MCID: DYS026
MIFTS: 41

Dysfibrinogenemia malady

Genetic diseases category

Summaries for Dysfibrinogenemia

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 myeloma and factor v deficiency. 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 liver and testes, and related mouse phenotypes are reproductive system and digestive/alimentary.

Wikipedia:63 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Aliases & Classifications for Dysfibrinogenemia

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42NIH Rare Diseases, 22GTR, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

dysfibrinogenemia 42 22 44 60
congenital dysfibrinogenemia 42
hereditary dysfibrinogenemia 60
dysfibrinogenemia, familial 42


Related Diseases for Dysfibrinogenemia

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Sources:
17GeneCards, 18GeneDecks
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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 158)
idRelated DiseaseScoreTop Affiliating Genes
1myeloma30.1ALB
2factor v deficiency30.1F2, F5
3hypertension30.0F2, F5, PLAT, ALB
4factor vii deficiency30.0F2, F10, F5, SERPINC1
5sneddon syndrome29.8SERPINC1
6pancreatitis29.8ALB
7placental abruption29.8SERPINC1, F5
8von willebrand's disease29.8F5, F2
9arthritis29.8F10, ALB
10ischemia29.8F10, FGA, PLAT
11factor x deficiency29.8F2, F10, F5
12protein c deficiency29.8F5, F2, THBD, SERPIND1, SERPINC1
13liver cirrhosis29.8ALB, F2, SERPINC1, F10
14vascular disease29.8FGA, SERPINC1, PLAT, F5, F13A1, THBD
15thrombophilia29.8SERPINC1, SERPIND1, THBD, PLAT, F2, FGA
16liver disease10.3
17multiple myeloma10.1
18dysfibrinogenemia, alpha type, causing bleeding diathesis10.1
19dysfibrinogenemia, alpha type, causing recurrent thrombosis10.1
20dysfibrinogenemia, beta type10.1
21dysfibrinogenemia, gamma type10.1
22sickle cell disease10.0FGA
23pneumonia10.0FGA
24ovarian cancer10.0FGA
25dilated cardiomyopathy10.0FGA
26cerebrovascular disease10.0F13A1
27hemolytic-uremic syndrome10.0THBD
28stomach cancer10.0FGA
29polycythemia vera10.0THBD
30psoriasis10.0F13A1
31purpura10.0SERPINC1
32respiratory failure10.0SERPINC1
33age related macular degeneration10.0PLAT
34central retinal artery occlusion10.0PLAT
35carotid artery disease10.0PLAT
36crohn's disease10.0ALB
37uremia10.0ALB
38angioedema10.0PLAT
39diabetic retinopathy10.0ALB
40ulcerative colitis10.0ALB
41hepatitis a10.0F2
42dengue shock syndrome10.0THBD
43multiple sclerosis10.0ALB
44intracranial hypertension10.0ALB
45hepatopulmonary syndrome10.0ALB
46glomerulonephritis10.0ALB
47malaria10.0ALB
48patent foramen ovale10.0F5
49primary pulmonary hypertension10.0THBD, FGA
50afibrinogenemia10.0FGB, FGA

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to dysfibrinogenemia

Clinical Features for Dysfibrinogenemia

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Drugs & Therapeutics for Dysfibrinogenemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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22GTR
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Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia22

Anatomical Context for Dysfibrinogenemia

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32MalaCards
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MalaCards organs/tissues related to Dysfibrinogenemia:

32
Liver, Testes

Animal Models for Dysfibrinogenemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dysfibrinogenemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8SERPINC1, FGA, F10, FGG
2MP:00053818.4ALB, PLAT, F2, FGA, THBD
3MP:00053708.2THBD, SERPINC1, ALB, F5, FGA
4MP:00053888.2THBD, F2, FGG, PLAT, F13A1
5MP:00053858.1SERPIND1, F10, F13A1, FGA, FGG, F2
6MP:00053808.0F2, SERPINC1, THBD, F5, FGA, FGG
7MP:00053977.6PLAT, SERPINC1, THBD, F2, FGG, SERPIND1
8MP:00053765.7F10, SERPINC1, F13A1, FGA, FGG, F2
9MP:00107685.7PLAT, THBD, ALB, SERPINC1, SERPIND1, F5

Publications for Dysfibrinogenemia

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Genetic Variations for Dysfibrinogenemia

