Details of Disease | DrugMAP

General Information of Disease (ID: DIS84ZAR)

Disease Name	Congenital fibrinogen deficiency
Synonyms	fibrinogen deficiency, congenital; congenital fibrinogen deficiency
Definition	Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).
Disease Hierarchy	DISEXNCF: Coagulation protein disease DIS27CUA: Bleeding disorder DIS84ZAR: Congenital fibrinogen deficiency
Disease Identifiers	MONDO ID MONDO_0018060 UMLS CUI C2062367 MedGen ID 412157 Orphanet ID 335

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	Definitive	Semidominant	[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	Definitive	Semidominant	[1]
FGB	OT6RKLI9	Definitive	Semidominant	[1]
FGG	OT5BJSEX	Definitive	Semidominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.