Details of Disease | DrugMAP

General Information of Disease (ID: DISYKRX3)

Disease Name	Thrombophilia due to protein C deficiency, autosomal dominant
Synonyms	Proc deficiency, autosomal dominant; thrombophilia due to PROTEIN C deficiency, autosomal dominant; Protein C deficiency, autosomal dominant; THPH3; Protein C deficiency, acquired; thrombophilia 3 due to protein C deficiency, autosomal dominant; thrombophilia due to protein C deficiency, autosomal dominant
Disease Hierarchy	DISRMIVY: Hereditary thrombophilia due to congenital protein C deficiency DISYKRX3: Thrombophilia due to protein C deficiency, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0008316 MESH ID C567163 UMLS CUI C2674321 OMIM ID 176860 MedGen ID 436138

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
PROC	TTZUXYS	Strong	Autosomal dominant	[1]
PROC	TTZUXYS	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROC	OTGVH484	Strong	Autosomal dominant	[1]
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References

1	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.
2	The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26404. Epub 2017 Jan 23.