Details of Disease

General Information of Disease (ID: DISFYEEB)

Disease Name Mild hemophilia A
Synonyms mild factor VIII deficiency; mild haemophilia type A; mild hemophilia type A
Definition Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Disease Hierarchy
DIS0RQ2E: Haemophilia A
DISFYEEB: Mild hemophilia A
Disease Identifiers
MONDO ID
MONDO_0015721
UMLS CUI
C0272324
MedGen ID
543975
Orphanet ID
169808
SNOMED CT ID
26029002

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]
F11 TTDM4ZU Strong Biomarker [2]
VWF TT3SZBT Strong Genetic Variation [3]
F8 TT1290U Definitive Biomarker [4]
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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]
AK3 OTM59ZGG moderate Biomarker [4]
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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 Clinical relevance of isolated prolongation of the activated partial thromboplastin time in a cohort of adults undergoing surgical procedures.Blood Transfus. 2017 Oct;15(6):557-561. doi: 10.2450/2016.0047-16. Epub 2016 Jul 22.
3 Haemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease.Blood Coagul Fibrinolysis. 2017 Apr;28(3):230-233. doi: 10.1097/MBC.0000000000000583.
4 Can we compare haemophilia carriers with clotting factor deficiency to male patients with mild haemophilia?.Haemophilia. 2020 Jan;26(1):117-121. doi: 10.1111/hae.13891. Epub 2019 Dec 9.