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 48 27 50 68
Dysfibrinogenemia, Congenital 68
Congenital Dysfibrinogenemia 48
 
Dysfibrinogenemia, Familial 48
Familial Dysfibrinogenemia 48

Classifications:



Summaries for Dysfibrinogenemia

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NIH Rare Diseases:48 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 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.

Wikipedia:71 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 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 & Phenotypes for Dysfibrinogenemia

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MGI Mouse Phenotypes related to Dysfibrinogenemia according to GeneCards Suite gene sharing:

41
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

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 Dysfibrinogenemia27

Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

36
Liver, Testes, Kidney, Bone, Bone marrow

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
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. (27684817)
2016
4
Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. (27060305)
2016
5
Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen AI+ chain and impairs fibrin polymerization. (27555433)
2016
6
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. (27993886)
2016
7
Management of pregnancy in dysfibrinogenemia cases: a dilemma. (26757015)
2016
8
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. (26460252)
2015
9
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. (25816717)
2015
10
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. (25982359)
2015
11
Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation. (26006300)
2015
12
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. (25828970)
2015
13
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. (26057201)
2015
14
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. (26510121)
2015
15
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. (25613923)
2015
16
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. (26524418)
2015
17
Natural history of patients with congenital dysfibrinogenemia. (25320241)
2014
18
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
19
A dysfibrinogenemia leading to resistance to bovine thrombin. (25103594)
2014
20
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. (24881919)
2014
21
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. (23129109)
2013
22
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24513323)
2013
23
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. (23518794)
2013
24
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
25
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
26
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
27
The dilemma of inherited dysfibrinogenemia during pregnancy. (23135383)
2012
28
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. (22449744)
2012
29
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
2012
30
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. (22169505)
2012
31
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. (22001526)
2012
32
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. (22576285)
2012
33
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. (22407772)
2012
34
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
35
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. (21112076)
2011
36
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
37
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
38
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. (19923982)
2010
39
Comparison of the fibrinogen Clauss assay and the fibrinogen PT derived method in patients with dysfibrinogenemia. (20947138)
2010
40
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
41
Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. (20829681)
2010
42
Pancreatic pseudocyst-inferior vena cava fistula causing caval stenosis, left renal vein thrombosis, subcutaneous fat necrosis, arthritis and dysfibrinogenemia. (21090560)
2010
43
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. (19420351)
2009
44
Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution. (19949684)
2009
45
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function. (19404553)
2009
46
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
47
Treatment of patients with dysfibrinogenemia and a history of abortions during pregnancy. (19357502)
2009
48
Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen. (19718467)
2009
49
Acquired dysfibrinogenemia secondary to multiple myeloma. (18841003)
2008
50
A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. (18832913)
2008

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
1cell cortexGO:000593810.4FGA, FGB, FGG
2external side of plasma membraneGO:000989710.4FGA, FGB, FGG
3fibrinogen complexGO:000557710.1FGA, FGB, FGG
4extracellular vesicleGO:190356110.0F5, FGA, FGB
5platelet alpha granuleGO:00310919.7F5, FGA, FGB, FGG
6cell surfaceGO:00099869.0FGA, FGB, FGG, PLAT, THBD
7blood microparticleGO:00725628.4ALB, F13A1, F2, FGA, FGB, FGG
8platelet alpha granule lumenGO:00310938.2ALB, F13A1, F5, FGA, FGB, FGG
9extracellular exosomeGO:00700627.6ALB, F2, FGA, FGB, FGG, PLAT
10extracellular regionGO:00055766.7ALB, F13A1, F2, F5, FGA, FGB
11extracellular spaceGO:00056156.5ALB, F2, F5, FGA, FGB, FGG

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.5FGA, FGB
2blood coagulation, fibrin clot formationGO:007237810.3FGA, FGB, FGG
3cell-matrix adhesionGO:000716010.3FGA, FGB, FGG
4cellular protein complex assemblyGO:004362310.3FGA, FGB, FGG
5extracellular matrix organizationGO:003019810.2FGA, FGB, FGG
6negative regulation of endothelial cell apoptotic processGO:200035210.2FGA, FGB, FGG
7negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.2FGA, FGB, FGG
8platelet aggregationGO:007052710.2FGA, FGB, FGG
9positive regulation of ERK1 and ERK2 cascadeGO:007037410.2FGA, FGB, FGG
10positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
11positive regulation of heterotypic cell-cell adhesionGO:003411610.1FGA, FGB, FGG
12positive regulation of peptide hormone secretionGO:009027710.1FGA, FGB, FGG
13positive regulation of protein secretionGO:005071410.1FGA, FGB, FGG
14positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.1FGA, FGB, FGG
15positive regulation of vasoconstrictionGO:004590710.1FGA, FGB, FGG
16protein polymerizationGO:005125810.0FGA, FGB, FGG
17negative regulation of fibrinolysisGO:005191810.0F2, THBD
18negative regulation of platelet activationGO:001054410.0F2, THBD
19negative regulation of proteolysisGO:00458619.7F2, PLAT
20response to calcium ionGO:00515929.6FGA, FGB, FGG
21plasminogen activationGO:00316399.4FGA, FGB, FGG, PLAT
22platelet degranulationGO:00025768.9ALB, F13A1, F5, FGA, FGB, FGG
23fibrinolysisGO:00427308.8F2, FGA, FGB, FGG, PLAT
24blood coagulationGO:00075966.7F13A1, F2, F5, FGA, FGB, FGG

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.3FGA, FGB, FGG
2protein binding, bridgingGO:003067410.3FGA, FGB, FGG
3structural molecule activityGO:00051989.6FGA, FGB, FGG
4serine-type endopeptidase activityGO:00042529.3F2, F5, PLAT
5receptor bindingGO:00051028.8F2, FGA, FGB, FGG, PLAT

Sources for Dysfibrinogenemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet