Details of Disease

General Information of Disease (ID: DIS1DL2M)

Disease Name Inherited blood coagulation disorder
Synonyms
inherited blood coagulation disease; coagulation disorders, hereditary; hereditary blood coagulation disease; hereditary blood coagulation disorders; hereditary coagulation disorders; inherited coagulation disorders; inherited coagulation disorder; rare genetic coagulation disorder; coagulation disorder, inherited; coagulation disorder, hereditary; hereditary coagulation disorder; inherited blood coagulation disorders; coagulation disorders, inherited
Definition Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9X3H6: Coagulation defect
DIS1DL2M: Inherited blood coagulation disorder
Disease Identifiers
MONDO ID
MONDO_0021181
MESH ID
D025861
UMLS CUI
C0852077
MedGen ID
163105
Orphanet ID
183654

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F10 TTCIHJA Definitive Biomarker [1]
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References

1 A recurrent Gly43Asp substitution in coagulation Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellular trafficking.Thromb Res. 2014 Mar;133(3):481-7. doi: 10.1016/j.thromres.2013.12.020. Epub 2013 Dec 21.