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MCID: AFB001
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Afibrinogenemia malady |
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Sources: 17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
Genetics Home Reference: 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.17
MalaCards: Afibrinogenemia, also known as congenital afibrinogenemia, is related to complement factor i deficiency and thrombophilia, dysfibrinogenemic. An important gene associated with Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion_Integrin inside-out signaling and Cell adhesion_Plasmin signaling. The compounds ximelagatran and hemochron have been mentioned in the context of this disorder. Affiliated tissues include brain and tongue, and related mouse phenotypes are hematopoietic system and immune system. NIH Rare Diseases: 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.30 Wikipedia: Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally...44 more... OMIM: 202400 |
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Sources: 7diseasecard, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 202400
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for afibrinogenemia Drug clinical trials:Search ClinicalTrials for afibrinogenemia Search NIH Clinical Center for afibrinogenemia Search CenterWatch for afibrinogenemia |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to afibrinogenemia:22Brain, Tongue
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to afibrinogenemia:25
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Sources: 35PubMed See all sources |
Articles related to afibrinogenemia:(show all 27)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore, 38Reactome, 34PharmGKB, 20KEGG, 36QIAGEN, 37R&D Systems See all sources |
Pathways related to afibrinogenemia according to GeneDecks:(show all 21)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to afibrinogenemia according to GeneDecks:(show top 50) (show all 132)
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Sources: 12Gene Ontology See all sources |
Cellular components related to afibrinogenemia according to GeneDecks:
Biological processes related to afibrinogenemia according to GeneDecks:(show all 13)
Molecular functions related to afibrinogenemia according to GeneDecks:
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