MCID: DYS026
MIFTS: 46

Dysfibrinogenemia malady

Genetic category

Summaries for Dysfibrinogenemia

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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: Dysfibrinogenemia, also known as congenital dysfibrinogenemia, is related to sneddon syndrome and afibrinogenemia. An important gene associated with Dysfibrinogenemia is FGA (fibrinogen alpha chain), and among its related pathways are GRB2:SOS provides linkage to MAPK signaling for Intergrins and Non-integrin membrane-ECM interactions. The compounds warfarin and cardiolipin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, kidney and liver, and related mouse phenotypes are reproductive system and digestive/alimentary.

Wikipedia:64 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Aliases & Classifications for Dysfibrinogenemia

Sources:
43NIH Rare Diseases, 22GTR, 45Novoseek, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

dysfibrinogenemia 43 22 45 61
congenital dysfibrinogenemia 43
hereditary dysfibrinogenemia 61
dysfibrinogenemia, familial 43


Related Diseases for Dysfibrinogenemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Dysfibrinogenemia family:

dysfibrinogenemia, beta type dysfibrinogenemia, gamma type

Diseases related to Dysfibrinogenemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1sneddon syndrome29.9SERPINC1
2afibrinogenemia29.9FGB, FGA
3placental abruption29.9SERPINC1, F5
4arthritis29.9F10, ALB
5vascular disease29.9FGA, SERPINC1, PLAT, F5, F13A1, THBD
6thrombophilia29.8SERPINC1, SERPIND1, THBD, PLAT, F2, FGA
7dysfibrinogenemia, alpha type, causing bleeding diathesis10.1
8dysfibrinogenemia, alpha type, causing recurrent thrombosis10.1
9dysfibrinogenemia, beta type10.1
10dysfibrinogenemia, gamma type10.1
11chronic thromboembolic pulmonary hypertension10.1
12sickle cell disease10.0FGA
13pneumonia10.0FGA
14ovarian cancer10.0FGA
15dilated cardiomyopathy10.0FGA
16cerebrovascular disease10.0F13A1
17hemolytic-uremic syndrome10.0THBD
18stomach cancer10.0FGA
19polycythemia vera10.0THBD
20psoriasis10.0F13A1
21purpura10.0SERPINC1
22respiratory failure10.0SERPINC1
23age related macular degeneration10.0PLAT
24central retinal artery occlusion10.0PLAT
25carotid artery disease10.0PLAT
26crohn's disease10.0ALB
27uremia10.0ALB
28angioedema10.0PLAT
29diabetic retinopathy10.0ALB
30ulcerative colitis10.0ALB
31hepatitis a10.0F2
32dengue shock syndrome10.0THBD
33multiple sclerosis10.0ALB
34intracranial hypertension10.0ALB
35hepatopulmonary syndrome10.0ALB
36glomerulonephritis10.0ALB
37malaria10.0ALB
38patent foramen ovale10.0F5
39myeloma10.0ALB
40primary pulmonary hypertension10.0THBD, FGA
41pancreatitis10.0ALB
42cystic fibrosis10.0ALB
43hypersplenism10.0F2
44acute leukemia10.0FGA
45hemangioma10.0F13A1
46endophthalmitis10.0PLAT
47lung cancer10.0ALB
48branch retinal artery occlusion10.0F5
49eclampsia10.0SERPINC1, THBD
50retinal vascular occlusion10.0F5

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Clinical Features for Dysfibrinogenemia

Drugs & Therapeutics for Dysfibrinogenemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dysfibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Dysfibrinogenemia

Search NIH Clinical Center for Dysfibrinogenemia

Search CenterWatch for Dysfibrinogenemia

Genetic Tests for Dysfibrinogenemia

Sources:
22GTR
See all sources

Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia22

Anatomical Context for Dysfibrinogenemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dysfibrinogenemia:

33
Bone marrow, Kidney, Liver, T cells, B cells, Fetal liver

Animal Models for Dysfibrinogenemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Dysfibrinogenemia

Sources:
51PubMed
See all sources

Articles related to Dysfibrinogenemia:

(show top 50)    (show all 135)
idTitleAuthorsYear
1
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. (22842111)
2013
2
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. (24182551)
2013
3
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. (22169505)
2012
4
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. (22001526)
2012
5
The dilemma of inherited dysfibrinogenemia during pregnancy. (23135383)
2012
6
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. (22407772)
2012
7
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. (19923982)
2010
8
Comparison of the fibrinogen Clauss assay and the fibrinogen PT derived method in patients with dysfibrinogenemia. (20947138)
2010
9
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). (19809304)
2009
10
Treatment of patients with dysfibrinogenemia and a history of abortions during pregnancy. (19357502)
2009
11
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. (19420351)
2009
12
Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. (18024387)
2007
13
Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. (17492257)
2007
14
Analysis of hypofibrinogenemias found on routine coagulation screening tests and identification of heterozygous dysfibrinogenemia or fibrinogen deficiency]. (18154029)
2007
15
Fibrinogen NovA1 JicA-n and Praha II: cases of hereditary Aalpha 16 Arg-->Cys and Aalpha 16 Arg-->His dysfibrinogenemia. (17408725)
2007
16
Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding. (16834739)
2006
17
Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. (14995986)
2004
18
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
19
Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. (12956852)
2003
20
Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerization and peptide B release. (12695754)
2003
21
Fibrinogen variation: a heterozygote dysfibrinogenemia with Arg-->His substitution in position 16 of the Aalpha chain]. (12193970)
2002
22
Identification of a dysfibrinogenemia of gammaR275C (Fibrinogen Fukushima). (12367780)
2002
23
Three new cases of dysfibrinogenemia: Poissy III, Saint-Germain I and Tahiti. (11672582)
2001
24
Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)
2000
25
Fibrinogen AlA"s: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a". (11071644)
2000
26
Erythrocyte hyperaggregation and thrombogenic dysfibrinogenemia. (9741663)
1998
27
Congenital dysfibrinogenemia. (9288470)
1997
28
Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation. (7546154)
1995
29
Fibrinogenemia Tampere--a dysfibrinogenemia with defective gelation and thromboembolic disease. (7631313)
1995
30
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
31
Severe congenital dysfibrinogenemia (fibrinogen-Riyadh): a family study. (1292308)
1992
32
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
33
Fibrinogen Nijmegen: congenital dysfibrinogenemia associated with impaired t-PA mediated plasminogen activation and decreased binding of t-PA. (3142089)
1988
34
Dysfibrinogenemia and lupus anticoagulant in a patient with recurrent thrombosis. (3119749)
1987
35
Study of the formation of fibrin clot in cirrhotic patients. An approach to study of acquired dysfibrinogenemia. (3629544)
1987
36
Acquired dysfibrinogenemia secondary to mithramycin toxicity. (2940861)
1986
37
Role of sialic acid in acquired dysfibrinogenemia associated with liver cirrhosis. (3576054)
1986
38
Fibrinogen LogroA+o. A new case of congenital dysfibrinogenemia. (6522973)
1984
39
Congenital dysfibrinogenemia. (6150812)
1984
40
A new dysfibrinogenemia: fibrinogen Oslo IV. (6868008)
1983
41
Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules. (6217586)
1982
42
A kinetic method for characterization of heterogenous fibrinogen and its application to fibrinogen Grand Rapids, a congenital dysfibrinogenemia. (6217579)
1982
43
Fibrinogen New Orleans: hereditary dysfibrinogenemia with an A alpha chain abnormality. (6801812)
1982
44
Fibrinogen Petoskey: identification of a new dysfibrinogenemia characterized by altered release of fibrinopeptide A. (6459662)
1981
45
Fibrinogen and dysfibrinogenemia. (7447388)
1980
46
Dysfibrinogenemia associated with hepatoma. Increased carbohydrate content of the fibrinogen molecule. (207986)
1978
47
Dysfibrinogenemia associated with liver disease. (874092)
1977
48
Proceedings: A new type of congenital dysfibrinogenemia (fibrinogen Tokyo) with defective stabilization of fibrin polymers. (1188745)
1975
49
Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release. (5564389)
1971
50
Studies on a family with dysfibrinogenemia. (5708123)
1968

Genetic Variations for Dysfibrinogenemia

Expression for genes affiliated with Dysfibrinogenemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dysfibrinogenemia

Search GEO for disease gene expression data for Dysfibrinogenemia.

Pathways for genes affiliated with Dysfibrinogenemia

Sources:
54Reactome, 12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems, 30KEGG
See all sources

Pathways related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6FGB, FGA, FGG
2
Hide members
9.6FGB, FGG, FGA
3
Cell adhesion ECM remodeling
Hide members
9.2FGG, FGA, FGB, PLAT
49.2FGA, FGG, FGB, PLAT
59.1F10, F2
6
Hide members
9.1F2, F10
7
Hide members
9.1F2, FGB, FGG, FGA
89.1FGB, FGA, FGG, F2
9
Hide members
9.1FGG, FGB, F2, FGA
109.0ALB, PLAT, F2
11
Hide members
8.1FGA, ALB, FGG, F13A1, F5, FGB
12
Hide members
7.4FGA, FGG, F2, PLAT, ALB, THBD
13
Hide members
6.5F5, F10, F13A1, FGB, FGA, FGG
14
Hide members
6.5F5, F10, F13A1, FGB, FGA, FGG
15
Hide members
5.8SERPINC1, SERPIND1, THBD, F5, F10, F13A1
16
Hide members
5.8F5, F10, F13A1, FGB, FGA, FGG

Compounds for genes affiliated with Dysfibrinogenemia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 165)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.2FGA, SERPINC1
2cardiolipin45 1110.7F10
3sucralfate45 1110.5FGG, ALB, FGB, FGA
4heparin sodium459.4F2, PLAT, THBD
5serine459.2FGA, F10, SERPIND1
6desirudin459.2FGA, PLAT, F10
7inogatran459.1F2, F5, SERPINC1
8heparin45 29 11 2412.1F10, F13A1, FGA, SERPIND1
9dextran 70459.1F2, PLAT, ALB
10efegatran459.0F10, PLAT, SERPINC1
11hepaplastin459.0SERPINC1, F2, ALB
12fibrinopeptide a458.9FGA, F2, PLAT, THBD, SERPINC1
13nafamostat mesilate458.9SERPINC1, FGA, F5
14ristocetin458.8F5, F2, PLAT, SERPINC1
15cacl2458.8FGA, THBD, F5, F10
16hirugen458.7FGA, F5, THBD, SERPINC1, F2
17levonorgestrel45 60 29 1111.7F2, PLAT, SERPINC1, F5
18batroxobin458.7F5, FGB, PLAT, F2, FGA
19tirofiban45 119.6F10, F2, SERPINC1, PLAT
20benzamidine45 119.6SERPINC1, THBD, F10, F5
21pge1458.6THBD, PLAT, F2, FGA, F5
22desmopressin45 60 29 1111.5SERPINC1, THBD, F2, F5, PLAT
23ecarin458.5F5, SERPINC1, F10, F2
24danaparoid458.5F2, SERPINC1, F10, F5
25gamma-carboxyglutamic acid458.5THBD, F2, F5, F10
26abciximab45 119.4F2, SERPINC1, F10, PLAT
27ppack458.4F10, SERPINC1, PLAT, F2, FGA
28clopidogrel50 45 11 2411.3F10, F2, SERPINC1, PLAT
29coumarin45 2 50 2411.2FGA, F5, F10, F2, SERPINC1
30ximelagatran45 119.2SERPINC1, F2, THBD, F10, F5
31spectrozyme458.1PLAT, F10, SERPINC1, F5, F2
32protamine sulfate458.0F2, F10, PLAT, F5, SERPINC1
33homocysteine45 249.0THBD, PLAT, F5, SERPINC1, ALB, F2
34aprotinin45 119.0THBD, PLAT, FGA, F10, F5, SERPINC1
35heparinoids457.8THBD, F2, F13A1, F10, F5, SERPINC1
36protamine457.8F5, F10, PLAT, FGA, SERPINC1, F2
37fondaparinux457.7F5, F10, F2, PLAT, THBD, SERPINC1
38kininogen457.6ALB, SERPINC1, F13A1, F5, F2, THBD
39creatinine457.6F5, SERPINC1, THBD, ALB, FGA, F2
40polyethylene glycol457.6F5, F2, THBD, SERPINC1, ALB, F10
41simvastatin45 50 60 29 11 2412.6F10, F2, PLAT, THBD, F5
42citrate457.6F5, THBD, F2, ALB, SERPINC1, F10
43ascorbic acid45 248.6ALB, THBD, SERPINC1, PLAT, F10, F5
44bivalirudin45 118.5F5, F10, FGA, PLAT, THBD, SERPINC1
45argatroban45 118.5F10, THBD, SERPINC1, PLAT, F2, FGA
46ancrod457.5SERPINC1, F10, FGA, F2, PLAT, THBD
47dermatan sulfate457.4SERPIND1, THBD, PLAT, F2, F10, F5
48hirudin457.2F10, FGB, FGA, F2, PLAT, THBD
49aspirin45 50 29 2410.1F2, PLAT, THBD, FGA, F10, F13A1
50fibrinogen455.7ALB, F5, F10, SERPINC1, SERPIND1, THBD

GO Terms for genes affiliated with Dysfibrinogenemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Dysfibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.9FGB, FGG
2fibrinogen complexGO:0055779.8FGB, FGA, FGG
3platelet alpha granuleGO:0310919.7FGG, FGA, FGB
4external side of plasma membraneGO:0098979.6FGG, FGA, FGB
5cell cortexGO:0059389.5FGB, FGG, FGA
6cell surfaceGO:0099868.9FGB, FGG, PLAT, THBD, FGA
7platelet alpha granule lumenGO:0310938.3F5, F13A1, FGB, FGA, ALB, FGG
8extracellular spaceGO:0056156.9F5, FGB, FGA, FGG, ALB, SERPINC1
9plasma membraneGO:0058866.6SERPINC1, THBD, F2, FGA, FGB, F10
10extracellular regionGO:0055765.8ALB, F5, F10, F13A1, SERPINC1, SERPIND1

Biological processes related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.8FGA, FGG, FGB
2response to calcium ionGO:0515929.8FGG, FGA, FGB
3negative regulation of platelet activationGO:0105449.7THBD, F2
4negative regulation of fibrinolysisGO:0519189.7THBD, F2
5negative regulation of proteolysisGO:0458619.4F2, PLAT
6fibrinolysisGO:0427309.2PLAT, F2
7peptidyl-glutamic acid carboxylationGO:0171879.1F2, F10
8blood coagulation, intrinsic pathwayGO:0075979.1F2, F10
9platelet degranulationGO:0025768.3FGG, FGA, FGB, F13A1, F5, ALB
10platelet activationGO:0301687.8F5, F13A1, FGB, FGA, F2, ALB
11blood coagulationGO:0075965.5PLAT, F5, F10, F13A1, FGB, FGA

Molecular functions related to Dysfibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.5FGB, FGA, FGG
2receptor bindingGO:0051028.8FGB, FGA, FGG, F2
3serine-type endopeptidase activityGO:0042528.7F10, F2, PLAT

Products for genes affiliated with Dysfibrinogenemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysfibrinogenemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet