MCID: AFB001
MIFTS: 62

Afibrinogenemia malady

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

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Genetics Home Reference:21 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 based summary: Afibrinogenemia, also known as congenital afibrinogenemia, is related to peritonitis and dysfibrinogenemia, and has symptoms including 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 liver, skin and spleen, and related mouse phenotypes are embryogenesis and hematopoietic system.

NIH Rare Diseases:42 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 fibrinogen (or factor i), which is needed for the blood to clot. 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:65 Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally... more...

Description from OMIM:46 202400

Aliases & Classifications for Afibrinogenemia

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Afibrinogenemia, Aliases & Descriptions:

Name: Afibrinogenemia 42 22 21 44 62
Congenital Afibrinogenemia 42 21 10 44 62
Familial Afibrinogenemia 21 62
 
Afibrinogenemia, Congenital 46
Afibrinogenemia Congenital 42


Classifications:

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


Related Diseases for 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 Afibrinogenemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1peritonitis30.4F2, CFI, CR1
2dysfibrinogenemia30.3F2, F5, FGA
3protein c deficiency30.2F2, CFP, F5
4von willebrand's disease30.0F2, VWF, F3, F8
5hepatitis29.8F2, F10, F8, CR1
6pulmonary embolism29.4F2, F10, F3, F5, FGA, FGB
7thrombocytopenia29.1CD46, FGA, F5, F8, F2, VWF
8myocardial infarction28.8VWF, F10, F11, F3, F8, F5
9thromboembolism28.7F2, VWF, F10, F11, F3, F8
10venous thrombosis28.6F2, VWF, F10, F11, F3, F8
11congenital afibrinogenemia11.0
12carotid artery thrombosis10.5F3
13intermittent claudication10.5VWF
14angiodysplasia10.5VWF
15glanzmann's thrombasthenia10.5VWF
16arthus reaction10.4CD46
17thrombotic thrombocytopenic purpura, acquired10.4CD46
18coronary thrombosis10.4VWF, F3
19thrombophlebitis10.4F8
20vitamin k deficiency hemorrhagic disease10.4F2, F3
21atypical hemolytic-uremic syndrome10.4CD46, CFI
22peripheral vascular disease10.4VWF, F3
23central retinal vein occlusion10.3F5
24inherited hypoprothrombinemia10.3F10, F2
25sickle cell disease10.3VWF, CFI, FGA
26endocarditis10.3F10
27sagittal sinus thrombosis10.3F5
28hemolytic anemia10.3VWF, F3, CR1
29primary hyperoxaluria10.3F2, VWF, F3
30homocysteinemia10.3F5
31bacterial meningitis10.2CR1, CFP
32hemolytic-uremic syndrome10.2VWF, CFI, CD46
33meningococcemia10.2F5
34meningitis10.2CD46, CFI, CFP
35liver cirrhosis10.2FGA, CR1, F2
36factor xii deficiency10.2F3, F5
37prostatitis10.2
38patent foramen ovale10.2F5
39complement deficiency10.2CFP, C3, CR1
40hepatitis a10.2F2, F8
41stroke, ischemic10.2F2, F5
42systemic scleroderma10.2VWF, CD46, FGA
43prothrombin deficiency10.2F2, F5
44blood protein disease10.2F2, F5
45membranoproliferative glomerulonephritis10.1CD46, C3, CFP
46deficiency anemia10.1F2, VWF, F3, CR1
47neisseria meningitidis infection10.1CFP, C3, CD46
48prion disease10.1F8, F3, VWF
49fga-related congenital afibrinogenemia10.1
50fgb-related congenital afibrinogenemia10.1

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

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Symptoms by clinical synopsis from OMIM:

202400

Clinical features from OMIM:

202400

HPO human phenotypes related to Afibrinogenemia:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormal bleeding HP:0001892
3 hypofibrinogenemia HP:0011900
4 splenic rupture HP:0012223

Drugs & Therapeutics for Afibrinogenemia

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Drug clinical trials:

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Search NIH Clinical Center for Afibrinogenemia

Genetic Tests for Afibrinogenemia

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Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia22

Anatomical Context for Afibrinogenemia

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MalaCards organs/tissues related to Afibrinogenemia:

32
Liver, Skin, Spleen, Brain, Tongue, Placenta, Prostate, Spinal cord, Uterus, Bone, Kidney, Lung

Animal Models for Afibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia:

36
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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Articles related to Afibrinogenemia:

(show top 50)    (show all 218)
idTitleAuthorsYear
1
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
2
Treatment of afibrinogenemia in a chihuahua. (23148136)
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
A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). (17179831)
2007
9
Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. (15902668)
2005
10
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
11
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
12
Genetic analysis of a Chinese family with inherited afibrinogenemia]. (14703415)
2003
13
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. (12161363)
2002
14
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
15
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. (11001902)
2000
16
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
17
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
18
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
19
Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. (8571310)
1995
20
Congenital afibrinogenemia in Hasan Sadikin Hospital. (7886594)
1993
21
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
22
Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. (1503100)
1992
23
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
24
Fibrinogenolytic afibrinogenemia after envenomation by western diamondback rattlesnake (Crotalus atrox). (6537796)
1984
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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UniProtKB/Swiss-Prot genetic disease variations for Afibrinogenemia:

64
id Symbol AA change Variation ID SNP ID
1FGBp.Arg196CysVAR_016908
2FGBp.Leu383ArgVAR_016909
3FGBp.Gly430AspVAR_016910

Expression for genes affiliated with Afibrinogenemia

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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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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 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
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 pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
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 Pathway37
Complement and Coagulation Cascades37
5.1FGB, FGA, FGG, CD46, F5, CR1

Compounds for genes affiliated with Afibrinogenemia

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Compounds related to Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
1hemochron449.8FGA, F3, F2
2desirudin449.4F10, F3, FGA
3tirofiban44 1110.3F2, VWF, F10, F3
4batroxobin449.3F5, FGA, F2, FGB
5hydroxyethyl starch449.3F2, VWF, F3, F8
6ppack449.3F2, VWF, F10, F3, FGA
7tranexamic acid44 1110.3F3, VWF, F8, F2
8abciximab44 1110.1F3, VWF, F2, F10
9ancrod449.0FGA, F5, F10, F2
10ecarin449.0F5, F3, F2, F10
11spectrozyme449.0F10, F3, F5, F2
12danaparoid449.0F3, F5, F10, F2
13ximelagatran44 1110.0F3, F2, F5, F10
14heparinoids448.9F5, F3, F10, F2
15fondaparinux448.9F3, F10, F5, F2
16coumarins448.9F5, F3, F2, F10
17protamine sulfate448.8F5, F3, F10, F2
18inogatran448.8F2, F3, F5
19bivalirudin44 119.8F5, F3, F2, FGA, F10
20argatroban44 119.8F2, F10, F5, F3, FGA
21coumarin44 2 50 2411.7FGA, F2, F10, F3, F5
22protamine448.7F3, F5, F10, F2, FGA
23gamma-carboxyglutamic acid448.6F5, F3, F10, F2
24rfviii448.6F5, VWF, F10, F8
25kininogen448.6F11, F3, F5, CFI, F2, VWF
26hind iii448.5F8, CR1, F5, CD46
27dextran sulfate448.4F10, CFP, F5, F3, F11
28cacl2448.4FGA, F3, F10, F5, F8
29kaolin448.4F8, F2, F3, F10, F5
30dermatan sulfate448.3F3, F5, F2, VWF, F10, F11
31cardiolipin44 119.3F2, F10, F3, F8, F5
32ristocetin448.2F11, F3, F5, VWF, F2, F8
33desmopressin44 61 28 1111.2F2, F11, F5, F3, F8, VWF
34homocysteine44 249.1F8, F3, F11, VWF, F2, F5
35endotoxin448.1F8, F5, F3, F11, CR1, FGA
36aprotinin44 119.1F2, VWF, F10, FGA, F3, F11
37acetaminophen44 2 50 24 1112.1F8, F5, VWF, F2, F10
38citrate448.0F8, VWF, F5, F3, F10, F2
39epinephrine44 24 119.9F8, F3, VWF, FGA, F5, F2
40phosphatidylserine44 28 119.9F2, VWF, F10, F3, F8, F5
41warfarin44 50 24 1110.8FGA, F5, F8, F3, F2, VWF
42aspirin44 50 28 2410.8F3, VWF, F2, F10, F8, F5
43creatinine447.6FGA, F5, C3, F8, F2, F3
44lactate447.4F5, F8, F10, C3, FGA, F2
45hirudin447.3VWF, F10, F11, F3, F8, F5
46polysaccharide447.1CFP, F10, F3, CR1, F8, C3
47phospholipid446.9F5, CR1, C3, F3, F11, F10
48fibrinogen446.3F3, F11, F10, CFI, VWF, F2
49heparin44 28 24 118.9FGB, FGA, F5, CR1, C3, F8
50serine445.6F2, VWF, CFI, FGB, FGA, CD46

GO Terms for genes affiliated with Afibrinogenemia

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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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Sources for 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