Details of Disease

General Information of Disease (ID: DISLIC19)

Disease Name Thrombophilia, X-linked, due to factor 9 defect
Synonyms
THPH8; deep Venous thrombosis, protection against; thrombophilia, X-linked, due to factor IX defect; thrombophilia, X-linked, due to factor 9 defect; deep venous thrombosis, protection against, X-linked recessive; thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive
Definition A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).
Disease Hierarchy
DISFG8KS: Inherited thrombophilia
DISLIC19: Thrombophilia, X-linked, due to factor 9 defect
Disease Identifiers
MONDO ID
MONDO_0010432
MESH ID
C567581
UMLS CUI
C2749016
OMIM ID
300807
MedGen ID
411730

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
F9 TTFEZ5Q Limited X-linked [1]
F9 TTFEZ5Q Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F9 OTT0CX3Q Limited X-linked [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.
2 The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.J Thromb Haemost. 2018 Oct;16(10):2035-2043. doi: 10.1111/jth.14236. Epub 2018 Aug 9.