MCID: DYS026
MIFTS: 41

Dysfibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

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

Aliases & Descriptions for Dysfibrinogenemia:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 98881
ICD10 via Orphanet28 D68.2
UMLS65 C1260903, C0272350

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 iron deficiency anemia and ocular hypertension, 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 Platelet activation. Affiliated tissues include liver, testes and brain, and related mouse phenotypes are liver/biliary system and embryo.

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 233)
idRelated DiseaseScoreTop Affiliating Genes
1iron deficiency anemia30.2ALB, F2
2ocular hypertension29.7ALB, F5, SERPINC1, THBD
3adenocarcinoma29.1F2, F5, PLAT, SERPINC1
4dysfibrinogenemia, congenital12.6
5afibrinogenemia, congenital10.3
6spinocerebellar atrophy10.3F5, SERPINC1
7lateral sinus thrombosis10.3F5, SERPINC1
8tetanus10.3ALB, F5
9sertoli cell tumor10.3F5, SERPINC1
10hypoganglionosis10.3FGA, FGB, FGG
11peripheral motor neuropathy-dysautonomia syndrome10.3FGA, FGB, FGG
12congenital chloride diarrhea10.3FGA, SERPINC1
13amyloidosis, familial visceral10.3FGA, FGB, FGG
14panic disorder10.3F5, SERPINC1
15angioedema, hereditary, type iii10.3F5, SERPINC1
16angioedema10.3ALB, F13A1
17coagulation protein disease10.2F13A1, F5
18askin's tumor10.2ALB, F2
19tall stature-scoliosis-macrodactyly of the great toes syndrome10.2F2, F5
20hemolytic-uremic syndrome10.2ALB, F2
21splenic abscess10.2ALB, F2
22duodenogastric reflux10.2ALB, F2
23liver failure acute infantile10.2F2, F5
24sugarman brachydactyly10.2F2, F5
25internuclear ophthalmoplegia10.2F2, F5
26brain injury10.2
27retinitis10.2
28microscopic colitis10.2F2, F5
29t cell deficiency10.2ALB, F2
30pancreatoblastoma10.2ALB, F2
31dysthymic disorder10.2F2, F5
32myopathy of extraocular muscle10.2F13A1, F5
33pontocerebellar hypoplasia10.2F2, F5
34diverticulitis of colon10.2F2, F5
35facioscapulohumeral muscular dystrophy 110.2F2, F5
36moderately severe hemophilia a10.2F2, F5
37acute lymphoblastic leukemia, childhood10.2ALB, F2
38esophagus melanoma10.2F2, SERPINC1
39oral squamous cell carcinoma10.2F2, F5
40cyclothymic disorder10.2F2, SERPINC1
41homocystinuria due to cbs deficiency10.2F2, F5
42cavernous hemangioma of colon10.2F2, SERPINC1
43silo filler's disease10.2F2, SERPINC1
44multicentric reticulohistiocytosis10.2ALB, F2
45abducens nerve neoplasm10.2F2, SERPINC1
46irak4 deficiency10.1F2, F5
47inferior myocardial infarction10.1F2, SERPINC1
48brain edema10.1ALB, F13A1
49kidney sarcoma10.1F2, SERPINC1
50pulmonary fibrosis, familial10.1F13A1, F2

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
1Fibrinolytic Agents1567
2Factor VIII272
3Anticoagulants1760

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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Anatomical Context for Dysfibrinogenemia

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MalaCards organs/tissues related to Dysfibrinogenemia:

33
Liver, Testes, Brain, Lung, Colon, Dorsal root ganglion, T cells

Animal Models for Dysfibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Dysfibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ALB, F5, FGA, SERPINC1, THBD
2MP:00053808.4F2, F5, FGA, FGG, SERPINC1, THBD
3MP:00053888.0F13A1, F2, FGG, PLAT, THBD
4MP:00053817.9ALB, F2, FGA, PLAT, THBD
5MP:00053897.3F13A1, F2, FGA, FGG, PLAT, SERPINC1
6MP:00053976.7F13A1, F2, FGA, FGG, PLAT, SERPINC1
7MP:00053856.0F13A1, F2, F5, FGA, FGG, PLAT
8MP:00053765.9ALB, F13A1, F2, F5, FGA, FGG
9MP:00107685.8ALB, F13A1, F2, F5, FGA, FGG

