Details of Disease

General Information of Disease (ID: DISEOPCW)

Disease Name Familial dysfibrinogenemia
Synonyms dysfibrinogenemia, familial; dysfibrinogenemia, congenital; congenital dysfibrinogenemia; hypodysfibrinogenemia, congenital; familial dysfibrinogenemia; hypodysfibrinogenemia; dysfibrinogenemia
Definition Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
Disease Hierarchy
DIS84ZAR: Congenital fibrinogen deficiency
DISEOPCW: Familial dysfibrinogenemia
Disease Identifiers
MONDO ID
MONDO_0014452
MESH ID
C562727
UMLS CUI
C0272350
OMIM ID
616004
MedGen ID
82901
Orphanet ID
98881
SNOMED CT ID
45366001

Molecular Interaction Atlas (MIA) of This Disease

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

1 A new heterozygous mutation in gamma fibrinogen gene leading to 326 Cys-->Ser substitution in fibrinogen Crdoba is associated with defective polymerization and familial hypodysfibrinogenemia. J Thromb Haemost. 2004 Feb;2(2):352-4. doi: 10.1111/j.1538-7836.2004.0584d.x.
2 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.
3 Natural history of patients with congenital dysfibrinogenemia. Blood. 2015 Jan 15;125(3):553-61. doi: 10.1182/blood-2014-06-582866. Epub 2014 Oct 15.
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.