MCID: AFB001
MIFTS: 48

Afibrinogenemia malady

Genetic diseases category

Summaries for Afibrinogenemia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord after birth. Nosebleeds (epistaxis), bleeding from the gums or tongue, and bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma) are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, affected women may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

MalaCards: Afibrinogenemia, also known as congenital afibrinogenemia, is related to thrombocytopenia and protein c deficiency. An important gene associated with Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion ECM remodeling and Cell adhesion Plasmin signaling. The compounds warfarin and cardiolipin have been mentioned in the context of this disorder. Affiliated tissues include brain and tongue, and related mouse phenotypes are reproductive system and hematopoietic system.

NIH Rare Diseases:42 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. it occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor i), which is needed for the blood to clot. affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. afibrinogenemia is thought to be transmitted as an autosomal recessive trait. last updated: 7/17/2009

Wikipedia:63 Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally... more...

Description from OMIM:46 202400

Aliases & Classifications for Afibrinogenemia

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

afibrinogenemia 42 22 21 44 60
congenital afibrinogenemia 42 21 10 44
afibrinogenemia, congenital 46
afibrinogenemia congenital 42
familial afibrinogenemia 21


Related Diseases for Afibrinogenemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Congenital Afibrinogenemia family:

afibrinogenemia Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

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

(show top 50)    (show all 164)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia30.1F8, F5, F10, CD46, FGA, F3
2protein c deficiency30.0CFP, F2, F5
3pulmonary embolism30.0F5, F10, FGB, FGA, F3, F2
4hemangioma29.8F8
5peritonitis29.8CR1, F2, CFI
6von willebrand's disease29.8F8, F3, VWF, F2
7hepatitis29.8F2, F10, CR1, F8
8intracranial thrombosis29.8F8, F5, FGA, F3, VWF
9congenital afibrinogenemia10.9
10prostatitis10.1
11prostate cancer10.1
12fga-related congenital afibrinogenemia10.1
13fgb-related congenital afibrinogenemia10.1
14fgg-related congenital afibrinogenemia10.1
15primary pulmonary hypertension10.0FGA
16dilated cardiomyopathy10.0FGA
17systemic lupus erythematosus10.0CR1
18intermittent claudication10.0VWF
19complement factor i deficiency10.0CFI
20varicose veins10.0F2
21cholestasis10.0F2
22age related macular degeneration10.0C3
23nephrotic syndrome10.0CFI, FGA
24carotid artery thrombosis10.0F3
25colorectal cancer10.0CD46
26infertility10.0CD46
27angiodysplasia10.0VWF
28obesity10.0C3
29endocarditis10.0F10
30amyloidosis10.0F10
31endometriosis10.0CD46
32pneumonia10.0CR1, FGA
33coronary thrombosis10.0F3, VWF
34wilms tumor10.0CR1
35thrombophlebitis10.0F8
36respiratory failure10.0F3
37colon cancer10.0CFI, FGA
38essential hypertension10.0VWF, FGA
39arthus reaction10.0CD46
40uremia10.0VWF, CR1
41malaria10.0CFP, CR1
42atypical hemolytic-uremic syndrome10.0CFI, CD46
43sickle cell disease10.0FGA, VWF, CFI
44stomach cancer10.0FGA, CD46
45vitamin k deficiency hemorrhagic disease10.0F3, F2
46acute leukemia10.0CD46, FGA
47sepsis10.0CFI, CFP
48retinal vein occlusion10.0F5
49central retinal vein occlusion10.0F5
50peripheral vascular disease10.0F3, VWF

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Clinical Features for Afibrinogenemia

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46OMIM
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Clinical features from OMIM:

202400

Clinical synopsis from OMIM:

202400

Drugs & Therapeutics for Afibrinogenemia

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

Search CenterWatch for Afibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Afibrinogenemia

Search NIH Clinical Center for Afibrinogenemia

Search CenterWatch for Afibrinogenemia

Genetic Tests for Afibrinogenemia

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22GTR
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Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia22

Anatomical Context for Afibrinogenemia

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32MalaCards
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MalaCards organs/tissues related to Afibrinogenemia:

32
Brain, Tongue

Animal Models for Afibrinogenemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Afibrinogenemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.7F8, F10, CD46, FGA, FGG, C3
2MP:00053977.6F8, F11, FGA, FGG, F3, VWF
3MP:00053857.4C3, F10, F11, FGA, FGG, F3
4MP:00053877.4F8, F11, FGA, FGG, F3, VWF
5MP:00036317.2F11, FGA, F3, VWF, F2, SRSF1
6MP:00053765.9FGA, F11, F10, F5, F8, FGG
7MP:00107685.6FGA, F11, F10, F5, F8, FGG

Publications for Afibrinogenemia

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Genetic Variations for Afibrinogenemia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Afibrinogenemia:

62
id Symbol AA change Variation ID SNP ID
1FGBp.Arg196CysVAR_016908
2FGBp.Leu383ArgVAR_016909
3FGBp.Gly430AspVAR_016910

Expression for genes affiliated with Afibrinogenemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

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Sources:
12EMD Millipore, 53Reactome, 29KEGG, 49PharmGKB, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems
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Pathways related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
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9.8FGG, FGA, FGB
29.8FGB, FGA, FGG
3
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9.7CFP, C3
49.5C3, CFI, FGG
5
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9.5F2, FGG, FGA, FGB
6
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9.5VWF, FGG, FGA, FGB
7
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9.5FGB, FGA, FGG, VWF
8
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9.4F2, F3, F10
9
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9.2FGB, FGA, FGG, VWF, F2
109.2FGB, FGA, FGG, VWF, F2
11
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9.0CD46, CFI, CFP, C3
12
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8.9FGB, FGA, FGG, F3, VWF, F2
13
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8.7CD46, CFP, SRSF1, C3
14
Immune response Lectin induced complement pathway
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8.7CR1, CD46, CFI, CFP, C3
15
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8.1F11, F10, F5, F8
16
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8.0F8, F5, FGB, FGA, FGG, VWF
17
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7.9F5, F2, F3, FGG, FGA, FGB
18
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6.9F8, F5, F10, F11, FGB, FGA
19
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6.6FGG, FGA, FGB, F11, F10, F5
20
Hide members
5.1C3, CFI, F2, VWF, F3, FGG

Compounds for genes affiliated with Afibrinogenemia

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

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.4FGA, VWF
2cardiolipin44 1111.3F10
3coumarins4410.0F10, F3
4hemochron449.9F3, F2, FGA
5desirudin449.3F10, F3, FGA
6tirofiban44 1110.3VWF, F3, F10, F2
7batroxobin449.3F5, FGB, FGA, F2
8hydroxyethyl starch449.3F8, F3, VWF, F2
9ppack449.3F10, FGA, VWF, F2, F3
10tranexamic acid44 1110.3F2, F3, F8, VWF
11Coagulation Factor IX119.1F2, F11, F10, F8
12ancrod449.0F10, F2, F5, FGA
13ecarin449.0F2, F3, F10, F5
14spectrozyme449.0F5, F2, F3, F10
15danaparoid449.0F3, F10, F2, F5
16ximelagatran44 119.9F5, F10, F3, F2
17heparinoids448.9F5, F10, F3, F2
18fondaparinux448.9F3, F5, F10, F2
19protamine sulfate448.9F5, F10, F3, F2
20inogatran448.8F3, F5, F2
21bivalirudin44 119.8F3, F5, FGA, F10, F2
22argatroban44 119.8F5, F10, FGA, F3, F2
23coumarin44 2 49 2411.7F2, F3, FGA, F10, F5
24protamine448.7FGA, F5, F3, F2, F10
25dextran sulfate448.7F11, F10, F5, CFP
26gamma-carboxyglutamic acid448.6F10, F2, F3, F5
27rfviii448.6VWF, F10, F5, F8
28kininogen448.6F5, F11, F3, VWF, F2, CFI
29hind iii448.4F8, CR1, F5, CD46
30cacl2448.4FGA, F3, F10, F5, F8
31kaolin448.4F8, F3, F10, F5, F2
32aprotinin44 119.4VWF, F3, FGA, F11, F10, F5
33dermatan sulfate448.3F3, VWF, F10, F5, F2, F11
34ristocetin448.3F2, F8, F11, F3, VWF, F5
35desmopressin44 59 28 1111.2F2, F8, F5, F11, VWF, F3
36homocysteine44 249.1F8, VWF, F3, F5, F11, F2
37endotoxin448.1F5, F3, FGA, F11, CR1, F8
38acetaminophen44 2 49 11 2412.1VWF, F8, F5, F10, F2
39citrate448.0VWF, F2, F5, F8, F3, F10
40epinephrine44 11 249.9F8, FGA, F3, F2, VWF, F5
41phosphatidylserine44 28 119.9F2, F8, F5, F10, F3, VWF
42aspirin44 49 28 2410.8F10, F3, F2, FGA, F5, VWF
43heparin44 28 11 2410.8F8, CFP, C3, CFI, FGA, F11
44serine447.8SRSF1, CD46, F11, F10, FGA, F8
45creatinine447.6CFI, F2, VWF, F3, C3, F8
46hirudin447.3VWF, F3, FGA, FGB, F11, F10
47lactate447.3F2, VWF, FGA, C3, F8, F10
48polysaccharide447.1CR1, F8, F5, CFP, CD46, C3
49phospholipid446.9F5, C3, F2, VWF, F10, CR1
50fibrinogen446.3F2, F10, CFI, VWF, F3, FGG

GO Terms for genes affiliated with Afibrinogenemia

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16Gene Ontology
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Cellular components related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:07256210.0FGG, FGB
2fibrinogen complexGO:0055779.9FGB, FGA, FGG
3cell cortexGO:0059389.8FGG, FGA, FGB
4platelet alpha granuleGO:0310919.7FGB, FGA, FGG, VWF
5intrinsic to external side of plasma membraneGO:0312339.6F3, F10
6external side of plasma membraneGO:0098979.2FGB, FGA, FGG, VWF
7cell surfaceGO:0099868.8CR1, CD46, FGB, FGA, FGG, F3
8platelet alpha granule lumenGO:0310938.3F8, F5, FGB, FGA, FGG, VWF
9extracellular spaceGO:0056156.6C3, F8, F5, F11, FGB, FGA
10extracellular regionGO:0055766.0F8, F5, F10, F11, FGB, FGA
11plasma membraneGO:0058865.9F8, CR1, F5, F10, F11, CD46

Biological processes related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.9FGB, FGA, FGG
2response to calcium ionGO:0515929.9FGG, FGA, FGB
3blood coagulation, extrinsic pathwayGO:0075989.7F10, F3
4complement activation, alternative pathwayGO:0069579.7C3, CFP
5peptidyl-glutamic acid carboxylationGO:0171879.4F2, F10
6complement activation, classical pathwayGO:0069589.2C3, CFI, CD46, CR1
7regulation of complement activationGO:0304498.9CR1, CD46, CFI, CFP, C3
8proteolysisGO:0065088.7CFI, F2, CD46, F11, F10
9blood coagulation, intrinsic pathwayGO:0075978.6F8, F10, F11, VWF, F2
10innate immune responseGO:0450878.6CR1, CD46, CFI, CFP, C3
11platelet degranulationGO:0025768.3F8, F5, FGB, FGA, FGG, VWF
12platelet activationGO:0301688.0F8, F5, FGB, FGA, FGG, VWF
13blood coagulationGO:0075966.9F2, F8, F5, F10, F11, FGB

Molecular functions related to Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.8FGG, FGA, FGB
2receptor bindingGO:0051029.0C3, F2, FGG, FGA, FGB
3serine-type endopeptidase activityGO:0042528.8F10, F11, F2, CFI

Products for genes affiliated with Afibrinogenemia

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  • Antibodies
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Sources for Afibrinogenemia

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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