MCID: DYS026
MIFTS: 36

Dysfibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

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Aliases & Descriptions for Dysfibrinogenemia:

Name: Dysfibrinogenemia 46 25 48 66
Dysfibrinogenemia, Congenital 66
Congenital Dysfibrinogenemia 46
 
Dysfibrinogenemia, Familial 46
Familial Dysfibrinogenemia 46

Classifications:



Summaries for Dysfibrinogenemia

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NIH Rare Diseases:46 Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. dysfibrinogenemias may be inherited (congenital) or acquired. congenital dysfibrinogenemia is rare. about 40% of people with this form have no symptoms. about 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders. congenital dysfibrinogenemias may be caused by mutations in the fga, fgb or fgg genes. inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive. whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific mutation(s). most people with dysfibrinogenemia have no symptoms and don't need treatment. for the remainder, treatment is individualized and depends on the symptoms and severity in each person. acquired dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis. last updated: 7/14/2016

MalaCards based summary: Dysfibrinogenemia, also known as dysfibrinogenemia, congenital, is related to dysfibrinogenemia, congenital and liver disease. An important gene associated with Dysfibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include liver, testes and kidney.

Wikipedia:69 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Related Diseases for Dysfibrinogenemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1FACTOR VIII282

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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Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia25

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

34
Liver, Testes, Kidney, Bone, Bone marrow

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 153)
idTitleAuthorsYear
1
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. (27408401)
2016
2
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. (26460252)
2015
3
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. (25816717)
2015
4
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. (25982359)
2015
5
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
6
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
7
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
8
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24513323)
2013
9
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. (23518794)
2013
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
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. (19420351)
2009
14
Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution. (19949684)
2009
15
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
16
Hematopoietic stem cell transplantation for Hodgkin's disease in a patient with dysfibrinogenemia and thrombosis. (17131175)
2007
17
Analysis of hypofibrinogenemias found on routine coagulation screening tests and identification of heterozygous dysfibrinogenemia or fibrinogen deficiency]. (18154029)
2007
18
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
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
Sneddon syndrome revealing dysfibrinogenemia. (12839611)
2003
22
Fibrinogen variation: a heterozygote dysfibrinogenemia with Arg-->His substitution in position 16 of the Aalpha chain]. (12193970)
2002
23
Fibrinogen kaiserslautern III: a new case of congenital dysfibrinogenemia with aalpha 16 arg-->cys substitution. (11408744)
2001
24
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
25
Dysfibrinogenemia and placental abruption. (10808030)
2000
26
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
27
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. (7740487)
1995
28
Fibrinogenemia Tampere--a dysfibrinogenemia with defective gelation and thromboembolic disease. (7631313)
1995
29
Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His). (1521828)
1992
30
Dysfibrinogenemia and thrombosis. (1818298)
1991
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
A gamma methionine-310 to threonine substitution and consequent N- glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi. (2496144)
1989
34
Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit. (3175983)
1988
35
Two cases of dysfibrinogenemia characterized by abnormal FPB release: fibrinogen Madrid I & II. (3109061)
1987
36
Dysfibrinogenemia in obstructive liver disease. (3681583)
1987
37
Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution. (3618591)
1987
38
Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution. (3726812)
1986
39
Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization. (4002201)
1985
40
Fibrinogen LogroA+o. A new case of congenital dysfibrinogenemia. (6522973)
1984
41
Hereditary dysfibrinogenemia--the first 25 years. (6424378)
1984
42
The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. (6839020)
1983
43
Fibrinogen and dysfibrinogenemia. (7447388)
1980
44
Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family. (312982)
1979
45
Abnormal sialic acid content of the dysfibrinogenemia associated with liver disease. (621288)
1978
46
Proceedings: A new case of dysfibrinogenemia, fibrinogen Marburg. (1198456)
1975
47
Fibrinogen Troyes--fibrinogen Metz. Two new cases of congenital dysfibrinogenemia. (4662617)
1972
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
Congenital dysfibrinogenemia: fibrinogen Detroit. (4974308)
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 Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9FGA, FGB, FGG
2
Show member pathways
8.9FGA, FGB, FGG
3
Show member pathways
8.9FGA, FGB, FGG
48.9FGA, FGB, FGG
58.9FGA, FGB, FGG
6
Show member pathways
8.9FGA, FGB, FGG
78.9FGA, FGB, FGG
88.9FGA, FGB, FGG
9
Show member pathways
8.4F5, FGA, FGB, FGG
10
Show member pathways
8.4F5, FGA, FGB, FGG
11
Show member pathways
8.4F5, FGA, FGB, FGG
12
Show member pathways
7.5ALB, F5, FGA, FGB, FGG

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
1fibrinogen complexGO:00055779.6FGA, FGB, FGG
2external side of plasma membraneGO:00098979.2FGA, FGB, FGG
3extracellular vesicleGO:19035619.2F5, FGA, FGB
4platelet alpha granuleGO:00310919.1F5, FGA, FGB, FGG
5cell surfaceGO:00099868.9FGA, FGB, FGG
6cell cortexGO:00059388.9FGA, FGB, FGG
7blood microparticleGO:00725628.2ALB, FGA, FGB, FGG
8platelet alpha granule lumenGO:00310938.2ALB, F5, FGA, FGB, FGG
9extracellular regionGO:00055767.4ALB, F5, FGA, FGB, FGG
10extracellular spaceGO:00056157.2ALB, F5, FGA, FGB, FGG

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1adaptive immune responseGO:00022509.7FGA, FGB
2induction of bacterial agglutinationGO:00431529.7FGA, FGB
3blood coagulation, fibrin clot formationGO:00723789.6FGA, FGB, FGG
4positive regulation of peptide hormone secretionGO:00902779.5FGA, FGB, FGG
5negative regulation of endothelial cell apoptotic processGO:20003529.5FGA, FGB, FGG
6positive regulation of heterotypic cell-cell adhesionGO:00341169.4FGA, FGB, FGG
7protein polymerizationGO:00512589.4FGA, FGB, FGG
8positive regulation of exocytosisGO:00459219.4FGA, FGB, FGG
9fibrinolysisGO:00427309.4FGA, FGB, FGG
10platelet aggregationGO:00705279.3FGA, FGB, FGG
11response to calcium ionGO:00515929.3FGA, FGB, FGG
12negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.2FGA, FGB, FGG
13positive regulation of vasoconstrictionGO:00459079.2FGA, FGB, FGG
14cell-matrix adhesionGO:00071609.2FGA, FGB, FGG
15plasminogen activationGO:00316399.2FGA, FGB, FGG
16cellular protein complex assemblyGO:00436239.1FGA, FGB, FGG
17extracellular matrix organizationGO:00301989.1FGA, FGB, FGG
18positive regulation of protein secretionGO:00507149.0FGA, FGB, FGG
19positive regulation of ERK1 and ERK2 cascadeGO:00703748.9FGA, FGB, FGG
20positive regulation of substrate adhesion-dependent cell spreadingGO:19000268.6FGA, FGB, FGG
21blood coagulationGO:00075968.3F5, FGA, FGB, FGG
22platelet degranulationGO:00025767.9ALB, F5, FGA, FGB, FGG

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.5ALB, F5
2protein binding, bridgingGO:00306749.2FGA, FGB, FGG
3structural molecule activityGO:00051989.2FGA, FGB, FGG
4receptor bindingGO:00051028.9FGA, FGB, FGG
5cell adhesion molecule bindingGO:00508398.8FGA, FGB, FGG
6chaperone bindingGO:00510878.7ALB, FGB

Sources for Dysfibrinogenemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet