Details of Disease | DrugMAP

General Information of Disease (ID: DISTANVC)

Disease Name	Congenital factor VII deficiency
Synonyms	factor VII deficiency; factor 7 deficiency; F7 deficiency; congenital proconvertin deficiency; hypoproconvertinemia; congenital factor VII deficiency
Definition	Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.
Disease Hierarchy	DISKZWAG: Factor VII deficiency DIS9VV3W: Congenital vitamin K-dependent coagulation factors deficiency DISTANVC: Congenital factor VII deficiency
Disease Identifiers	MONDO ID MONDO_0009211 UMLS CUI C0272320 MedGen ID 473015 Orphanet ID 327 SNOMED CT ID 40855001

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
F7	TTF0EGX	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F7	OTGNJ97M	Definitive	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.