (15747281)
2005
16
Hemopneumothorax associated with Marfan syndrome and congenital afibrinogenemia. (12683581)
2003
17
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. (12393540)
2002
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
Third molar extractions in a patient with congenital afibrinogenemia: a case report. (11474458)
2001
20
Congenital afibrinogenemia. (17322680)
2000
21
A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. (10928469)
2000
22
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. (10666208)
2000
23
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. (10891444)
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
Congenital afibrinogenemia in Hasan Sadikin Hospital. (7886594)
1993
32
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
33
Prophylactic cryoprecipitate in congenital afibrinogenemia. (3180628)
1988
34
Congenital afibrinogenemia with osteomyelitis of mandible. (6582151)
1983
35
Spontaneous severe constrictive pericarditis in congenital afibrinogenemia: mechanism, evaluation, and successful surgical treatment. (7211680)
1981
36
Congenital afibrinogenemia in 10 offspring of uncle-niece marriages. (7363509)
1980
37
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
38
Fibrinogen and platelets in the primary arrest of bleeding. Studies in two patients with congenital afibrinogenemia. (5556576)
1971
39
Congenital afibrinogenemia. Report of two cases. (5505598)
1970
40
Congenital afibrinogenemia (a case report). (13964491)
1962
41
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
42
Normal fibrinolytic system in blood in congenital afibrinogenemia and its significance. (13863032)
1961
43
Precipitating antifibrinogen antibody appearing after fibrinogen infusions in a patient with congenital afibrinogenemia. (13720931)
1961
44
Congenital afibrinogenemia. II. Research on thrombinic formation and inactivation (silent coagulation). (14496738)
1961
45
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
46
Congenital afibrinogenemia; a study of some basic aspects of coagulation. (13189915)
1954
47
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
48
Congenital afibrinogenemia; report of a case. (13036995)
1953
49
A case of congenital afibrinogenemia. (14795825)
1951
50
Congenital afibrinogenemia. (14848515)
1951

Genetic Variations for Congenital Afibrinogenemia

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Expression for genes affiliated with Congenital Afibrinogenemia

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Sources:
1BioGPS, 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:
12EMD Millipore, 53Reactome, 49PharmGKB, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems
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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
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9.3F2, F3
4
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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

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1serine4410.3FGA
2calcium heparin449.8FGA, F3
3sucralfate44 1110.8FGG, FGB, FGA
4rsai449.7FGG, FGB, FGA
5hirugen449.7F2, FGA
6desirudin449.7FGA, F3
7napsagatran449.7F2, F3
8brodifacoum449.7F3, F2
9warfarin44 49 11 2412.7FGA, VWF
10aprosulate449.7F2, F3
11certoparin449.6F2, F3
12batroxobin449.6F2, FGA, FGB
13appt449.6F2, F3
14heparin sodium449.6F3, F2
15inogatran449.6F3, F2
16heparin44 28 11 2412.5CR1, FGA, CFI
17dextran 70449.5F3, F2
18ecarin449.4F2, F3
19polybrene449.4F3, F2
20hemochron449.4F2, F3, FGA
21bivalirudin44 1110.3FGA, F3, F2
22argatroban44 1110.3FGA, F3, F2
23spectrozyme449.3F3, F2
24hepaplastin449.3F2, F3
25coumarin44 2 49 2412.3FGA, F3, F2
26protamine449.2F2, F3, FGA
2711-dehydrothromboxane b2449.1FGA, VWF, F2
28aprotinin44 1110.0F3, VWF, FGA
29danaparoid449.0F2, F3
30ticlopidine44 1110.0VWF, F3, FGA
31polysulfone449.0FGA, F3, VWF
32txb2449.0VWF, F3, FGA
33hydroxyethyl starch448.9F2, VWF, F3
34tranexamic acid44 119.9F2, VWF, F3
35tirofiban44 119.9F3, VWF, F2
36ristocetin448.9F2, VWF, F3
37abciximab44 119.9VWF, F2, F3
38clopidogrel49 44 11 2411.9VWF, F2, F3
39desmopressin44 59 28 1111.9F2, VWF, F3
40dermatan sulfate448.8VWF, F2, F3
41pge1448.6F2, VWF, FGA
42ppack448.5VWF, F2, F3, FGA
43dipyridamole44 59 28 1111.5FGA, F3, F2, VWF
44kininogen448.5F3, CFI, F2, VWF
45aspirin44 49 28 2411.4F2, F3, VWF, FGA
46epinephrine44 11 2410.4FGA, VWF, F3, F2
47hirudin448.2F2, FGB, VWF, F3, FGA
48phospholipid448.2VWF, F3, CR1, F2
49creatinine448.0F2, CFI, FGA, F3, VWF
50fibrinogen447.4F2, FGA, F3, VWF, FGB, CFI

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
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Afibrinogenemia

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet