MCID: DYS026
MIFTS: 50

Dysfibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

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Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek, 24GTR, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dysfibrinogenemia:

Name: Dysfibrinogenemia 45 47 24 65
Dysfibrinogenemia, Congenital 65
Congenital Dysfibrinogenemia 45
 
Dysfibrinogenemia, Familial 45
Familial Dysfibrinogenemia 51

Characteristics:

Orphanet epidemiological data:

51
familial dysfibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

Orphanet51 98881
ICD10 via Orphanet28 D68.2
UMLS65 C1260903, C0272350

Summaries for Dysfibrinogenemia

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NIH Rare Diseases:45 Dysfibrinogenemia is a rare coagulation disorder caused by a mutation in the gene controlling the production of fibrinogen in the liver. it causes the liver to make an abnormal fibrinogen, one that resists degradation when converted to fibrin. dysfibrinogenemia may increase a person's risk of venous thrombosis or rarely cause a mild bleeding tendency. pt, ptt, and thrombin time tests are used to screen for this condition, which is then confirmed with additional specialized blood tests. patients with dysfibrinogenemia may experience poor wound healing. hereditary transmission is autosomal dominant or codominant except in a few cases that appear to be transmitted recessively. last updated: 12/9/2009

MalaCards based summary: Dysfibrinogenemia, also known as dysfibrinogenemia, congenital, is related to liver disease and thrombophilia, and has symptoms including gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia, hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding and epistaxis/nose bleeding. An important gene associated with Dysfibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways are MAP2K and MAPK activation and Platelet activation. Affiliated tissues include liver, testes and brain, and related mouse phenotypes are liver/biliary system and embryo.

Wikipedia:68 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Related Diseases for Dysfibrinogenemia

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Diseases in the Dysfibrinogenemia family:

Dysfibrinogenemia, Congenital

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

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1liver disease30.1ALB, F2, SERPINC1
2thrombophilia29.5F2, F5, SERPINC1
3dysfibrinogenemia, congenital12.2
4spinocerebellar atrophy10.5F5, SERPINC1
5lateral sinus thrombosis10.5F5, SERPINC1
6tetanus10.5ALB, F5
7sertoli cell tumor10.5F5, SERPINC1
8hypoganglionosis10.5FGA, FGB, FGG
9peripheral motor neuropathy-dysautonomia syndrome10.5FGA, FGB, FGG
10congenital chloride diarrhea10.5FGA, SERPINC1
11amyloidosis, familial visceral10.5FGA, FGB, FGG
12panic disorder10.5F5, SERPINC1
13angioedema, hereditary, type iii10.4F5, SERPINC1
14angioedema10.4ALB, F13A1
15coagulation protein disease10.3F13A1, F5
16askin's tumor10.3ALB, F2
17tall stature-scoliosis-macrodactyly of the great toes syndrome10.3F2, F5
18hemolytic-uremic syndrome10.3ALB, F2
19splenic abscess10.3ALB, F2
20duodenogastric reflux10.3ALB, F2
21liver failure acute infantile10.3F2, F5
22sugarman brachydactyly10.3F2, F5
23internuclear ophthalmoplegia10.3F2, F5
24microscopic colitis10.3F2, F5
25t cell deficiency10.3ALB, F2
26pancreatoblastoma10.3ALB, F2
27dysthymic disorder10.3F2, F5
28myopathy of extraocular muscle10.3F13A1, F5
29pontocerebellar hypoplasia10.3F2, F5
30diverticulitis of colon10.3F2, F5
31facioscapulohumeral muscular dystrophy 110.3F2, F5
32moderately severe hemophilia a10.3F2, F5
33acute lymphoblastic leukemia, childhood10.3ALB, F2
34iron deficiency anemia10.3ALB, F2
35esophagus melanoma10.3F2, SERPINC1
36oral squamous cell carcinoma10.3F2, F5
37cyclothymic disorder10.3F2, SERPINC1
38homocystinuria due to cbs deficiency10.2F2, F5
39cavernous hemangioma of colon10.2F2, SERPINC1
40silo filler's disease10.2F2, SERPINC1
41multicentric reticulohistiocytosis10.2ALB, F2
42abducens nerve neoplasm10.2F2, SERPINC1
43irak4 deficiency10.2F2, F5
44inferior myocardial infarction10.2F2, SERPINC1
45brain edema10.2ALB, F13A1
46kidney sarcoma10.2F2, SERPINC1
47pulmonary fibrosis, familial10.2F13A1, F2
48nephropathia epidemica10.2F2, SERPINC1
49acute cholangitis10.2ALB, F2
50thrombocytopenia cerebellar hypoplasia short stature10.2F2, F5

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Symptoms for Dysfibrinogenemia

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Symptoms:

 51
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • autosomal dominant inheritance
  • venous thrombosis/phlebitis/thrombophlebitis

Drugs & Therapeutics for Dysfibrinogenemia

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Drugs for Dysfibrinogenemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Fibrinolytic Agents1567
2Factor VIII272
3Anticoagulants1760

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fibrinogen Early In Severe Trauma studYNot yet recruitingNCT02745041Phase 2
2Ex Vivo Laboratory Assays Application for Therapy Tailoring in Patients With Severe Bleeding DisordersRecruitingNCT02324517

Search NIH Clinical Center for Dysfibrinogenemia

Genetic Tests for Dysfibrinogenemia

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Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

33
Liver, Testes, Brain, Colon, Prostate, Tongue, Breast

Animal Models for Dysfibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Dysfibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ALB, F5, FGA, SERPINC1, THBD
2MP:00053808.4F2, F5, FGA, FGG, SERPINC1, THBD
3MP:00053888.0F13A1, F2, FGG, PLAT, THBD
4MP:00053817.9ALB, F2, FGA, PLAT, THBD
5MP:00053897.3F13A1, F2, FGA, FGG, PLAT, SERPINC1
6MP:00053976.7F13A1, F2, FGA, FGG, PLAT, SERPINC1
7MP:00053856.0F13A1, F2, F5, FGA, FGG, PLAT
8MP:00053765.9ALB, F13A1, F2, F5, FGA, FGG
9MP:00107685.8ALB, F13A1, F2, F5, FGA, FGG

Publications for Dysfibrinogenemia

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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. (26510121)
2015
2
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. (26460252)
2015
3
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. (25613923)
2015
4
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
5
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
6
A dysfibrinogenemia leading to resistance to bovine thrombin. (25103594)
2014
7
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
8
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
9
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
10
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
2012
11
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
12
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
13
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
14
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
15
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
16
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
17
Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. (17492257)
2007
18
Hematopoietic stem cell transplantation for Hodgkin's disease in a patient with dysfibrinogenemia and thrombosis. (17131175)
2007
19
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
20
Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen]. (15793786)
2005
21
New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl. (12669117)
2003
22
Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. (12956852)
2003
23
Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti. (11672582)
2001
24
Confirmation of mendelian properties of heterodimeric fibrinogen molecules in a heterozygotic dysfibrinogenemia, "fibrinogen Amarillo," using gprphoresis to differentiate semifibrin molecules from fibrinogen and fibrin. (11342210)
2001
25
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
26
Erythrocyte hyperaggregation and thrombogenic dysfibrinogenemia. (9741663)
1998
27
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
28
Fibrinogen Guarenas I: partial characterization of a new dysfibrinogenemia with an altered rate of fibrinopeptide release and an impaired polymerization. (7482436)
1995
29
Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain. (8470043)
1993
30
Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His). (1521828)
1992
31
Dysfibrinogenemia associated with thrombosis and third-trimester fetal loss. A case report. (2061889)
1991
32
Fibrinogen Milano. VI: A heterozygous dysfibrinogenemia (A alpha 16 Arg----His) with bleeding tendency. (2379562)
1990
33
Fibrinogen Sapporo: dysfibrinogenemia characterized by the replacement of A alpha arginine-16 by histidine resulting in the delayed release of fibrinopeptide A by thrombin. (2588959)
1989
34
Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. (3345340)
1988
35
Spontaneous reversal of acquired autoimmune dysfibrinogenemia probably due to an antiidiotypic antibody directed to an interspecies cross-reactive idiotype expressed on antifibrinogen antibodies. (3262127)
1988
36
Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit. (3175983)
1988
37
Fibrinogen Barcelona I. Congenital dysfibrinogenemia characterized by defective release of fibrinopeptide A and fibrinogen degradation products. (2954261)
1987
38
Fibrinogen Vicenza and Genova II: two new cases of congenital dysfibrinogenemia with isolated defect of fibrin monomer polymerization and inhibitory activity on normal coagulation. (2958952)
1987
39
Two cases of dysfibrinogenemia characterized by abnormal FPB release: fibrinogen Madrid I & II. (3109061)
1987
40
Dysfibrinogenemia and lupus anticoagulant in a patient with recurrent thrombosis. (3119749)
1987
41
Dysfibrinogenemia (fibrinogen Dusard) associated with impaired fibrin-enhanced plasminogen activation. (6539000)
1984
42
Hereditary dysfibrinogenemia in a patient with thrombotic disease. (6191801)
1983
43
The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. (6839020)
1983
44
Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules. (6217586)
1982
45
A kinetic method for characterization of heterogenous fibrinogen and its application to fibrinogen Grand Rapids, a congenital dysfibrinogenemia. (6217579)
1982
46
Fibrinogen Petoskey: identification of a new dysfibrinogenemia characterized by altered release of fibrinopeptide A. (6459662)
1981
47
Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family. (312982)
1979
48
Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release. (5564389)
1971
49
Dysfibrinogenemia in a patient with primary hepatoma. First observation of an acquired abnormality of fibrin monomer aggregation. (4303132)
1969
50

Variations for Dysfibrinogenemia

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Expression for genes affiliated with Dysfibrinogenemia

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Search GEO for disease gene expression data for Dysfibrinogenemia.

Pathways for genes affiliated with Dysfibrinogenemia

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Pathways related to Dysfibrinogenemia according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.6FGA, FGB, FGG
29.6FGA, FGB, FGG
3
Show member pathways
9.6FGA, FGB, FGG
4
Show member pathways
8.9F2, FGA, FGB, FGG
5
Show member pathways
8.9F2, FGA, FGB, FGG
68.9F2, FGA, FGB, FGG
78.7FGA, FGB, FGG, PLAT
8
Show member pathways
8.5ALB, F2, PLAT
9
Show member pathways
7.2F13A1, F2, F5, FGA, FGB, FGG
10
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
11
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
12
Show member pathways
5.5ALB, F13A1, F2, F5, FGA, FGB

GO Terms for genes affiliated with Dysfibrinogenemia

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.7F5, FGA, FGB, FGG
2blood microparticleGO:00725629.4F13A1, FGA, FGB, FGG
3extracellular regionGO:00055768.5F5, PLAT, SERPINC1, SERPIND1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of heterotypic cell-cell adhesionGO:003411610.0FGA, FGB, FGG
2negative regulation of endothelial cell apoptotic processGO:20003529.9FGA, FGB, FGG
3fibrinolysisGO:00427309.9FGA, FGB, FGG
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9FGA, FGB, FGG
5platelet degranulationGO:00025769.7FGA, FGB, FGG
6response to calcium ionGO:00515929.7FGA, FGB, FGG
7positive regulation of exocytosisGO:00459219.7FGA, FGB, FGG
8plasminogen activationGO:00316399.6FGA, FGB, FGG
9platelet activationGO:00301688.6ALB, F13A1, FGA, FGB, FGG
10blood coagulationGO:00075968.5F13A1, F2, F5, FGA

Sources for Dysfibrinogenemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet