MCID: AFB001
MIFTS: 60

Afibrinogenemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Afibrinogenemia

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

MalaCards: Afibrinogenemia, also known as congenital afibrinogenemia, is related to protein c deficiency and peritonitis. An important gene associated with Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Integrin cell surface interactions and Cell adhesion Plasmin signaling. The compounds hemochron and desirudin have been mentioned in the context of this disorder. Affiliated tissues include placenta, prostate and liver, and related mouse phenotypes are embryogenesis and hematopoietic system.

NIH Rare Diseases:44 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. it occurs when there is a lack (deficiency) of a protein called fibrinogenĀ (or factor i), which is needed for the blood to clot.Ā affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. afibrinogenemia is thought to be transmitted as an autosomal recessive trait. last updated: 7/17/2009

Wikipedia:66 Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally... more...

Description from OMIM:48 202400

Aliases & Classifications for Afibrinogenemia

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

afibrinogenemia 44 23 22 46 63
congenital afibrinogenemia 44 22 11 46
afibrinogenemia, congenital 48
afibrinogenemia congenital 44
familial afibrinogenemia 22


Related Diseases for Afibrinogenemia

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18GeneCards, 19GeneDecks
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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 Afibrinogenemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency30.2F2, CFP, F5
2peritonitis30.0F2, CFI, CR1
3thrombocytopenia30.0CD46, FGA, F5, F8, F2, VWF
4dysfibrinogenemia30.0F2, F5, FGA
5von willebrand's disease29.9F2, VWF, F3, F8
6hepatitis29.9F2, F10, F8, CR1
7pulmonary embolism29.8F2, F10, F3, F5, FGA, FGB
8venous thrombosis29.6F2, VWF, F10, F11, F3, F8
9congenital afibrinogenemia11.0
10prostatitis10.2
11carotid artery thrombosis10.1F3
12intermittent claudication10.1VWF
13angiodysplasia10.1VWF
14glanzmann's thrombasthenia10.1VWF
15arthus reaction10.1CD46
16thrombotic thrombocytopenic purpura, acquired10.1CD46
17coronary thrombosis10.1VWF, F3
18clone of congenital afibrinogenemia10.1
19fga-related congenital afibrinogenemia10.1
20fgb-related congenital afibrinogenemia10.1
21fgg-related congenital afibrinogenemia10.1
22spinal cord infarction10.1
23bacteremia10.1
24thrombophlebitis10.1F8
25vitamin k deficiency hemorrhagic disease10.1F2, F3
26atypical hemolytic-uremic syndrome10.1CD46, CFI
27sepsis10.1CFP, CFI
28peripheral vascular disease10.1VWF, F3
29central retinal vein occlusion10.1F5
30inherited hypoprothrombinemia10.1F10, F2
31purpura fulminans10.1F5
32sickle cell disease10.1VWF, CFI, FGA
33sagittal sinus thrombosis10.1F5
34endocarditis10.1F10
35hemolytic anemia10.1VWF, F3, CR1
36primary hyperoxaluria10.1F2, VWF, F3
37homocysteinemia10.1F5
38bacterial meningitis10.1CR1, CFP
39hemolytic-uremic syndrome10.1VWF, CFI, CD46
40meningococcemia10.1F5
41meningitis10.0CD46, CFI, CFP
42liver cirrhosis10.0FGA, CR1, F2
43factor xii deficiency10.0F3, F5
44patent foramen ovale10.0F5
45complement deficiency10.0CFP, C3, CR1
46hepatitis a10.0F2, F8
47stroke, ischemic10.0F2, F5
48prothrombin deficiency10.0F2, F5
49systemic scleroderma10.0VWF, CD46, FGA
50blood protein disease10.0F2, F5

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

202400

Clinical features from OMIM:

202400

Drugs & Therapeutics for Afibrinogenemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Afibrinogenemia

Genetic Tests for Afibrinogenemia

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23GTR
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Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia23

Anatomical Context for Afibrinogenemia

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34MalaCards
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MalaCards organs/tissues related to Afibrinogenemia:

34
Placenta, Prostate, Liver, Spinal cord, Uterus, Skin, Bone, Lung

Animal Models for Afibrinogenemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Afibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.2F3, C3, F5, FGG, FGA, F2
2MP:00053977.7F2, VWF, F11, F3, F8, C3
3MP:00053897.6F2, F10, F8, C3, CD46, FGG
4MP:00053877.4F2, VWF, CFP, F11, F3, F8
5MP:00036316.9F2, VWF, F11, F3, SRSF1, C3
6MP:00053856.3FGA, F2, VWF, CFP, F10, F11
7MP:00053765.9F10, CFI, CFP, VWF, F2, F11
8MP:00107685.6F11, F10, CFP, VWF, F2, F3