Publications for Dysfibrinogenemia

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Articles related to Dysfibrinogenemia:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Association between Polymorphisms of the AKT1 Gene Promoter and Risk of the Alzheimer's Disease in a Chinese Han Population with Type 2 Diabetes. (26178916)
2015
2
Churg-Strauss syndrome from an orthopaedic perspective. (26634374)
2015
3
Can the Frontal Assessment Battery (FAB) help in the diagnosis of behavioural variant frontotemporal dementia? A pragmatic study. (23225696)
2013
4
Differential mechanisms of opioidergic and dopaminergic systems of the ventral hippocampus (CAa88) in anxiolytic-like behaviors induced by cholestasis in mice. (23876451)
2013
5
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. (23220543)
2013
6
Data-driven modeling to assess receptivity for Rift Valley Fever virus. (24244769)
2013
7
Calcium phosphate cements loaded with basic fibroblast growth factor: delivery and in vitro cell response. (22962037)
2013
8
Down syndrome screening in assisted conception twins: an iatrogenic medical challenge. (24193195)
2013
9
Procalcitonin and C-reactive protein levels as diagnostic tools in febrile patients admitted to a General Internal Medicine ward. (22019953)
2012
10
Levels of malondialdehyde, myeloperoxidase and nitrotyrosine in patients with chronic viral hepatitis B and C. (23214299)
2012
11
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2. (22341623)
2012
12
Iatrogenic superior vena cava syndrome during off pump CABG. (23041697)
2012
13
Comparative study of codon substitution patterns in foot-and-mouth disease virus (serotype O). (21825834)
2011
14
Specifying theories of developmental dyslexia: a diffusion model analysis of word recognition. (22010894)
2011
15
Behavioral phenotype in adults with Prader-Willi syndrome. (21227640)
2011
16
Genetic polymorphism of FcI^-receptors IIa, IIIa and IIIb in South Indian patients with generalized aggressive periodontitis. (22167032)
2011
17
Expression of stem-cell markers (cytokeratin 15 and nestin) in primary adnexal neoplasms-clues to etiopathogenesis. (20700038)
2010
18
Novel application of Ki67 to quantify antigen-specific in vitro lymphoproliferation. (20800066)
2010
19
Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment. (19712061)
2009
20
Effects of cadmium on the growth and nitrogen metabolism in Brassica chinensis]. (18613528)
2008
21
Will the real aggrecanase(s) step up: evaluating the criteria that define aggrecanase activity in osteoarthritis. (18289053)
2008
22
Methylene blue delays cellular senescence and enhances key mitochondrial biochemical pathways. (17928358)
2008
23
Molecular evolution of the transferrin receptor/glutamate carboxypeptidase II family. (17160644)
2007
24
Myeloperoxidase as a marker of hemodialysis biocompatibility and oxidative stress: the underestimated modifying effects of heparin. (16377383)
2006
25
Optimized synthesis of AMPA receptor antagonist ZK 187638 and neurobehavioral activity in a mouse model of neuronal ceroid lipofuscinosis. (16972289)
2006
26
A point mutation in the NFYC gene generates an antigenic peptide recognized by autologous cytolytic T lymphocytes on a human squamous cell lung carcinoma. (16287085)
2006
27
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end? (16828071)
2006
28
Acute zonal occult outer retinopathy in the fellow eye 5 years after presentation of punctate inner choroidopathy. (16315044)
2006
29
The perichromosomal layer. (16136320)
2005
30
The KARTAN study: a postmarketing assessment of Irbesartan in patients with hypertension. (15038946)
2004
31
Cytochrome c oxidase of mammals contains a testes-specific isoform of subunit VIb -- the counterpart to testes-specific cytochrome c? (12874793)
2003
32
Alternative 5' exons and differential splicing regulate expression of protein 4.1R isoforms with distinct N-termini. (12522012)
2003
33
Expression of the high capacity calcium-binding domain of calreticulin increases bioavailable calcium stores in plants. (11874098)
2002
34
Brain-derived neurotrophic factor increases in the uninjured dorsal root ganglion neurons in selective spinal nerve ligation model. (11425916)
2001
35
Regulatory phosphorylation of AMPA-type glutamate receptors by CaM-KII during long-term potentiation. (9197267)
1997
36
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. (9020962)
1997
37
Wherefore art thou liver disease associated with alpha-1 antitrypsin deficiency? (7635438)
1995
38
Percutaneous transhepatic cholecystostomy for acute acalculous cholecystitis. (8252358)
1993
39
Ibopamine. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in congestive heart failure. (7906158)
1993
40
Activation of phospholipase D in CHO cells transfected with the human epidermal growth factor (EGF) receptor: differential effects of protein kinase C activation and EGF. (8268243)
1993
41
Subclinical lumbar polyradiculopathy, polyneuritis and ganglionitis in aged wild and exotic mammalians. (8408784)
1993
42
Novel actions of methylene blue. (7507438)
1993
43
Domain structure and domain-domain interactions in human coagulation factor IX. (8473287)
1993
44
Treatment of disseminated intravascular coagulation with antithrombin III concentrate in children with verified infection]. (1614177)
1992
45
Cloning of the rat insulin-like growth factor-binding protein-2 gene and identification of a functional promoter lacking a TATA box. (1707131)
1990
46
Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening. (3612402)
1987
47
Microsomal UDP-glucuronyltransferase-catalyzed bilirubin diglucuronide formation in human liver. (3082969)
1986
48
Silicosis in women. Experience from the Swedish Pneumoconiosis Register. (4009304)
1985
49
Elastosis perforans serpiginosa with truncus arteriosus. Case report. (4424869)
1974
50

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
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
8.5ALB, F2, PLAT
9
Show member pathways
7.2F13A1, F2, F5, FGA, FGB, FGG
10
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
11
Show member pathways
6.0F13A1, F2, F5, FGA, FGB, FGG
12
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:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.7F5, FGA, FGB, FGG
2blood microparticleGO:00725629.4F13A1, FGA, FGB, FGG
3extracellular regionGO:00055768.5F5, PLAT, SERPINC1, SERPIND1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of heterotypic cell-cell adhesionGO:003411610.0FGA, FGB, FGG
2negative regulation of endothelial cell apoptotic processGO:20003529.9FGA, FGB, FGG
3fibrinolysisGO:00427309.9FGA, FGB, FGG
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9FGA, FGB, FGG
5platelet degranulationGO:00025769.7FGA, FGB, FGG
6response to calcium ionGO:00515929.7FGA, FGB, FGG
7positive regulation of exocytosisGO:00459219.7FGA, FGB, FGG
8plasminogen activationGO:00316399.6FGA, FGB, FGG
9platelet activationGO:00301688.6ALB, F13A1, FGA, FGB, FGG
10blood coagulationGO:00075968.5F13A1, F2, F5, FGA

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