Details of Disease | DrugMAP

General Information of Disease (ID: DISV48JY)

Disease Name	Congenital prothrombin deficiency
Synonyms	congenital factor II deficiency; prothrombin deficiency, congenital; hypoprothrombinemia; factor II deficiency; prothrombin deficiency; factor 2 deficiency; Dysprothrombinemia; hereditary prothrombin deficiency; congenital prothrombin deficiency
Definition	Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISFK09W: Thrombin deficiency DIS9VV3W: Congenital vitamin K-dependent coagulation factors deficiency DISV48JY: Congenital prothrombin deficiency
Disease Identifiers	MONDO ID MONDO_0013361 MESH ID C562724 UMLS CUI C0272317 OMIM ID 613679 MedGen ID 124425 Orphanet ID 325 SNOMED CT ID 33297000

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
F2	TT6L509	Strong	Genetic Variation	[1]
F2	TT6L509	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F2	OTNFSM49	Definitive	Autosomal recessive	[2]
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References

1	A novel congenital dysprothrombinemia leading to defective prothrombin maturation. Thromb Res. 2014 Nov;134(5):1135-41. doi: 10.1016/j.thromres.2014.08.028. Epub 2014 Sep 8.
2	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.