Publications for Afibrinogenemia

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53PubMed
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Articles related to Afibrinogenemia:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
2
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
3
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
4
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
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
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
8
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
9
A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). (17179831)
2007
10
Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. (15902668)
2005
11
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
12
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
13
Genetic analysis of a Chinese family with inherited afibrinogenemia]. (14703415)
2003
14
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. (12161363)
2002
15
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
16
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. (11001902)
2000
17
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
18
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
19
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
20
Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. (8571310)
1995
21
Congenital afibrinogenemia in Hasan Sadikin Hospital. (7886594)
1993
22
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
23
Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. (1503100)
1992
24
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
25
Afibrinogenemia following snake bite (Crotalus durissus terrificus). (7446831)
1980
26
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
27
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
28
Afibrinogenemia with severe head trauma. (5066707)
1972
29
Splenic hemangioma with thrombocytopenia and afibrinogenemia. (5667417)
1968
30
Platelet function in congenital afibrinogenemia. (5865600)
1965
31
Pathology of afibrinogenemia and fibrinogenopenia. (13959161)
1963
32
Fibrinolysis and afibrinogenemia in thoracic surgery. (13976412)
1963
33
Afibrinogenemia; etiology and management. A review of the literature. (14492342)
1962
34
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
35
Fibrinogen determinations and afibrinogenemia. (13626980)
1959
36
Afibrinogenemia; case report. (13449603)
1957
37
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
38
Obstetrical hemorrhages caused by afibrinogenemia]. (13455873)
1957
39
Afibrinogenemia resulting from amniotic fluid infusion. (13361119)
1956
40
Afibrinogenemia: incidence in a geographic area; statistical survey for 1953 and 1954. (13297308)
1956
41
Acute afibrinogenemia following elective cesarean section; report of a case. (13288967)
1956
42
Afibrinogenemia in pregnancy. (13293913)
1956
43
Afibrinogenemia as an obstetric complication. (13346479)
1956
44
Current concepts of afibrinogenemia in pregnancy. (13272002)
1955
45
Afibrinogenemia as a cause of hemorrhage in pregnancy. (13234921)
1955
46
Spontaneous afibrinogenemia in cancer of prostate: report of two cases. (13216964)
1954
47
Afibrinogenemia; its occurrence in two patients with late postpartum hemorrhage. (13133241)
1954
48
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
49
Studies on afibrinogenemia. II. The defibrinating effect on dog blood of intravenous injection of thromboplastic material. (14830934)
1951
50
Acquired afibrinogenemia in pregnancy. (18115436)
1949

Variations for Afibrinogenemia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Afibrinogenemia:

65
id Symbol AA change Variation ID SNP ID
1FGBp.Arg196CysVAR_016908
2FGBp.Leu383ArgVAR_016909
3FGBp.Gly430AspVAR_016910

Clinvar genetic disease variations for 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 Afibrinogenemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

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51PathCards, 56Reactome, 61Thomson Reuters, 13EMD Millipore, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 58SinoBiological, 55R&D Systems
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Pathways related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGG, FGA, FGB
29.8FGB, FGA, FGG
3
Show member pathways
9.8FGB, FGA, FGG
4
Show member pathways
9.7F10, F2
59.5FGG, C3, CFI
6
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.5F2, FGG, FGA, FGB
79.2FGB, FGA, FGG, VWF, F2
8
Show member pathways
9.2F2, VWF, FGG, FGA, FGB
9
Show member pathways
9.1CFI, C3, CR1, CD46
10
Show member pathways
8.7CFP, SRSF1, C3, CD46
11
Show member pathways
8.7F2, VWF, C3, FGG, FGA, FGB
12
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
8.7CFP, CFI, C3, CR1, CD46
13
Show member pathways
8.0VWF, F8, F5, FGG, FGA, FGB
14
Show member pathways
6.9F2, FGB, FGA, FGG, F5, F8
15
Show member pathways
6.6F2, VWF, F10, F11, F3, F8
16
Show member pathways
6.6F8, F3, F11, F10, VWF, F2
17
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
5.1FGB, FGA, FGG, CD46, F5, CR1

Compounds for genes affiliated with Afibrinogenemia

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46Novoseek, 12DrugBank, 3BitterDB, 52PharmGKB, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
1hemochron469.8FGA, F3, F2
2desirudin469.4F10, F3, FGA
3tirofiban46 1210.3F2, VWF, F10, F3
4batroxobin469.3F5, FGA, F2, FGB
5hydroxyethyl starch469.3F2, VWF, F3, F8
6ppack469.3F2, VWF, F10, F3, FGA
7tranexamic acid46 1210.3F3, VWF, F8, F2
8abciximab46 1210.1F3, VWF, F2, F10
9ancrod469.0FGA, F5, F10, F2
10ecarin469.0F5, F3, F2, F10
11spectrozyme469.0F10, F3, F5, F2
12danaparoid469.0F3, F5, F10, F2
13ximelagatran46 1210.0F3, F2, F5, F10
14heparinoids468.9F5, F3, F10, F2
15fondaparinux468.9F3, F10, F5, F2
16coumarins468.9F5, F3, F2, F10
17protamine sulfate468.8F5, F3, F10, F2
18inogatran468.8F2, F3, F5
19bivalirudin46 129.8F5, F3, F2, FGA, F10
20argatroban46 129.8F2, F10, F5, F3, FGA
21coumarin46 3 52 2511.7FGA, F2, F10, F3, F5
22protamine468.7F3, F5, F10, F2, FGA
23gamma-carboxyglutamic acid468.6F5, F3, F10, F2
24rfviii468.6F5, VWF, F10, F8
25kininogen468.6F11, F3, F5, CFI, F2, VWF
26hind iii468.5F8, CR1, F5, CD46
27dextran sulfate468.4F10, CFP, F5, F3, F11
28cacl2468.4FGA, F3, F10, F5, F8
29kaolin468.4F8, F2, F3, F10, F5
30dermatan sulfate468.3F3, F5, F2, VWF, F10, F11
31cardiolipin46 129.3F2, F10, F3, F8, F5
32ristocetin468.2F11, F3, F5, VWF, F2, F8
33desmopressin46 62 30 1211.2F2, F11, F5, F3, F8, VWF
34homocysteine46 259.1F8, F3, F11, VWF, F2, F5
35endotoxin468.1F8, F5, F3, F11, CR1, FGA
36aprotinin46 129.1F2, VWF, F10, FGA, F3, F11
37acetaminophen46 3 52 25 1212.1F8, F5, VWF, F2, F10
38citrate468.0F8, VWF, F5, F3, F10, F2
39epinephrine46 25 129.9F8, F3, VWF, FGA, F5, F2
40phosphatidylserine46 30 129.9F2, VWF, F10, F3, F8, F5
41warfarin46 52 25 1210.8FGA, F5, F8, F3, F2, VWF
42aspirin46 52 30 2510.8F3, VWF, F2, F10, F8, F5
43creatinine467.6FGA, F5, C3, F8, F2, F3
44lactate467.4F5, F8, F10, C3, FGA, F2
45hirudin467.3VWF, F10, F11, F3, F8, F5
46polysaccharide467.1CFP, F10, F3, CR1, F8, C3
47phospholipid466.9F5, CR1, C3, F3, F11, F10
48fibrinogen466.3F3, F11, F10, CFI, VWF, F2
49heparin46 30 25 128.9FGB, FGA, F5, CR1, C3, F8
50serine465.6F2, VWF, CFI, FGB, FGA, CD46

GO Terms for genes affiliated with Afibrinogenemia

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17Gene Ontology
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Cellular components related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:0055779.9FGG, FGA, FGB
2platelet alpha granuleGO:0310919.7VWF, FGG, FGA, FGB
3intrinsic component of external side of plasma membraneGO:0312339.6F10, F3
4extracellular matrixGO:0310129.5F3, CFP, VWF
5cell cortexGO:0059389.5FGB, FGA, FGG
6external side of plasma membraneGO:0098979.5FGB, FGA, FGG, VWF
7blood microparticleGO:0725629.2F2, C3, FGG, FGA, FGB
8cell surfaceGO:0099869.0F3, CR1, CD46, FGG, FGA, FGB
9platelet alpha granule lumenGO:0310938.3VWF, F8, F5, FGG, FGA, FGB
10extracellular vesicular exosomeGO:0700628.0VWF, CFI, F11, C3, CR1, CD46
11extracellular spaceGO:0056156.6F11, CFI, CFP, F2, F3, F8
12extracellular regionGO:0055766.1FGB, F2, VWF, CFP, CFI, F10
13plasma membraneGO:0058865.9F2, F10, F11, F3, F8, C3

Biological processes related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:05125810.0FGG, FGA, FGB
2response to calcium ionGO:0515929.9FGB, FGA, FGG
3blood coagulation, extrinsic pathwayGO:0075989.8F3, F10
4peptidyl-glutamic acid carboxylationGO:0171879.6F2, F10
5extracellular matrix organizationGO:0301989.5FGB, FGA, FGG, VWF
6complement activation, alternative pathwayGO:0069579.4C3, CFP
7proteolysisGO:0065089.3CD46, F10, F2
8complement activation, classical pathwayGO:0069589.3CD46, CR1, C3, CFI
9regulation of complement activationGO:0304499.0CFP, CFI, C3, CR1, CD46
10innate immune responseGO:0450878.8CFP, CFI, C3, CR1, CD46
11blood coagulation, intrinsic pathwayGO:0075978.6F2, VWF, F10, F11, F8
12platelet degranulationGO:0025768.3VWF, F8, F5, FGG, FGA, FGB
13platelet activationGO:0301688.0F2, VWF, F8, F5, FGG, FGA
14blood coagulationGO:0075966.9FGB, F2, VWF, F10, F11, F3

Molecular functions related to Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.8FGB, FGA, FGG
2receptor bindingGO:0051028.9F2, C3, FGG, FGA, FGB
3serine-type endopeptidase activityGO:0042527.6F5, F8, F11, F10, CFI, F2
4protein bindingGO:0055155.1F2, VWF, F10, F11, F3, SRSF1

Products for genes affiliated with Afibrinogenemia

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  • Antibodies
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Sources for Afibrinogenemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet