MCID: DYS026
MIFTS: 60

Dysfibrinogenemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Dysfibrinogenemia

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NIH Rare Diseases:43 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 hereditary dysfibrinogenemia, is related to liver disease and pulmonary hypertension, and has symptoms including gingival bleeding, epistaxis and abnormality of coagulation. An important gene associated with Dysfibrinogenemia is FGA (fibrinogen alpha chain), and among its related pathways are Integrin cell surface interactions and Degradation of the extracellular matrix. The compounds sucralfate and inogatran have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone marrow, and related mouse phenotypes are liver/biliary system and respiratory system.

Wikipedia:65 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Aliases & Classifications for Dysfibrinogenemia

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Dysfibrinogenemia, Aliases & Descriptions:

Name: Dysfibrinogenemia 43 45 24 62
Hereditary Dysfibrinogenemia 62
Congenital Dysfibrinogenemia 43
 
Dysfibrinogenemia, Familial 43
Familial Dysfibrinogenemia 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial dysfibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Orphanet49 98881
ICD10 via Orphanet28 D68.2

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/GeneDecks gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1liver disease30.5F2, SERPINC1, ALB, F5
2pulmonary hypertension30.3THBD, FGA
3sneddon syndrome30.1SERPINC1
4afibrinogenemia, congenital30.0FGB, FGA
5placental abruption30.0F5, SERPINC1
6vascular disease30.0SERPINC1, SERPIND1, THBD
7von willebrand's disease30.0F2, F5
8protein c deficiency29.9F2, THBD, SERPIND1, SERPINC1, F5
9factor vii deficiency29.9F2, F10, SERPINC1, F5
10liver cirrhosis29.9F2, F10, SERPINC1, ALB
11afibrinogenemia29.9FGB, FGA, FGG, F5, F10, F2
12thrombophilia29.8F2, THBD, F13A1, F10, FGA, F5
13dysfibrinogenemia, congenital10.3
14multiple myeloma10.1
15myeloma10.1
16chronic thromboembolic pulmonary hypertension10.1
17mediterranean spotted fever10.1THBD
18hypersplenism10.1F2
19dengue shock syndrome10.1THBD
20purpura10.1SERPINC1
21branch retinal artery occlusion10.0F5
22central retinal artery occlusion10.0PLAT
23homocysteinemia10.0F5
24factor viii deficiency10.0F5
25patent foramen ovale10.0F5
26endophthalmitis10.0PLAT
27eclampsia10.0SERPINC1, THBD
28bernard-soulier syndrome, type c10.0F2, FGA
29factor xiii deficiency10.0F13A1, F5
30retinal vein occlusion10.0SERPINC1, F5
31factor xii deficiency10.0F5, SERPINC1
32post-thrombotic syndrome10.0SERPINC1, F5
33legg-calve-perthes disease10.0F5, SERPINC1
34factor xi deficiency, autosomal recessive10.0F5, F2
35sagittal sinus thrombosis10.0SERPINC1, F5
36budd-chiari syndrome10.0SERPINC1, F5
37miller syndrome10.0PLAT, THBD
38stroke, ischemic10.0F5, F2
39coronary thrombosis10.0SERPINC1, PLAT
40esophageal varix10.0F2, ALB
41severe pre-eclampsia10.0SERPINC1, F5
42hemorrhagic disease10.0SERPIND1, PLAT
43peripheral vascular disease10.0THBD, PLAT
44factor v deficiency10.0F2, F5
45hellp syndrome10.0SERPINC1, F5
46acute liver failure10.0F2, ALB
47hepatorenal syndrome10.0F2, ALB
48varicose veins10.0F2, ALB
49intermediate coronary syndrome10.0SERPINC1, PLAT
50central retinal vein occlusion10.0F5, PLAT

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Symptoms for Dysfibrinogenemia

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Symptoms:

 49
  • 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

HPO human phenotypes related to Dysfibrinogenemia:

id Description Frequency HPO Source Accession
1 gingival bleeding hallmark (90%) HP:0000225
2 epistaxis hallmark (90%) HP:0000421
3 abnormality of coagulation hallmark (90%) HP:0001928
4 gastrointestinal hemorrhage hallmark (90%) HP:0002239
5 thrombophlebitis typical (50%) HP:0004418

Drugs & Therapeutics for Dysfibrinogenemia

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Drug clinical trials:

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Search NIH Clinical Center for Dysfibrinogenemia

Genetic Tests for Dysfibrinogenemia

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Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia24

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

33
Liver, Testes, Bone marrow, Bone, Kidney

Animal Models for Dysfibrinogenemia or affiliated genes

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Publications for Dysfibrinogenemia

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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. (25613923)
2015
2
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
3
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
4
A dysfibrinogenemia leading to resistance to bovine thrombin. (25103594)
2014
5
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
6
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
7
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
8
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
9
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
2012
10
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
11
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
12
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
13
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
14
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
15
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
16
Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. (17492257)
2007
17
Hematopoietic stem cell transplantation for Hodgkin's disease in a patient with dysfibrinogenemia and thrombosis. (17131175)
2007
18
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
19
Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen]. (15793786)
2005
20
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
21
Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. (12956852)
2003
22
Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti. (11672582)
2001
23
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
24
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
25
Erythrocyte hyperaggregation and thrombogenic dysfibrinogenemia. (9741663)
1998
26
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
27
Fibrinogen Guarenas I: partial characterization of a new dysfibrinogenemia with an altered rate of fibrinopeptide release and an impaired polymerization. (7482436)
1995
28
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
29
Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His). (1521828)
1992
30
Dysfibrinogenemia associated with thrombosis and third-trimester fetal loss. A case report. (2061889)
1991
31
Fibrinogen Milano. VI: A heterozygous dysfibrinogenemia (A alpha 16 Arg----His) with bleeding tendency. (2379562)
1990
32
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
33
Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. (3345340)
1988
34
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
35
Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit. (3175983)
1988
36
Fibrinogen Barcelona I. Congenital dysfibrinogenemia characterized by defective release of fibrinopeptide A and fibrinogen degradation products. (2954261)
1987
37
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
38
Two cases of dysfibrinogenemia characterized by abnormal FPB release: fibrinogen Madrid I & II. (3109061)
1987
39
Dysfibrinogenemia and lupus anticoagulant in a patient with recurrent thrombosis. (3119749)
1987
40
Dysfibrinogenemia (fibrinogen Dusard) associated with impaired fibrin-enhanced plasminogen activation. (6539000)
1984
41
Fibrinogen LogroA+o. A new case of congenital dysfibrinogenemia. (6522973)
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 New Orleans: hereditary dysfibrinogenemia with an A alpha chain abnormality. (6801812)
1982
47
Fibrinogen Petoskey: identification of a new dysfibrinogenemia characterized by altered release of fibrinopeptide A. (6459662)
1981
48
Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family. (312982)
1979
49
Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release. (5564389)
1971
50
Dysfibrinogenemia in a patient with primary hepatoma. First observation of an acquired abnormality of fibrin monomer aggregation. (4303132)
1969

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/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGB, FGA, FGG
2
Show member pathways
9.6FGG, FGA, FGB
39.6ALB, F13A1
49.5SERPINC1, ALB
59.5ALB, F2
6
Show member pathways
9.2F10, F2
7
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
9.2F2, FGG, FGA, FGB
89.2F2, FGG, FGA, FGB
9
Show member pathways
9.2F2, FGG, FGA, FGB
10
Show member pathways
9.0PLAT, FGG, FGA, FGB
119.0PLAT, FGG, FGA, FGB
12
Show member pathways
thioredoxin pathway38
8.9ALB, PLAT, F2
13
Show member pathways
8.2F13A1, ALB, F5, FGG, FGA, FGB
14
Show member pathways
6.7F2, THBD, F13A1, F10, SERPINC1, F5
15
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
5.8F10, SERPIND1, SERPINC1, PLAT, F5, FGG
16
Show member pathways
5.8F13A1, F10, SERPIND1, SERPINC1, PLAT, F5
17
Show member pathways
5.5F2, THBD, F13A1, F10, SERPINC1, PLAT

Compounds for genes affiliated with Dysfibrinogenemia

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Compounds related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 165)
idCompoundScoreTop Affiliating Genes
1sucralfate45 1310.5FGB, ALB, FGG, FGA
2inogatran459.3F5, SERPINC1, F2
3heparin sodium459.3THBD, PLAT, F2
4dextran 70459.0PLAT, F2, ALB
5desirudin458.9FGA, PLAT, F10
6hirugen458.9FGA, F5, SERPINC1, THBD, F2
7cacl2458.8THBD, F10, F5, FGA
8fibrinopeptide a458.8PLAT, F2, THBD, SERPINC1, FGA
9efegatran458.8F10, PLAT, SERPINC1
10ristocetin458.7SERPINC1, PLAT, F5, F2
11batroxobin458.7FGB, FGA, PLAT, F2, F5
12levonorgestrel45 61 30 1311.7SERPINC1, PLAT, F2, F5
13benzamidine45 139.7F5, SERPINC1, F10, THBD
14ecarin458.7F5, SERPINC1, F10, F2
15danaparoid458.6F2, F10, F5, SERPINC1
16gamma-carboxyglutamic acid458.6THBD, F10, F5, F2
17pge1458.6PLAT, F5, THBD, F2, FGA
18tirofiban45 139.5F2, F10, SERPINC1, PLAT
19desmopressin45 61 30 1311.5THBD, PLAT, F2, F5, SERPINC1
20abciximab45 139.4F10, F2, SERPINC1, PLAT
21coumarin45 3 51 2611.4F2, FGA, SERPINC1, F10, F5
22ximelagatran45 139.3F5, F10, SERPINC1, THBD, F2
23prostacyclin458.3PLAT, F5, THBD, SERPINC1, FGA
24ppack458.3F2, F10, SERPINC1, FGA, PLAT
25cardiolipin45 139.2F5, THBD, F10, F2
26clopidogrel45 51 26 1311.2F2, SERPINC1, PLAT, F10
27spectrozyme458.1PLAT, F5, SERPINC1, F10, F2
28protamine sulfate458.0F5, PLAT, SERPINC1, F10, F2
29heparinoids458.0F5, F10, F13A1, THBD, F2, SERPINC1
30homocysteine45 269.0F5, THBD, ALB, PLAT, SERPINC1, F2
31polyethylene glycol457.8SERPINC1, F5, ALB, THBD, F2, F10
32protamine457.8PLAT, F5, SERPINC1, FGA, F10, F2
33simvastatin45 51 61 30 26 1312.8THBD, F5, F10, PLAT, F2
34citrate457.8F5, SERPINC1, F10, THBD, ALB, F2
35fondaparinux457.7F5, PLAT, SERPINC1, F10, THBD, F2
36creatinine457.7FGA, F2, SERPINC1, PLAT, ALB, F5
37kininogen457.7THBD, F2, F13A1, SERPINC1, F5, ALB
38ascorbic acid45 268.5ALB, SERPINC1, PLAT, F5, F10, THBD
39ancrod457.5PLAT, SERPINC1, F10, THBD, F2, F5
40bivalirudin45 138.5FGA, F5, PLAT, SERPINC1, F10, THBD
41argatroban45 138.5FGA, F5, PLAT, SERPINC1, F10, THBD
42aprotinin45 138.4SERPINC1, PLAT, F10, F5, FGA, THBD
43dermatan sulfate457.4F5, PLAT, SERPINC1, SERPIND1, F10, THBD
44hirudin457.2F2, FGB, FGA, F5, PLAT, F10
45aspirin45 51 30 2610.1SERPINC1, THBD, F2, FGA, F5, PLAT
46warfarin45 51 26 1310.0FGA, F5, ALB, PLAT, SERPINC1, F10
47adp45 30 268.9THBD, PLAT, SERPINC1, FGA, F10, F2
48serine456.7FGA, PLAT, SERPINC1, SERPIND1, THBD, F2
49heparin45 30 26 138.9THBD, SERPIND1, F10, F13A1, SERPINC1, PLAT
50fibrinogen455.6THBD, F13A1, F10, SERPIND1, FGB, FGA

GO Terms for genes affiliated with Dysfibrinogenemia

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Cellular components related to Dysfibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:00055779.7FGG, FGA, FGB
2platelet alpha granuleGO:00310919.7FGB, FGA, FGG
3external side of plasma membraneGO:00098979.6FGB, FGA, FGG
4cell cortexGO:00059389.3FGG, FGA, FGB
5cell surfaceGO:00099868.7THBD, PLAT, FGG, FGA, FGB
6platelet alpha granule lumenGO:00310938.4F13A1, ALB, F5, FGG, FGA, FGB
7blood microparticleGO:00725628.1F2, F13A1, SERPINC1, ALB, FGG, FGA
8plasma membraneGO:00058867.0F2, THBD, F10, SERPINC1, F5, FGG
9extracellular spaceGO:00056156.6F2, THBD, SERPIND1, SERPINC1, PLAT, ALB
10extracellular regionGO:00055765.8FGB, F2, F13A1, F10, SERPIND1, SERPINC1

Biological processes related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:00519189.9F2, THBD
2protein polymerizationGO:00512589.9FGG, FGA, FGB
3negative regulation of platelet activationGO:00105449.9F2, THBD
4response to calcium ionGO:00515929.9FGB, FGA, FGG
5regulation of proteolysisGO:00301629.6SERPIND1, SERPINC1
6extracellular matrix organizationGO:00301989.6FGB, FGA, FGG
7negative regulation of proteolysisGO:00458619.5F2, PLAT
8fibrinolysisGO:00427309.5F2, PLAT
9peptidyl-glutamic acid carboxylationGO:00171879.4F10, F2
10blood coagulation, intrinsic pathwayGO:00075979.3F2, F10
11response to cAMPGO:00515919.2PLAT, THBD
12proteolysisGO:00065088.6PLAT, F10, F2
13platelet degranulationGO:00025768.5F13A1, ALB, F5, FGG, FGA, FGB
14platelet activationGO:00301688.0F2, F13A1, ALB, F5, FGG, FGA
15blood coagulationGO:00075965.5FGB, F2, THBD, F13A1, F10, SERPIND1

Molecular functions related to Dysfibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:00510879.7FGB, ALB
2protein binding, bridgingGO:00306749.6FGB, FGA, FGG
3receptor bindingGO:00051029.1F2, FGG, FGA, FGB
4serine-type endopeptidase activityGO:00042528.1F5, PLAT, F10, F2
5protein bindingGO:00055155.9F2, THBD, F10, SERPINC1, PLAT, ALB

Products for genes affiliated with Dysfibrinogenemia

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Sources for Dysfibrinogenemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet