MCID: DYS026
MIFTS: 63

Dysfibrinogenemia malady

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

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NIH Rare Diseases:42 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 familial hypodysfibrinogenemia, is related to afibrinogenemia and sneddon syndrome, 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 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...

Description from OMIM:46 616004

Aliases & Classifications for Dysfibrinogenemia

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Sources:
42NIH Rare Diseases, 22GTR, 44Novoseek, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Dysfibrinogenemia, Aliases & Descriptions:

Name: Dysfibrinogenemia 42 22 44 62
Familial Hypodysfibrinogenemia 48
Dysfibrinogenemia, Congenital 46
Congenital Dysfibrinogenemia 42
 
Hereditary Dysfibrinogenemia 62
Dysfibrinogenemia, Familial 42
Familial Dysfibrinogenemia 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial dysfibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

ICD10 via Orphanet26 D68.2
OMIM46 616004

Related Diseases for Dysfibrinogenemia

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia30.8FGB, FGA
2sneddon syndrome30.7SERPINC1
3placental abruption30.4F5, SERPINC1
4vascular disease30.3SERPINC1, SERPIND1, THBD
5von willebrand's disease30.3F2, F5
6hypertension29.8F2, PLAT, ALB, F5
7protein c deficiency29.7F2, THBD, SERPIND1, SERPINC1, F5
8factor vii deficiency29.6F2, F10, SERPINC1, F5
9liver cirrhosis29.5F2, F10, SERPINC1, ALB
10thromboembolism29.0FGA, F5, PLAT, SERPINC1, SERPIND1, F10
11thrombophilia28.3F2, THBD, F13A1, F10, FGA, F5
12mediterranean spotted fever10.5THBD
13hypersplenism10.5F2
14dengue shock syndrome10.5THBD
15purpura10.4SERPINC1
16branch retinal artery occlusion10.4F5
17central retinal artery occlusion10.4PLAT
18homocysteinemia10.4F5
19factor viii deficiency10.4F5
20patent foramen ovale10.4F5
21liver disease10.4
22endophthalmitis10.4PLAT
23eclampsia10.3SERPINC1, THBD
24primary pulmonary hypertension10.3THBD, FGA
25bernard-soulier syndrome10.3F2, FGA
26retinal vein occlusion10.3SERPINC1, F5
27factor xii deficiency10.3F5, SERPINC1
28post-thrombotic syndrome10.3SERPINC1, F5
29legg-calve-perthes disease10.3F5, SERPINC1
30factor xi deficiency10.3F5, F2
31sagittal sinus thrombosis10.3SERPINC1, F5
32hepatic vein thrombosis10.3SERPINC1, F5
33miller syndrome10.3PLAT, THBD
34stroke, ischemic10.2F5, F2
35coronary thrombosis10.2SERPINC1, PLAT
36esophageal varix10.2F2, ALB
37severe pre-eclampsia10.2SERPINC1, F5
38hemorrhagic disease10.2SERPIND1, PLAT
39peripheral vascular disease10.2THBD, PLAT
40factor v deficiency10.2F2, F5
41hellp syndrome10.2SERPINC1, F5
42acute liver failure10.2F2, ALB
43hepatorenal syndrome10.2F2, ALB
44varicose veins10.2F2, ALB
45intermediate coronary syndrome10.2SERPINC1, PLAT
46central retinal vein occlusion10.2F5, PLAT
47hemorrhage, intracerebral10.2F13A1, PLAT
48ovarian hyperstimulation syndrome10.2ALB, F5
49alcoholic hepatitis10.2F2, ALB
50hepatic encephalopathy10.2F2, ALB

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Symptoms for Dysfibrinogenemia

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Clinical features from OMIM:

616004

Symptoms:

48
  • 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 Dysfibrinogenemia22

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

32
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 139)
idTitleAuthorsYear
1
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
2
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
3
A dysfibrinogenemia leading to resistance to bovine thrombin. (25103594)
2014
4
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
5
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
6
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
7
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
8
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
2012
9
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
10
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
11
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
12
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
13
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
14
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
15
Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. (17492257)
2007
16
Hematopoietic stem cell transplantation for Hodgkin's disease in a patient with dysfibrinogenemia and thrombosis. (17131175)
2007
17
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
18
Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen]. (15793786)
2005
19
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
20
Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. (12956852)
2003
21
Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti. (11672582)
2001
22
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
23
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
24
Fibrinogen AlA"s: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a". (11071644)
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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Expression patterns in normal tissues for genes affiliated with Dysfibrinogenemia

