Details of Disease

General Information of Disease (ID: DISKZWAG)

Disease Name	Factor VII deficiency
Synonyms	factor VII deficiency; factor 7 deficiency; deficiency, stable; F7 deficiency
Disease Class	3B14: Inherited coagulation factor deficiency
Definition	A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.
Disease Hierarchy	DISEXNCF: Coagulation protein disease DIS27CUA: Bleeding disorder DISKZWAG: Factor VII deficiency
ICD Code	ICD-11 ICD-11: 3B14 ICD-10 ICD-10: D68.2 Expand ICD-11 '3B14.Z
Disease Identifiers	MONDO ID MONDO_0002244 MESH ID D005168 UMLS CUI C0015503 OMIM ID 227500 MedGen ID 8769 SNOMED CT ID 37193007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Recombinant factor VIIa PEGylated liposomal	DMY3TAD	Phase 1/2	NA	[1]
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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
OAT	TTTSCQ2	Strong	Biomarker	[2]
F7	TTF0EGX	Definitive	Autosomal recessive	[3]
F7	TTF0EGX	Definitive	Genetic Variation	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGB	OT6RKLI9	Strong	Genetic Variation	[5]
F7	OTGNJ97M	Definitive	Autosomal recessive	[3]
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References

1	Safety, pharmacokinetics and efficacy of factor VIIa formulated with PEGylated liposomes in haemophilia A patients with inhibitors to factor VIII--an open label, exploratory, cross-over, phase I/II study. Haemophilia. 2010 Nov;16(6):910-8.
2	Factor VIIa-antithrombin complexes in patients with arterial and venous thrombosis.Thromb Haemost. 2010 Jun;103(6):1188-92. doi: 10.1160/TH09-08-0606. Epub 2010 Apr 29.
3	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.
4	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
5	Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes.Blood Coagul Fibrinolysis. 2012 Jul;23(5):355-8. doi: 10.1097/MBC.0b013e32834fa81e.