MCID: DYS026
MIFTS: 45

Dysfibrinogenemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Dysfibrinogenemia

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

Aliases & Descriptions for Dysfibrinogenemia:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 98881
ICD10 via Orphanet28 D68.2

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 dysfibrinogenemia, congenital and liver disease, 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 Integrin cell surface interactions. Affiliated tissues include liver, testes and bone, and related mouse phenotypes are liver/biliary system and embryogenesis.

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 149)
idRelated DiseaseScoreTop Affiliating Genes
1dysfibrinogenemia, congenital31.1FGA, FGB, FGG
2liver disease30.5ALB, F2, SERPINC1
3protein c deficiency30.0F2, F5, SERPINC1
4afibrinogenemia, congenital29.9F2, FGA, FGB, FGG
5calpainopathy10.2ALB, SERPINC1
6fibrocartilaginous embolism10.2FGA, FGB, FGG
7hypoganglionosis10.2FGA, FGB, FGG
8intracranial structure hemangioma10.2F5, SERPINC1
9nasopalpebral lipoma - coloboma - telecanthus10.2FGA, FGB, FGG
10contact blepharoconjunctivitis10.2ALB, F5
11panic disorder10.2F5, SERPINC1
12multiple myeloma10.2
13pulmonary hypertension10.2
14myeloma10.2
15chronic thromboembolic pulmonary hypertension10.2
16non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency10.2ALB, F2
17hypersensitivity reaction type iv disease10.2ALB, F13A1
18ureter tuberculosis10.1F5, THBD
19abnormal pupillary function10.1ALB, F2
20factor xii deficiency10.1F5, SERPINC1
21liver failure acute infantile10.1F2, F5
22cushing's syndrome10.1ALB, F2
23tall stature - scoliosis - macrodactyly of the great toes10.1F2, F5
24small intestine diverticulitis10.1ALB, F2
25myofascial pain syndrome10.1ALB, F2
26mediastinum rhabdomyosarcoma10.1F2, F5
27adult choroid plexus cancer10.1F13A1, F5
28axial osteomalacia10.1ALB, F2
29brain compression10.1F2, F5
30testicular brenner tumor10.1F2, F5
31factor xi deficiency, autosomal recessive10.1F2, F5
32relapsing polychondritis10.1F2, SERPINC1
33intrahepatic cholangiocarcinoma10.1F5, FGA, SERPINC1
34irritable bowel syndrome10.1F2, SERPINC1
35complement deficiency10.1ALB, F2
36acute lymphoblastic leukemia, childhood10.1ALB, F2
37bladder neck cancer10.1F13A1, F5
38cervical alveolar soft part sarcoma10.1F2, SERPINC1
39nephropathia epidemica10.1F2, SERPINC1
40klippel-feil syndrome10.1ALB, F2
41pyometritis10.1F2, F5
42abducens nerve neoplasm10.1F2, SERPINC1
43breast angiosarcoma10.1F2, SERPINC1
44skeletal muscle regeneration10.1F2, F5
45pulmonary fibrosis, familial10.1F13A1, F2
46moderately severe hemophilia a10.1F2, F5
47lambert-eaton myasthenic syndrome10.1F2, SERPINC1
48sex cord-gonadal stromal tumor10.1ALB, F5, SERPINC1
49neurofibroma of spinal cord10.1F2, F5
50conversion disorder10.1F2, SERPINC1

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
1Factor VIII265

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ex 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 Dysfibrinogenemia24

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

33
Liver, Testes, Bone, Kidney, Bone marrow

Animal Models for Dysfibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Dysfibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ALB, F5, FGA, SERPINC1, THBD
2MP:00053808.2F2, F5, FGA, FGG, SERPINC1, THBD
3MP:00053818.0ALB, F2, FGA, PLAT, THBD
4MP:00053887.8F13A1, F2, FGG, PLAT, THBD
5MP:00053897.1F13A1, F2, FGA, FGG, PLAT, SERPINC1
6MP:00053856.5F13A1, F2, F5, FGA, FGG, PLAT
7MP:00053976.4F13A1, F2, FGA, FGG, PLAT, SERPINC1
8MP:00107685.9ALB, F13A1, F2, F5, FGA, FGG
9MP:00053765.7ALB, F13A1, F2, F5, FGA, FGG

Publications for Dysfibrinogenemia

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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 149)
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
Fibrinogen LogroA+o. A new case of congenital dysfibrinogenemia. (6522973)
1984
43
Hereditary dysfibrinogenemia in a patient with thrombotic disease. (6191801)
1983
44
The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. (6839020)
1983
45
Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules. (6217586)
1982
46
A kinetic method for characterization of heterogenous fibrinogen and its application to fibrinogen Grand Rapids, a congenital dysfibrinogenemia. (6217579)
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 Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGA, FGB, FGG
29.6FGA, FGB, FGG
39.6FGA, 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
8.2ALB, F13A1, F5, FGA, FGB, FGG
10
Show member pathways
7.2F13A1, F2, F5, FGA, FGB, FGG
11
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
12
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
13
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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:000557710.3FGA, FGB, FGG
2external side of plasma membraneGO:000989710.1FGA, FGB, FGG
3cell cortexGO:000593810.0FGA, FGB, FGG
4platelet alpha granuleGO:00310919.9F5, FGA, FGB, FGG
5extracellular vesicleGO:19035619.9F5, FGA, FGB
6platelet alpha granule lumenGO:00310938.9ALB, F13A1, F5, FGA, FGB, FGG
7cell surfaceGO:00099868.2FGA, FGB, FGG, PLAT, THBD
8blood microparticleGO:00725628.1ALB, F13A1, F2, FGA, FGB, FGG
9extracellular exosomeGO:00700626.8ALB, F2, FGA, FGB, FGG, PLAT
10extracellular regionGO:00055765.9ALB, F13A1, F2, F5, FGA, FGB
11extracellular spaceGO:00056155.7ALB, F2, F5, FGA, FGB, FGG

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.5FGA, FGB
2blood coagulation, fibrin clot formationGO:007237810.2FGA, FGB, FGG
3positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.1FGA, FGB, FGG
5negative regulation of endothelial cell apoptotic processGO:200035210.1FGA, FGB, FGG
6platelet aggregationGO:007052710.1FGA, FGB, FGG
7positive regulation of protein secretionGO:005071410.1FGA, FGB, FGG
8positive regulation of exocytosisGO:004592110.1FGA, FGB, FGG
9positive regulation of heterotypic cell-cell adhesionGO:003411610.1FGA, FGB, FGG
10response to calcium ionGO:005159210.1FGA, FGB, FGG
11acute-phase responseGO:000695310.0F2, FGA
12positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.0FGA, FGB, FGG
13protein polymerizationGO:005125810.0FGA, FGB, FGG
14positive regulation of vasoconstrictionGO:00459079.9FGA, FGB, FGG
15positive regulation of ERK1 and ERK2 cascadeGO:00703749.9FGA, FGB, FGG
16cell-matrix adhesionGO:00071609.9FGA, FGB, FGG
17negative regulation of fibrinolysisGO:00519189.9F2, THBD
18negative regulation of platelet activationGO:00105449.8F2, THBD
19cellular protein complex assemblyGO:00436239.6FGA, FGB, FGG
20negative regulation of proteolysisGO:00458619.4F2, PLAT
21plasminogen activationGO:00316399.1FGA, FGB, FGG, PLAT
22fibrinolysisGO:00427308.7F2, FGA, FGB, FGG, PLAT
23platelet degranulationGO:00025768.6ALB, F13A1, F5, FGA, FGB, FGG
24platelet activationGO:00301687.3ALB, F13A1, F2, F5, FGA, FGB
25blood coagulationGO:00075965.4ALB, F13A1, F2, F5, FGA, FGB

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:00508399.9FGA, FGB, FGG
2protein binding, bridgingGO:00306749.3FGA, FGB, FGG
3receptor bindingGO:00051028.1F2, FGA, FGB, FGG, PLAT

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