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 pathway37
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 Pathway37
Complement and Coagulation Cascades37
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
1sucralfate44 1110.5FGB, ALB, FGG, FGA
2inogatran449.3F5, SERPINC1, F2
3heparin sodium449.3THBD, PLAT, F2
4dextran 70449.0PLAT, F2, ALB
5desirudin448.9FGA, PLAT, F10
6hirugen448.9FGA, F5, SERPINC1, THBD, F2
7cacl2448.8THBD, F10, F5, FGA
8fibrinopeptide a448.8PLAT, F2, THBD, SERPINC1, FGA
9efegatran448.8F10, PLAT, SERPINC1
10ristocetin448.7SERPINC1, PLAT, F5, F2
11batroxobin448.7FGB, FGA, PLAT, F2, F5
12levonorgestrel44 61 28 1111.7SERPINC1, PLAT, F2, F5
13benzamidine44 119.7F5, SERPINC1, F10, THBD
14ecarin448.7F5, SERPINC1, F10, F2
15danaparoid448.6F2, F10, F5, SERPINC1
16gamma-carboxyglutamic acid448.6THBD, F10, F5, F2
17pge1448.6PLAT, F5, THBD, F2, FGA
18tirofiban44 119.5F2, F10, SERPINC1, PLAT
19desmopressin44 61 28 1111.5THBD, PLAT, F2, F5, SERPINC1
20abciximab44 119.4F10, F2, SERPINC1, PLAT
21coumarin44 2 50 2411.4F2, FGA, SERPINC1, F10, F5
22ximelagatran44 119.3F5, F10, SERPINC1, THBD, F2
23prostacyclin448.3PLAT, F5, THBD, SERPINC1, FGA
24ppack448.3F2, F10, SERPINC1, FGA, PLAT
25cardiolipin44 119.2F5, THBD, F10, F2
26clopidogrel44 50 24 1111.2F2, SERPINC1, PLAT, F10
27spectrozyme448.1PLAT, F5, SERPINC1, F10, F2
28protamine sulfate448.0F5, PLAT, SERPINC1, F10, F2
29heparinoids448.0F5, F10, F13A1, THBD, F2, SERPINC1
30homocysteine44 249.0F5, THBD, ALB, PLAT, SERPINC1, F2
31polyethylene glycol447.8SERPINC1, F5, ALB, THBD, F2, F10
32protamine447.8PLAT, F5, SERPINC1, FGA, F10, F2
33simvastatin44 50 61 28 24 1112.8THBD, F5, F10, PLAT, F2
34citrate447.8F5, SERPINC1, F10, THBD, ALB, F2
35fondaparinux447.7F5, PLAT, SERPINC1, F10, THBD, F2
36creatinine447.7FGA, F2, SERPINC1, PLAT, ALB, F5
37kininogen447.7THBD, F2, F13A1, SERPINC1, F5, ALB
38ascorbic acid44 248.5ALB, SERPINC1, PLAT, F5, F10, THBD
39ancrod447.5PLAT, SERPINC1, F10, THBD, F2, F5
40bivalirudin44 118.5FGA, F5, PLAT, SERPINC1, F10, THBD
41argatroban44 118.5FGA, F5, PLAT, SERPINC1, F10, THBD
42aprotinin44 118.4SERPINC1, PLAT, F10, F5, FGA, THBD
43dermatan sulfate447.4F5, PLAT, SERPINC1, SERPIND1, F10, THBD
44hirudin447.2F2, FGB, FGA, F5, PLAT, F10
45aspirin44 50 28 2410.1SERPINC1, THBD, F2, FGA, F5, PLAT
46warfarin44 50 24 1110.0FGA, F5, ALB, PLAT, SERPINC1, F10
47adp44 28 248.9THBD, PLAT, SERPINC1, FGA, F10, F2
48serine446.7FGA, PLAT, SERPINC1, SERPIND1, THBD, F2
49heparin44 28 24 118.9THBD, SERPIND1, F10, F13A1, SERPINC1, PLAT
50fibrinogen445.6THBD, 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:0055779.7FGG, FGA, FGB
2platelet alpha granuleGO:0310919.7FGB, FGA, FGG
3external side of plasma membraneGO:0098979.6FGB, FGA, FGG
4cell cortexGO:0059389.3FGG, FGA, FGB
5cell surfaceGO:0099868.7THBD, PLAT, FGG, FGA, FGB
6platelet alpha granule lumenGO:0310938.4F13A1, ALB, F5, FGG, FGA, FGB
7blood microparticleGO:0725628.1F2, F13A1, SERPINC1, ALB, FGG, FGA
8plasma membraneGO:0058867.0F2, THBD, F10, SERPINC1, F5, FGG
9extracellular spaceGO:0056156.6F2, THBD, SERPIND1, SERPINC1, PLAT, ALB
10extracellular regionGO:0055765.8FGB, 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:0519189.9F2, THBD
2protein polymerizationGO:0512589.9FGG, FGA, FGB
3negative regulation of platelet activationGO:0105449.9F2, THBD
4response to calcium ionGO:0515929.9FGB, FGA, FGG
5regulation of proteolysisGO:0301629.6SERPIND1, SERPINC1
6extracellular matrix organizationGO:0301989.6FGB, FGA, FGG
7negative regulation of proteolysisGO:0458619.5F2, PLAT
8fibrinolysisGO:0427309.5F2, PLAT
9peptidyl-glutamic acid carboxylationGO:0171879.4F10, F2
10blood coagulation, intrinsic pathwayGO:0075979.3F2, F10
11response to cAMPGO:0515919.2PLAT, THBD
12proteolysisGO:0065088.6PLAT, F10, F2
13platelet degranulationGO:0025768.5F13A1, ALB, F5, FGG, FGA, FGB
14platelet activationGO:0301688.0F2, F13A1, ALB, F5, FGG, FGA
15blood coagulationGO:0075965.5FGB, F2, THBD, F13A1, F10, SERPIND1

Molecular functions related to Dysfibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.7FGB, ALB
2protein binding, bridgingGO:0306749.6FGB, FGA, FGG
3receptor bindingGO:0051029.1F2, FGG, FGA, FGB
4serine-type endopeptidase activityGO:0042528.1F5, PLAT, F10, F2
5protein bindingGO:0055155.9F2, THBD, F10, SERPINC1, PLAT, ALB

Products for genes affiliated with Dysfibrinogenemia

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Sources for Dysfibrinogenemia

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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