Details of Disease

General Information of Disease (ID: DISXUFDW)

Disease Name Severe hemophilia A
Synonyms severe factor VIII deficiency; severe haemophilia type A; severe hemophilia type A
Definition
Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Disease Hierarchy
DIS0RQ2E: Haemophilia A
DISXUFDW: Severe hemophilia A
Disease Identifiers
MONDO ID
MONDO_0015719
UMLS CUI
C0272322
MedGen ID
543973
Orphanet ID
169802
SNOMED CT ID
16872008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F8 TT1290U Supportive X-linked [1]
EIF2AK1 TTRUJBV Strong Genetic Variation [2]
F9 TTFEZ5Q Strong Biomarker [3]
LCT TTA0OSE Strong Genetic Variation [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F8 OTH6XHDU Supportive X-linked [1]
AK3 OTM59ZGG Strong Biomarker [3]
BRCC3 OTK0ZN7Y Strong Genetic Variation [5]
F8A1 OTXTQ59R Strong Genetic Variation [6]
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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 Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study.Thromb Res. 2014 Apr;133(4):544-9. doi: 10.1016/j.thromres.2014.01.005. Epub 2014 Jan 17.
3 New therapies using nonfactor products for patients with hemophilia and inhibitors.Blood. 2019 Jan 31;133(5):399-406. doi: 10.1182/blood-2018-07-820712. Epub 2018 Dec 17.
4 Investigating the influence of LCT rs3754689 polymorphism on inhibitor development in Iranian and Afghan patients with severe hemophilia A.Blood Coagul Fibrinolysis. 2020 Jan;31(1):11-15. doi: 10.1097/MBC.0000000000000860.
5 Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation.Eur J Med Genet. 2016 Jan;59(1):43-7. doi: 10.1016/j.ejmg.2015.12.004. Epub 2015 Dec 10.
6 Inversion mutation as a major cause of severe hemophilia A in Italian patients.Haematologica. 1997 Jan-Feb;82(1):75-6.