MCID: DYS026
MIFTS: 41

Dysfibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

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Aliases & Descriptions for Dysfibrinogenemia:

Name: Dysfibrinogenemia 47 26 49 67
Dysfibrinogenemia, Congenital 67
Congenital Dysfibrinogenemia 47
 
Dysfibrinogenemia, Familial 47
Familial Dysfibrinogenemia 47

Classifications:



Summaries for Dysfibrinogenemia

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Wikipedia:70 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

MalaCards based summary: Dysfibrinogenemia, also known as dysfibrinogenemia, congenital, is related to thrombophilia and dysfibrinogenemia, congenital. An important gene associated with Dysfibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways are MAP2K and MAPK activation and Platelet activation. Affiliated tissues include liver, testes and kidney, and related mouse phenotypes are liver/biliary system and embryo.

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 153)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia29.3F2, F5, SERPINC1
2dysfibrinogenemia, congenital12.3
3afibrinogenemia, congenital10.8
4cartilage disease10.4ALB, SERPINC1
5hepatic fibrosis renal cysts mental retardation10.4F5, SERPINC1
6amyloidosis, familial visceral10.4FGA, FGB, FGG
7agammaglobulinemia x-linked type 210.4FGA, FGB, FGG
8hereditary antithrombin deficiency type i10.3ALB, F2
9angioedema, hereditary, type iii10.3F5, SERPINC1
10oral cavity carcinoma in situ10.3ALB, F2
11duodenal disease10.3ALB, F2
12acute kidney tubular necrosis10.3ALB, F2
13acute zonal occult outer retinopathy10.3F2, F5
14unicentric castleman disease10.3F2, F5
15parathyroid gland disease10.3ALB, F2
16classic congenital lipoid adrenal hyperplasia due to star deficency10.3F2, F5
17alveolar periostitis10.3ALB, F2
18bartholin's gland adenoma10.3F2, F5
19childhood central nervous system germinoma10.2F5, THBD
20splenic infarction10.2ALB, F2
21cleft lip10.2F13A1, F5
22degenerative myopia10.2ALB, F2
23tympanosclerosis10.2F2, F5
24homocystinuria due to defect in methylation cbl g10.2F2, F5
25pancreatic solid pseudopapillary carcinoma10.2ALB, F2
26primary pigmented nodular adrenocortical disease10.2F2, F5
27facioscapulohumeral muscular dystrophy 110.2F2, F5
28ariboflavinosis10.2F2, SERPINC1
29stickler sydrome, type i, nonsyndromic ocular10.2SERPINC1, THBD
30west nile fever10.2F2, F5
31myiasis10.2F2, SERPINC1
32bronchial disease10.2ALB, F2
33cavernous hemangioma of face10.2F2, SERPINC1
34pericholangitis10.2ALB, F2
35ovarian gonadoblastoma10.2F2, SERPINC1
36hypertensive heart disease10.2F2, SERPINC1
37spleen cancer10.2F2, SERPINC1
38hepatocellular adenoma10.2F2, F5
39dmd-related dilated cardiomyopathy10.2F2, SERPINC1
40pyeloureteritis cystica10.2ALB, F2
41lateral cystocele10.2F2, SERPINC1
42posterolateral myocardial infarction10.2F2, SERPINC1
43idiopathic central precocious puberty10.1F2, F5
44rasa1-related disorders10.1F13A1, F2
45acute liver failure10.1ALB, F2
46anterior cerebral artery infarction10.1FGB, PLAT
47histoplasmosis10.1F2, SERPINC1
48lujo hemorrhagic fever10.1F2, SERPINC1
49fibrous histiocytoma10.1ALB, F2
50infantile-onset ascending hereditary spastic paralysis10.1F2, F5

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
1Fibrinolytic Agents2317
2Factor VIII304
3Anticoagulants2516

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fibrinogen Early In Severe Trauma studYRecruitingNCT02745041Phase 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 Dysfibrinogenemia26

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

35
Liver, Testes, Kidney, Bone, Bone marrow

Animal Models for Dysfibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Dysfibrinogenemia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2ALB, F5, FGA, SERPINC1, THBD
2MP:00053808.8F2, F5, FGA, FGG, SERPINC1, THBD
3MP:00053897.8F13A1, F2, FGA, FGG, PLAT, SERPINC1
4MP:00053887.8F13A1, F2, FGG, PLAT, THBD
5MP:00053977.5F13A1, F2, FGA, FGG, PLAT, SERPINC1
6MP:00053857.2F13A1, F2, F5, FGA, FGG, PLAT
7MP:00053766.6ALB, F13A1, F2, F5, FGA, FGG
8MP:00107686.6ALB, F13A1, F2, F5, FGA, FGG

Publications for Dysfibrinogenemia

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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 156)
idTitleAuthorsYear
1
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. (27408401)
2016
2
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. (27933517)
2016
3
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. (26460252)
2015
4
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. (25816717)
2015
5
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. (25982359)
2015
6
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
7
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
8
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
9
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24513323)
2013
10
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. (23518794)
2013
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
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. (19420351)
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:

idSuper pathwaysScoreTop Affiliating Genes
19.6FGA, FGB, FGG
29.6FGA, FGB, FGG
3
Show member pathways
9.6FGA, 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
7.2F13A1, F2, F5, FGA, FGB, FGG
9
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
10
Show member pathways
6.0F13A1, F2, 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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:000557710.3FGA, FGB, FGG
2cell cortexGO:000593810.2FGA, FGB, FGG
3extracellular vesicleGO:190356110.0F5, FGA, FGB
4platelet alpha granuleGO:003109110.0F5, FGA, FGB, FGG
5external side of plasma membraneGO:00098979.9FGA, FGB, FGG
6platelet alpha granule lumenGO:00310938.9ALB, F13A1, F5, FGA, FGB, FGG
7cell surfaceGO:00099868.4FGA, FGB, FGG, PLAT, THBD
8blood microparticleGO:00725627.6ALB, F13A1, F2, FGA, FGB, FGG
9extracellular exosomeGO:00700626.8ALB, F2, FGA, FGB, FGG, PLAT
10extracellular regionGO:00055766.2ALB, F13A1, F2, F5, FGA, FGB
11extracellular spaceGO:00056156.0ALB, F2, F5, FGA, FGB, FGG

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, fibrin clot formationGO:007237810.3FGA, FGB, FGG
2positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
3induction of bacterial agglutinationGO:004315210.2FGA, FGB
4negative regulation of endothelial cell apoptotic processGO:200035210.2FGA, FGB, FGG
5positive regulation of heterotypic cell-cell adhesionGO:003411610.1FGA, FGB, FGG
6protein polymerizationGO:005125810.1FGA, FGB, FGG
7positive regulation of exocytosisGO:004592110.1FGA, FGB, FGG
8platelet aggregationGO:007052710.0FGA, FGB, FGG
9response to calcium ionGO:005159210.0FGA, FGB, FGG
10positive regulation of vasoconstrictionGO:00459079.9FGA, FGB, FGG
11negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9FGA, FGB, FGG
12cell-matrix adhesionGO:00071609.9FGA, FGB, FGG
13negative regulation of platelet activationGO:00105449.9F2, THBD
14positive regulation of protein secretionGO:00507149.9FGA, FGB, FGG
15negative regulation of fibrinolysisGO:00519189.8F2, THBD
16positive regulation of substrate adhesion-dependent cell spreadingGO:19000269.6FGA, FGB, FGG
17cellular protein complex assemblyGO:00436239.6FGA, FGB, FGG
18positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGA, FGB, FGG
19negative regulation of proteolysisGO:00458619.3F2, PLAT
20extracellular matrix organizationGO:00301989.3FGA, FGB, FGG
21plasminogen activationGO:00316399.1FGA, FGB, FGG, PLAT
22platelet degranulationGO:00025768.7ALB, F13A1, F5, FGA, FGB, FGG
23fibrinolysisGO:00427308.6F2, FGA, FGB, FGG, PLAT
24blood coagulationGO:00075965.9F13A1, F2, F5, FGA, FGB, FGG

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.0FGA, FGB, FGG
2structural molecule activityGO:00051989.8FGA, FGB, FGG
3protein binding, bridgingGO:00306749.8FGA, FGB, FGG
4serine-type endopeptidase activityGO:00042528.4F2, F5, PLAT
5receptor bindingGO:00051028.1F2, FGA, FGB, FGG, PLAT

Sources for Dysfibrinogenemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet