Details of Disease

General Information of Disease (ID: DISLLGU6)

Disease Name Thrombomodulin-related bleeding disorder
Synonyms thrombophilia due to thrombomodulin defect; THPH12; THBD-related coagulopathy; THBD-related bleeding disorder; thrombomodulin-related coagulopathy; thrombophilia 12 due to thrombomodulin defect
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DIS27CUA: Bleeding disorder
DISFG8KS: Inherited thrombophilia
DISLLGU6: Thrombomodulin-related bleeding disorder
Disease Identifiers
MONDO ID
MONDO_0013775
MESH ID
C566057
UMLS CUI
C3280976
OMIM ID
614486
MedGen ID
482606
Orphanet ID
436169
SNOMED CT ID
1197595004

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
THBD TTAPV67 moderate Biomarker [1]
THBD TTAPV67 Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
THBD OT8VHLKY Strong Autosomal dominant [2]
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References

1 Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation.Blood. 2015 Feb 26;125(9):1497-501. doi: 10.1182/blood-2014-10-604553. Epub 2015 Jan 6.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.