Details of Disease

General Information of Disease (ID: DISYWFU6)

• Disease Name: Thrombophilia due to protein C deficiency, autosomal recessive
• Synonyms: autosomal recessive hereditary thrombophilia due to protein C deficiency; Protein C deficiency, autosomal recessive; autosomal recessive protein C deficiency; THPH4; hereditary thrombophilia due to congenital protein C deficiency; thrombophilia due to PROTEIN C deficiency, autosomal recessive; hereditary thrombophilia due to PC deficiency; Proc deficiency, autosomal recessive; thrombophilia 3 due to protein C deficiency, autosomal recessive; thrombophilia due to protein C deficiency, autosomal recessive
• Disease Hierarchy:
  DISRMIVY: Hereditary thrombophilia due to congenital protein C deficiency
  DISYWFU6: Thrombophilia due to protein C deficiency, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0012860
  MESH ID: C567353
  UMLS CUI: C2676759
  OMIM ID: 612304
  MedGen ID: 394120

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PROC	TTZUXYS	Strong	Autosomal recessive	[1]
PROC	TTZUXYS	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

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

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] Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.Thromb Res. 2015 Apr;135(4):718-26. doi: 10.1016/j.thromres.2015.01.011. Epub 2015 Jan 15.