factor VIII deficiency

Summary
Synonym
  • Congenital factor VIII disorder
  • Hemophilia A
  • Subhemophilia
  • classic hemophilia A
Definition
A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
Super Class
X-linked recessive disease blood coagulation disease
External Links
Disease Ontology
DOID:12134
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
2523 FUT1 fucosyltransferase 1 (H blood group)
2539 G6PD glucose-6-phosphate dehydrogenase
2990 GUSB glucuronidase beta
3998 LMAN1 lectin, mannose binding 1
4360 MRC1 mannose receptor C-type 1
5621 PRNP prion protein (Kanno blood group)
60495 HPSE2 heparanase 2 (inactive)
90411 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024