Details of Disease | DrugMAP

General Information of Disease (ID: DISCF3MJ)

Disease Name	Congenital factor XI deficiency
Synonyms	factor XI deficiency; factor 11 deficiency; F11 deficiency; hereditary factor XI deficiency disease; Rosenthal syndrome; factor XI deficiency, autosomal recessive; hereditary Factor XI deficiency; factor XI deficiency, autosomal dominant; haemophilia C; Rosenthal's disease; Rosenthal factor deficiency; congenital factor XI deficiency; hemophilia C; plasma thromboplastin antecedent deficiency; PTA deficiency; hereditary factor XI deficiency
Definition	Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISNSX3G: Autosomal genetic disease DISXP3C8: Factor XI deficiency DISCF3MJ: Congenital factor XI deficiency
Disease Identifiers	MONDO ID MONDO_0012897 MESH ID D005173 UMLS CUI C0015523 OMIM ID 612416 MedGen ID 8770 Orphanet ID 329 SNOMED CT ID 49762007

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
F11	TTDM4ZU	Strong	Biomarker	[1]
F11	TTDM4ZU	Definitive	Semidominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F11	OT93MUNH	Definitive	Semidominant	[2]
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References

1	Tissue Factor-Negative Cell-Derived Microparticles Play a Distinctive Role in Hemostasis: A Viewpoint Review.Semin Thromb Hemost. 2019 Jul;45(5):509-513. doi: 10.1055/s-0039-1688570. Epub 2019 Jun 13.
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.