MCID: DYS026
MIFTS: 52

Dysfibrinogenemia malady

Genetic diseases, Rare diseases categories

Summaries for Dysfibrinogenemia

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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: Dysfibrinogenemia, also known as congenital dysfibrinogenemia, is related to sneddon syndrome and afibrinogenemia. 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:66 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Aliases & Classifications for Dysfibrinogenemia

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44NIH Rare Diseases, 23GTR, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

dysfibrinogenemia 44 23 46 63
congenital dysfibrinogenemia 44
hereditary dysfibrinogenemia 63
dysfibrinogenemia, familial 44


Related Diseases for Dysfibrinogenemia

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18GeneCards, 19GeneDecks
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Diseases in the Dysfibrinogenemia family:

Dysfibrinogenemia, Beta Type Dysfibrinogenemia, Gamma Type

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1sneddon syndrome30.1SERPINC1
2afibrinogenemia30.1FGB, FGA
3hypertension30.1F2, PLAT, ALB, F5
4thromboembolism30.1F2, THBD, SERPIND1, SERPINC1, PLAT, F5
5placental abruption30.0F5, SERPINC1
6vascular disease30.0SERPIND1, THBD, SERPINC1
7von willebrand's disease30.0F5, F2
8protein c deficiency29.9SERPIND1, F5, THBD, F2, SERPINC1
9factor vii deficiency29.8F10, F2, SERPINC1, F5
10liver cirrhosis29.8F10, ALB, F2, SERPINC1
11thrombophilia29.5SERPIND1, SERPINC1, PLAT, F5, FGA, F2
12liver disease10.3
13mediterranean spotted fever10.1THBD
14hypersplenism10.1F2
15multiple myeloma10.1
16myeloma10.1
17dysfibrinogenemia, alpha type, causing bleeding diathesis10.1
18dysfibrinogenemia, alpha type, causing recurrent thrombosis10.1
19dysfibrinogenemia, beta type10.1
20dysfibrinogenemia, gamma type10.1
21chronic thromboembolic pulmonary hypertension10.1
22dengue shock syndrome10.1THBD
23purpura10.1SERPINC1
24branch retinal artery occlusion10.1F5
25central retinal artery occlusion10.1PLAT
26homocysteinemia10.1F5
27factor viii deficiency10.1F5
28patent foramen ovale10.1F5
29endophthalmitis10.1PLAT
30primary pulmonary hypertension10.1THBD, FGA
31eclampsia10.1THBD, SERPINC1
32bernard-soulier syndrome10.1FGA, F2
33purpura fulminans10.1SERPINC1, F5
34retinal vein occlusion10.1F5, SERPINC1
35factor xii deficiency10.1F5, SERPINC1
36post-thrombotic syndrome10.1F5, SERPINC1
37legg-calve-perthes disease10.1SERPINC1, F5
38factor xi deficiency10.1F5, F2
39sagittal sinus thrombosis10.1SERPINC1, F5
40hepatic vein thrombosis10.1F5, SERPINC1
41miller syndrome10.1PLAT, THBD
42stroke, ischemic10.1F5, F2
43coronary thrombosis10.1SERPINC1, PLAT
44severe pre-eclampsia10.1F5, SERPINC1
45esophageal varix10.1ALB, F2
46hemorrhagic disease10.1SERPIND1, PLAT
47peripheral vascular disease10.1THBD, PLAT
48factor v deficiency10.1F5, F2
49hellp syndrome10.1SERPINC1, F5
50acute liver failure10.0ALB, F2

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Symptoms for Dysfibrinogenemia

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Drugs & Therapeutics for Dysfibrinogenemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Dysfibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Dysfibrinogenemia

Search NIH Clinical Center for Dysfibrinogenemia

Search CenterWatch for Dysfibrinogenemia

Genetic Tests for Dysfibrinogenemia

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23GTR
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Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia23

Anatomical Context for Dysfibrinogenemia

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34MalaCards
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MalaCards organs/tissues related to Dysfibrinogenemia:

34
Liver, Testes, Bone marrow, Bone, Kidney

Animal Models for Dysfibrinogenemia or affiliated genes

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38MGI
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Publications for Dysfibrinogenemia

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53PubMed
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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 135)
idTitleAuthorsYear
1
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
2
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
3
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
4
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
5
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
2012
6
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
7
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
8
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
9
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
10
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
11
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
12
Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. (17492257)
2007
13
Hematopoietic stem cell transplantation for Hodgkin's disease in a patient with dysfibrinogenemia and thrombosis. (17131175)
2007
14
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
15
Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen]. (15793786)
2005
16
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
17
Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. (12956852)
2003
18
Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti. (11672582)
2001
19
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
20
Fibrinogen kaiserslautern III: a new case of congenital dysfibrinogenemia with aalpha 16 arg-->cys substitution. (11408744)
2001
21
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
22
Fibrinogen AlA"s: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a". (11071644)
2000
23
Erythrocyte hyperaggregation and thrombogenic dysfibrinogenemia. (9741663)
1998
24
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
25
Fibrinogen Guarenas I: partial characterization of a new dysfibrinogenemia with an altered rate of fibrinopeptide release and an impaired polymerization. (7482436)
1995
26
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. (7740487)
1995
27
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
28
Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His). (1521828)
1992
29
Dysfibrinogenemia associated with thrombosis and third-trimester fetal loss. A case report. (2061889)
1991
30
Fibrinogen Milano. VI: A heterozygous dysfibrinogenemia (A alpha 16 Arg----His) with bleeding tendency. (2379562)
1990
31
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
32
Fibrinogen Sevilla, a congenital dysfibrinogenemia characterized by an abnormal monomer aggregation and a defective plasmin lysis. (2713997)
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 56Reactome, 13EMD Millipore, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 54QIAGEN, 31KEGG, 55R&D Systems
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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 signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
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 pathway39
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 Pathway39
Complement and Coagulation Cascades39
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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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 52PharmGKB, 25HMDB
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Compounds related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 165)
idCompoundScoreTop Affiliating Genes
1sucralfate46 1210.5FGB, ALB, FGG, FGA
2inogatran469.3F5, SERPINC1, F2
3heparin sodium469.3THBD, PLAT, F2
4dextran 70469.0PLAT, F2, ALB
5desirudin468.9FGA, PLAT, F10
6hirugen468.9FGA, F5, SERPINC1, THBD, F2
7cacl2468.8THBD, F10, F5, FGA
8fibrinopeptide a468.8PLAT, F2, THBD, SERPINC1, FGA
9efegatran468.8F10, PLAT, SERPINC1
10ristocetin468.7SERPINC1, PLAT, F5, F2
11batroxobin468.7FGB, FGA, PLAT, F2, F5
12levonorgestrel46 62 30 1211.7SERPINC1, PLAT, F2, F5
13benzamidine46 129.7F5, SERPINC1, F10, THBD
14ecarin468.7F5, SERPINC1, F10, F2
15danaparoid468.6F2, F10, F5, SERPINC1
16gamma-carboxyglutamic acid468.6THBD, F10, F5, F2
17pge1468.6PLAT, F5, THBD, F2, FGA
18tirofiban46 129.5F2, F10, SERPINC1, PLAT
19desmopressin46 62 30 1211.5THBD, PLAT, F2, F5, SERPINC1
20abciximab46 129.4F10, F2, SERPINC1, PLAT
21coumarin46 3 52 2511.4F2, FGA, SERPINC1, F10, F5
22ximelagatran46 129.3F5, F10, SERPINC1, THBD, F2
23prostacyclin468.3PLAT, F5, THBD, SERPINC1, FGA
24ppack468.3F2, F10, SERPINC1, FGA, PLAT
25cardiolipin46 129.2F5, THBD, F10, F2
26clopidogrel46 52 25 1211.2F2, SERPINC1, PLAT, F10
27spectrozyme468.1PLAT, F5, SERPINC1, F10, F2
28protamine sulfate468.0F5, PLAT, SERPINC1, F10, F2
29heparinoids468.0F5, F10, F13A1, THBD, F2, SERPINC1
30homocysteine46 259.0F5, THBD, ALB, PLAT, SERPINC1, F2
31polyethylene glycol467.8SERPINC1, F5, ALB, THBD, F2, F10
32protamine467.8PLAT, F5, SERPINC1, FGA, F10, F2
33simvastatin46 52 62 30 25 1212.8THBD, F5, F10, PLAT, F2
34citrate467.8F5, SERPINC1, F10, THBD, ALB, F2
35fondaparinux467.7F5, PLAT, SERPINC1, F10, THBD, F2
36creatinine467.7FGA, F2, SERPINC1, PLAT, ALB, F5
37kininogen467.7THBD, F2, F13A1, SERPINC1, F5, ALB
38ascorbic acid46 258.5ALB, SERPINC1, PLAT, F5, F10, THBD
39ancrod467.5PLAT, SERPINC1, F10, THBD, F2, F5
40bivalirudin46 128.5FGA, F5, PLAT, SERPINC1, F10, THBD
41argatroban46 128.5FGA, F5, PLAT, SERPINC1, F10, THBD
42aprotinin46 128.4SERPINC1, PLAT, F10, F5, FGA, THBD
43dermatan sulfate467.4F5, PLAT, SERPINC1, SERPIND1, F10, THBD
44hirudin467.2F2, FGB, FGA, F5, PLAT, F10
45aspirin46 52 30 2510.1SERPINC1, THBD, F2, FGA, F5, PLAT
46warfarin46 52 25 1210.0FGA, F5, ALB, PLAT, SERPINC1, F10
47adp46 30 258.9THBD, PLAT, SERPINC1, FGA, F10, F2
48serine466.7FGA, PLAT, SERPINC1, SERPIND1, THBD, F2
49heparin46 30 25 128.9THBD, SERPIND1, F10, F13A1, SERPINC1, PLAT
50fibrinogen465.6THBD, F13A1, F10, SERPIND1, FGB, FGA

GO Terms for genes affiliated with Dysfibrinogenemia

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17Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysfibrinogenemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet