MCID: AFB001
MIFTS: 55

Afibrinogenemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Afibrinogenemia

About this section
Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 42 44 22 61
Familial Afibrinogenemia 42 48
Hereditary Factor I Deficiency Disease 61
 
Afibrinogenemia Congenital 42
Congenital Afibrinogenemia 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial afibrinogenemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 98880
ICD10 via Orphanet26 D68.2

Summaries for Afibrinogenemia

About this section
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

MalaCards based summary: Afibrinogenemia, also known as familial afibrinogenemia, is related to afibrinogenemia, congenital and thrombotic thrombocytopenic purpura, and has symptoms including abnormality of the menstrual cycle, gingival bleeding and epistaxis. An important gene associated with Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion Plasmin signaling and Cell adhesion ECM remodeling. The compounds hemochron and desirudin have been mentioned in the context of this disorder. Affiliated tissues include placenta, prostate and spinal cord, and related mouse phenotypes are embryogenesis and hematopoietic system.

Related Diseases for Afibrinogenemia

About this section

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

Diseases related to Afibrinogenemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia, congenital31.6FGB, FGA
2thrombotic thrombocytopenic purpura30.6CD46
3peritonitis30.4CR1, F2, CFI
4protein c deficiency30.2F2, CFP, F5
5dysfibrinogenemia30.1F2, F5, FGA
6von willebrand's disease30.0F2, F8, F3, VWF
7hepatitis29.8F2, F8, F10, CR1
8pulmonary embolism29.4FGA, F3, F10, F5, FGB, F2
9thrombocytopenia29.1FGA, CD46, F5, F8, F3, F10
10myocardial infarction28.8VWF, F11, F10, F5, F8, FGA
11carotid artery thrombosis10.5F3
12intermittent claudication10.5VWF
13angiodysplasia10.5VWF
14glanzmann thrombasthenia10.5VWF
15arthus reaction10.4CD46
16coronary thrombosis10.4VWF, F3
17thrombophlebitis10.4F8
18vitamin k deficiency hemorrhagic disease10.4F2, F3
19hemolytic uremic syndrome, atypical 110.4CD46, CFI
20peripheral vascular disease10.4F3, VWF
21central retinal vein occlusion10.3F5
22raynaud disease10.3VWF, FGA
23sickle cell disease10.3CFI, FGA, VWF
24sagittal sinus thrombosis10.3F5
25endocarditis10.3F10
26hemolytic anemia10.3CR1, F3, VWF
27primary hyperoxaluria10.3F2, VWF, F3
28homocysteinemia10.3F5
29bacterial meningitis10.2CFP, CR1
30hemolytic-uremic syndrome10.2CFI, VWF, CD46
31meningococcemia10.2F5
32meningitis10.2CFI, CD46, CFP
33liver cirrhosis10.2CR1, FGA, F2
34prostatitis10.2
35fga-related congenital afibrinogenemia10.2
36fgb-related congenital afibrinogenemia10.2
37fgg-related congenital afibrinogenemia10.2
38factor xiii deficiency10.2F5, F3
39patent foramen ovale10.2F5
40hepatitis a10.2F8, F2
41complement deficiency10.2CFP, C3, CR1
42stroke, ischemic10.2F5, F2
43systemic scleroderma10.2CD46, FGA, VWF
44hypoprothrombinemia10.2F2, F5
45blood protein disease10.1F5, F2
46membranoproliferative glomerulonephritis10.1CFP, CD46, C3
47deficiency anemia10.1VWF, F2, CR1, F3
48neisseria meningitidis infection10.1CD46, C3, CFP
49bacteremia10.1
50spinal cord infarction10.1

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

About this section

Symptoms:

 48 (show all 8)
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hydrarthrosis/articular/joint effusion
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • autosomal recessive inheritance
  • spontaneous abortions
  • intracranial/cerebral/meningeal hemorrhage

HPO human phenotypes related to Afibrinogenemia:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the menstrual cycle hallmark (90%) HP:0000140
2 gingival bleeding hallmark (90%) HP:0000225
3 epistaxis hallmark (90%) HP:0000421
4 joint swelling hallmark (90%) HP:0001386
5 abnormality of coagulation hallmark (90%) HP:0001928
6 spontaneous abortion hallmark (90%) HP:0005268
7 intracranial hemorrhage occasional (7.5%) HP:0002170

Drugs & Therapeutics for Afibrinogenemia

About this section

Drug clinical trials:

Search ClinicalTrials for Afibrinogenemia

Search NIH Clinical Center for Afibrinogenemia

Genetic Tests for Afibrinogenemia

About this section

Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia22

Anatomical Context for Afibrinogenemia

About this section

MalaCards organs/tissues related to Afibrinogenemia:

31
Placenta, Prostate, Spinal cord, Liver, Uterus, Bone, Kidney, Lung, Skin

Animal Models for Afibrinogenemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Afibrinogenemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.2F3, C3, F5, FGG, FGA, F2
2MP:00053977.7FGG, C3, F8, F3, F11, VWF
3MP:00053897.6FGA, F2, F10, F8, C3, CD46
4MP:00053877.4CFP, FGG, FGA, F8, F3, F11
5MP:00036316.9F2, VWF, F11, F3, SRSF1, C3
6MP:00053856.3SRSF1, F2, VWF, CFP, F10, F11
7MP:00053765.9FGA, FGG, VWF, CFP, CFI, F10
8MP:00107685.6F5, SRSF1, F2, FGA, FGG, C3

Publications for Afibrinogenemia

About this section

Articles related to Afibrinogenemia:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. (25421938)
2015
2
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
3
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
4
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
5
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
6
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
7
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
8
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
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
Fibrinogenolytic afibrinogenemia after envenomation by western diamondback rattlesnake (Crotalus atrox). (6537796)
1984
26
Afibrinogenemia following snake bite (Crotalus durissus terrificus). (7446831)
1980
27
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
28
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
29
Afibrinogenemia with severe head trauma. (5066707)
1972
30
Splenic hemangioma with thrombocytopenia and afibrinogenemia. (5667417)
1968
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

About this section

Expression for genes affiliated with Afibrinogenemia

About this section
Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

About this section

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGG, FGA, FGB
2
Show member pathways
Metalloproteases in connective tissue degradation
9.8FGG, FGA, FGB
39.8FGB, FGA, FGG
4
Show member pathways
9.7F10, F2
59.5CFI, C3, FGG
6
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.5FGG, FGA, FGB, F2
7
Show member pathways
9.2VWF, FGA, FGB, F2, FGG
89.2VWF, FGB, FGA, FGG, F2
9
Show member pathways
9.1CD46, CR1, C3, CFI
10
Show member pathways
8.7CD46, CFP, SRSF1, C3
11
Show member pathways
8.7FGB, FGG, C3, VWF, F2, FGA
12
Show member pathways
Immune response Alternative complement pathway59
Immune response Lectin Induced complement pathway59
Immune response Classic complement pathway59
8.7CFP, CFI, C3, CR1, CD46
13
Show member pathways
8.0FGB, FGA, F5, F8, FGG, VWF
14
Show member pathways
6.9FGB, FGA, F5, F3, F11, F10
15
Show member pathways
6.6VWF, F10, FGA, FGB, F2, FGG
16
Show member pathways
6.6VWF, FGB, FGA, F10, FGG, F5
17
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
5.1F8, CR1, FGB, F3, F2, C3

Compounds for genes affiliated with Afibrinogenemia

About this section

Compounds related to Afibrinogenemia according to GeneCards Suite gene sharing:

(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 1 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 60 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 1 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

About this section

Cellular components related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:00055779.9FGG, FGA, FGB
2platelet alpha granuleGO:00310919.7FGB, VWF, FGG, FGA
3intrinsic component of external side of plasma membraneGO:00312339.6F10, F3
4extracellular matrixGO:00310129.5VWF, CFP, F3
5cell cortexGO:00059389.5FGG, FGA, FGB
6external side of plasma membraneGO:00098979.5VWF, FGB, FGA, FGG
7blood microparticleGO:00725629.2FGB, C3, FGG, FGA, F2
8cell surfaceGO:00099869.0CR1, CD46, FGB, FGA, FGG, F3
9platelet alpha granule lumenGO:00310938.3FGG, VWF, F8, F5, FGA, FGB
10extracellular vesicular exosomeGO:00700628.0VWF, FGG, CD46, C3, F11, CFI
11extracellular spaceGO:00056156.6F8, F3, F11, CFI, CFP, F2
12extracellular regionGO:00055766.1FGB, F2, VWF, CFP, CFI, F10
13plasma membraneGO:00058865.9F2, F11, F3, FGB, FGA, FGG

Biological processes related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:005125810.0FGB, FGA, FGG
2response to calcium ionGO:00515929.9FGG, FGB, FGA
3blood coagulation, extrinsic pathwayGO:00075989.8F3, F10
4peptidyl-glutamic acid carboxylationGO:00171879.6F2, F10
5extracellular matrix organizationGO:00301989.5VWF, FGA, FGB, FGG
6complement activation, alternative pathwayGO:00069579.4CFP, C3
7proteolysisGO:00065089.3CD46, F2, F10
8complement activation, classical pathwayGO:00069589.3CFI, CD46, C3, CR1
9regulation of complement activationGO:00304499.0C3, CFP, CD46, CFI, CR1
10innate immune responseGO:00450878.8CR1, CD46, CFP, C3, CFI
11blood coagulation, intrinsic pathwayGO:00075978.6F8, F2, VWF, F10, F11
12platelet degranulationGO:00025768.3FGB, FGA, FGG, F5, F8, VWF
13platelet activationGO:00301688.0F5, F2, VWF, F8, FGG, FGA
14blood coagulationGO:00075966.9FGA, F5, FGG, F3, FGB, F11

Molecular functions related to Afibrinogenemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.8FGB, FGA, FGG
2receptor bindingGO:00051028.9F2, C3, FGG, FGA, FGB
3serine-type endopeptidase activityGO:00042527.6F5, F8, F11, F10, CFI, F2
4protein bindingGO:00055155.1F2, VWF, F10, F11, F3, SRSF1

Sources for Afibrinogenemia

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet