MCID: DYS026
MIFTS: 45

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 afibrinogenemia, congenital and dysfibrinogenemia, congenital, and has symptoms including gingival bleeding, epistaxis and gastrointestinal hemorrhage. An important gene associated with Dysfibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways are Oncogenic MAPK signaling and ECM-receptor interaction. 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 142)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia, congenital31.5FGA, FGB, FGG
2dysfibrinogenemia, congenital12.3
3stt3a-cdg and stt3b-cdg10.2F5, SERPINC1
4cataract10.2ALB, SERPINC1
5myosclerosis, congenital10.2F5, SERPINC1
6thrombosis10.2
7nondystrophic myotonia10.2ALB, F2
8neuronopathy, distal hereditary motor, type iid10.2F5, SERPINC1
9congenital insensitivity to pain with severe intellectual disability10.2F2, F5
10pharynx carcinoma in situ10.1ALB, F2
11lubinsky syndrome10.1F2, F5
12supraumbilical midabdominal raphe and facial cavernous hemangiomas10.1F2, F5
13female infertility of uterine origin10.1ALB, F2
14oxyphilic adenoma10.1F2, F5
15bile duct cystadenocarcinoma10.1ALB, F2
16hendra virus infection10.1F2, F5
17stroke, ischemic10.1F2, F5
18hypertrichosis10.1F5, FGA, SERPINC1
19duane retraction syndrome10.1ALB, F2
20miller-dieker lissencephaly syndrome10.1F2, SERPINC1
21chronic inflammatory demyelinating polyneuritis10.1ALB, F2
22photosensitive epilepsy10.1F2, F5
23influenza10.1F2, SERPINC1
24mixed epithelial tumor of ovary10.1F2, SERPINC1
25chorioretinal scar10.1F2, SERPINC1
26mixed hepatoblastoma10.1F2, SERPINC1
27rectal prolapse10.1F13A1, F5
28may-hegglin anomaly10.1F2, SERPINC1
29scn8a-related epilepsy with encephalopathy10.1F13A1, F2
30inherited blood coagulation disease10.1F13A1, F5
31unverricht-lundborg syndrome10.1FGB, PLAT
32exophthalmic ophthalmoplegia10.1ALB, F5, SERPINC1
33dmd-related dilated cardiomyopathy10.1F2, SERPINC1
34citrulline transport defect10.1F2, FGA, FGB
35fletcher factor deficiency10.1F2, F5
36chronic tic disorder10.1ALB, F5, SERPINC1
37spinal cord lipoma10.1F2, SERPINC1
38midline cystocele10.1F2, SERPINC1
39schwannoma of jugular foramen10.1F2, SERPINC1
40bladder hepatoid adenocarcinoma10.1F5, THBD
41benign deep fibrous histiocytoma10.0ALB, F2, FGB
42cerebellar astrocytoma10.0F2, SERPINC1
43periosteal chondrosarcoma10.0F2, SERPINC1
44myotonic dystrophy10.0F2, F5
45brazilian hemorrhagic fever10.0PLAT, SERPINC1
46czech dysplasia10.0F5, SERPINC1, THBD
47mental retardation hypotonia skin hyperpigmentation10.0F5, SERPINC1, THBD
48liver disease10.0
49melorheostosis10.0PLAT, SERPINC1
50immunodeficiency 32a, mycobacteriosis, autosomal dominant10.0PLAT, THBD

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Symptoms & Phenotypes for Dysfibrinogenemia

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Human phenotypes related to Dysfibrinogenemia:

 64
id Description HPO Frequency HPO Source Accession
1 gingival bleeding64 HP:0000225
2 epistaxis64 HP:0000421
3 gastrointestinal hemorrhage64 HP:0002239
4 venous thrombosis64 HP:0004936

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3ALB, F5, FGA, SERPINC1, THBD
2MP:00053808.8F2, F5, FGA, FGG, SERPINC1, THBD
3MP:00053977.5F13A1, F2, FGA, FGG, PLAT, SERPINC1
4MP:00053856.8F13A1, F2, F5, FGA, FGB, FGG
5MP:00053896.7F13A1, F2, FGA, FGB, FGG, PLAT
6MP:00053766.6ALB, F13A1, F2, F5, FGA, FGG
7MP: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 Agents2388
2Factor VIII316
3Anticoagulants2623

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 DisordersUnknown statusNCT02324517

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-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
2
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. (27684817)
2016
3
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. (27933517)
2016
4
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. (27408401)
2016
5
Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. (27060305)
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
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
9
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. (25613923)
2015
10
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. (26057201)
2015
11
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. (25982359)
2015
12
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. (26460252)
2015
13
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. (25828970)
2015
14
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. (26524418)
2015
15
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. (26510121)
2015
16
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. (25816717)
2015
17
A dysfibrinogenemia leading to resistance to bovine thrombin. (25103594)
2014
18
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). (24482809)
2014
19
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. (24881919)
2014
20
Natural history of patients with congenital dysfibrinogenemia. (25320241)
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
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. (23962069)
2013
24
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
25
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. (23518794)
2013
26
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
27
The dilemma of inherited dysfibrinogenemia during pregnancy. (23135383)
2012
28
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. (22407772)
2012
29
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. (22449744)
2012
30
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. (22836217)
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
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. (22169505)
2012
34
Acquired dysfibrinogenemia in atherosclerotic vascular disease. (21952526)
2011
35
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. (21112076)
2011
36
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). (20546853)
2010
37
Pancreatic pseudocyst-inferior vena cava fistula causing caval stenosis, left renal vein thrombosis, subcutaneous fat necrosis, arthritis and dysfibrinogenemia. (21090560)
2010
38
Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. (20510102)
2010
39
Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. (20829681)
2010
40
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. (21090055)
2010
41
Comparison of the fibrinogen Clauss assay and the fibrinogen PT derived method in patients with dysfibrinogenemia. (20947138)
2010
42
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. (19923982)
2010
43
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function. (19404553)
2009
44
Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution. (19949684)
2009
45
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
46
Treatment of patients with dysfibrinogenemia and a history of abortions during pregnancy. (19357502)
2009
47
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. (19420351)
2009
48
Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen. (19718467)
2009
49
A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. (18832913)
2008
50
Acquired dysfibrinogenemia secondary to multiple myeloma. (18841003)
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:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6FGA, FGB, FGG
2
Show member pathways
9.6FGA, FGB, FGG
3
Show member pathways
9.6FGA, FGB, FGG
49.6FGA, FGB, FGG
5
Show member pathways
8.9F2, FGA, FGB, FGG
6
Show member pathways
8.9F2, FGA, FGB, FGG
78.9F2, FGA, FGB, FGG
88.7FGA, FGB, FGG, PLAT
9
Show member pathways
8.6ALB, F2, PLAT
10
Show member pathways
7.1F13A1, 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 12)
idNameGO IDScoreTop Affiliating Genes
1cell cortexGO:000593810.4FGA, FGB, FGG
2fibrinogen complexGO:000557710.1FGA, FGB, FGG
3extracellular vesicleGO:190356110.0F5, FGA, FGB
4external side of plasma membraneGO:00098979.8F2, FGA, FGB, FGG
5platelet alpha granuleGO:00310919.7F5, FGA, FGB, FGG
6cell surfaceGO:00099869.0FGA, FGB, FGG, PLAT, THBD
7endoplasmic reticulum lumenGO:00057888.5ALB, F2, F5, FGA, FGG, SERPINC1
8blood microparticleGO:00725628.4ALB, F13A1, F2, FGA, FGB, FGG
9platelet alpha granule lumenGO:00310938.2ALB, F13A1, F5, FGA, FGB, FGG
10extracellular exosomeGO:00700627.7ALB, F2, FGA, FGB, FGG, PLAT
11extracellular regionGO:00055766.7ALB, F13A1, F2, F5, FGA, FGB
12extracellular spaceGO:00056156.6ALB, F2, F5, FGA, FGB, FGG

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.6FGA, FGB
2cell-matrix adhesionGO:000716010.3FGA, FGB, FGG
3cellular protein complex assemblyGO:004362310.3FGA, FGB, FGG
4extracellular matrix organizationGO:003019810.3FGA, FGB, FGG
5negative regulation of endothelial cell apoptotic processGO:200035210.3FGA, FGB, FGG
6negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3FGA, FGB, FGG
7platelet aggregationGO:007052710.3FGA, FGB, FGG
8positive regulation of ERK1 and ERK2 cascadeGO:007037410.2FGA, FGB, FGG
9positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
10positive regulation of heterotypic cell-cell adhesionGO:003411610.2FGA, FGB, FGG
11positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
12positive regulation of protein secretionGO:005071410.2FGA, FGB, FGG
13positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.2FGA, FGB, FGG
14positive regulation of vasoconstrictionGO:004590710.2FGA, FGB, FGG
15protein polymerizationGO:005125810.1FGA, FGB, FGG
16negative regulation of fibrinolysisGO:005191810.0F2, THBD
17negative regulation of platelet activationGO:001054410.0F2, THBD
18response to calcium ionGO:005159210.0FGA, FGB, FGG
19regulation of blood coagulationGO:003019310.0F2, SERPINC1
20blood coagulation, fibrin clot formationGO:00723789.8F13A1, FGA, FGB, FGG
21negative regulation of proteolysisGO:00458619.7F2, PLAT
22toll-like receptor signaling pathwayGO:00022249.6FGA, FGB, FGG
23plasminogen activationGO:00316399.5FGA, FGB, FGG, PLAT
24platelet activationGO:00301689.3F2, F5, FGA, FGB, FGG
25platelet degranulationGO:00025768.9ALB, F13A1, F5, FGA, FGB, FGG
26post-translational protein modificationGO:00436878.9ALB, F5, FGA, FGG, SERPINC1, SERPIND1
27fibrinolysisGO:00427308.8F2, FGA, FGB, FGG, PLAT
28cellular protein metabolic processGO:00442678.4ALB, F2, F5, FGA, FGG, SERPINC1
29hemostasisGO:00075997.5F13A1, F2, F5, FGA, FGB, FGG
30blood 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:003067410.2FGA, FGB, FGG
3heparin bindingGO:00082019.7F2, SERPINC1, SERPIND1
4structural molecule activityGO:00051989.6FGA, FGB, FGG
5receptor bindingGO:00051028.7F2, 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