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Expression for genes affiliated with Dysfibrinogenemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems, 29KEGG
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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
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9.2FGG, FGA, FGB, PLAT
49.2FGA, FGG, FGB, PLAT
59.1F10, F2
6
Hide members
9.1F2, F10
7
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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
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7.4FGA, FGG, F2, PLAT, ALB, THBD
13
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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

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Dysfibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 165)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.2FGA, SERPINC1
2cardiolipin44 1110.7F10
3sucralfate44 1110.5FGG, ALB, FGB, FGA
4heparin sodium449.4F2, PLAT, THBD
5serine449.2FGA, F10, SERPIND1
6desirudin449.2FGA, PLAT, F10
7inogatran449.1F2, F5, SERPINC1
8heparin44 28 11 2412.1F10, F13A1, FGA, SERPIND1
9dextran 70449.1F2, PLAT, ALB
10efegatran449.0F10, PLAT, SERPINC1
11hepaplastin449.0SERPINC1, F2, ALB
12fibrinopeptide a448.9FGA, F2, PLAT, THBD, SERPINC1
13nafamostat mesilate448.9SERPINC1, FGA, F5
14ristocetin448.8F5, F2, PLAT, SERPINC1
15cacl2448.8FGA, THBD, F5, F10
16hirugen448.7FGA, F5, THBD, SERPINC1, F2
17levonorgestrel44 59 28 1111.7F2, PLAT, SERPINC1, F5
18batroxobin448.7F5, FGB, PLAT, F2, FGA
19tirofiban44 119.6F10, F2, SERPINC1, PLAT
20benzamidine44 119.6SERPINC1, THBD, F10, F5
21pge1448.6THBD, PLAT, F2, FGA, F5
22desmopressin44 59 28 1111.5SERPINC1, THBD, F2, F5, PLAT
23ecarin448.5F5, SERPINC1, F10, F2
24danaparoid448.5F2, SERPINC1, F10, F5
25gamma-carboxyglutamic acid448.5THBD, F2, F5, F10
26abciximab44 119.4F2, SERPINC1, F10, PLAT
27ppack448.4F10, SERPINC1, PLAT, F2, FGA
28clopidogrel49 44 11 2411.3F10, F2, SERPINC1, PLAT
29coumarin44 2 49 2411.2FGA, F5, F10, F2, SERPINC1
30ximelagatran44 119.2SERPINC1, F2, THBD, F10, F5
31spectrozyme448.1PLAT, F10, SERPINC1, F5, F2
32protamine sulfate448.0F2, F10, PLAT, F5, SERPINC1
33homocysteine44 249.0THBD, PLAT, F5, SERPINC1, ALB, F2
34aprotinin44 119.0THBD, PLAT, FGA, F10, F5, SERPINC1
35heparinoids447.8THBD, F2, F13A1, F10, F5, SERPINC1
36protamine447.8F5, F10, PLAT, FGA, SERPINC1, F2
37fondaparinux447.7F5, F10, F2, PLAT, THBD, SERPINC1
38kininogen447.6ALB, SERPINC1, F13A1, F5, F2, THBD
39creatinine447.6F5, SERPINC1, THBD, ALB, FGA, F2
40polyethylene glycol447.6F5, F2, THBD, SERPINC1, ALB, F10
41simvastatin44 49 59 28 11 2412.6F10, F2, PLAT, THBD, F5
42citrate447.6F5, THBD, F2, ALB, SERPINC1, F10
43ascorbic acid44 248.6ALB, THBD, SERPINC1, PLAT, F10, F5
44bivalirudin44 118.5F5, F10, FGA, PLAT, THBD, SERPINC1
45argatroban44 118.5F10, THBD, SERPINC1, PLAT, F2, FGA
46ancrod447.5SERPINC1, F10, FGA, F2, PLAT, THBD
47dermatan sulfate447.4SERPIND1, THBD, PLAT, F2, F10, F5
48hirudin447.2F10, FGB, FGA, F2, PLAT, THBD
49aspirin44 49 28 2410.1F2, PLAT, THBD, FGA, F10, F13A1
50fibrinogen445.7ALB, F5, F10, SERPINC1, SERPIND1, THBD

GO Terms for genes affiliated with Dysfibrinogenemia

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysfibrinogenemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet