Details of Disease

General Information of Disease (ID: DIS7WFBL)

Disease Name Familial hypofibrinogenemia
Synonyms hypofibrinogenemia, familial
Definition Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
Disease Hierarchy
DISGCW8D: Congenital afibrinogenemia
DIS7WFBL: Familial hypofibrinogenemia
Disease Identifiers
MONDO ID
MONDO_0015096
UMLS CUI
C5681803
MedGen ID
1826143
Orphanet ID
101041

Molecular Interaction Atlas (MIA) of This Disease

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

1 Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion. Blood Cells Mol Dis. 2008 Nov-Dec;41(3):292-7. doi: 10.1016/j.bcmd.2008.06.004. Epub 2008 Aug 3.
2 Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. Hum Mutat. 2007 Jun;28(6):540-53. doi: 10.1002/humu.20483.