Details of Disease

General Information of Disease (ID: DISWXNMO)

Disease Name Moderately severe hemophilia A
Synonyms moderately severe haemophilia type A; moderately severe hemophilia type A; moderately severe factor VIII deficiency
Definition Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Disease Hierarchy
DIS0RQ2E: Haemophilia A
DISWXNMO: Moderately severe hemophilia A
Disease Identifiers
MONDO ID
MONDO_0015720
UMLS CUI
C0272323
MedGen ID
543974
Orphanet ID
169805
SNOMED CT ID
33344008

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
F8 TT1290U Supportive X-linked [1]
F8 TT1290U moderate Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F8 OTH6XHDU Supportive X-linked [1]
COX8A OTU0NR39 moderate Biomarker [3]
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References

1 Hemophilia A. 2000 Sep 21 [updated 2023 Jul 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.Acta Haematol. 2009;121(2-3):102-5. doi: 10.1159/000214849. Epub 2009 Jun 8.
3 Bayesian pharmacokinetic-guided prophylaxis with recombinant factor VIII in severe or moderate haemophilia A.Thromb Res. 2019 Feb;174:151-162. doi: 10.1016/j.thromres.2018.12.027. Epub 2019 Jan 3.