Details of Disease

General Information of Disease (ID: DISGCW8D)

Disease Name Congenital afibrinogenemia
Synonyms afibrinogenemia congenital; afibrinogenemia; afibrinogenemia, congenital; familial afibrinogenemia; hypofibrinogenemia, congenital; factor I deficiency; fibrinogen deficiency
Definition Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
Disease Hierarchy
DISEOPCW: Familial dysfibrinogenemia
DISGCW8D: Congenital afibrinogenemia
Disease Identifiers
MONDO ID
MONDO_0008737
MESH ID
D000347
UMLS CUI
C2584774
OMIM ID
202400
MedGen ID
749036
Orphanet ID
98880
SNOMED CT ID
154818001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCB11 TTUXCAF Strong Biomarker [1]
FGG TTR31L7 Strong Autosomal recessive [2]
FGG TTR31L7 Strong Biomarker [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGB OT6RKLI9 Strong Autosomal recessive [2]
FGG OT5BJSEX Strong Autosomal recessive [2]
FGA OTMIHY80 Definitive Autosomal recessive [4]
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References

1 BSEP inhibition: in vitro screens to assess cholestatic potential of drugs.Toxicol In Vitro. 2012 Dec;26(8):1294-9. doi: 10.1016/j.tiv.2011.11.002. Epub 2011 Nov 18.
2 Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013 Sep;39(6):585-95. doi: 10.1055/s-0033-1349222. Epub 2013 Jul 12.
3 Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.Res Pract Thromb Haemost. 2018 Jul 2;2(4):800-811. doi: 10.1002/rth2.12127. eCollection 2018 Oct.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.