Details of Disease

General Information of Disease (ID: DISRMIVY)

• Disease Name: Hereditary thrombophilia due to congenital protein C deficiency
• Synonyms: severe hereditary thrombophilia due to congenital protein C deficiency; autosomal recessive thrombophilia due to PC deficiency; protein C deficiency; hereditary thrombophilia due to congenital protein C deficiency; autosomal recessive thrombophilia due to congenital protein C deficiency; Protein C deficiency; Protein C deficiency disease; Protein C Deficiency; hereditary thrombophilia due to PC deficiency
• Definition: Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
• Disease Hierarchy:
  DISFG8KS: Inherited thrombophilia
  DISRMIVY: Hereditary thrombophilia due to congenital protein C deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0019145
  UMLS CUI: C0598221
  MedGen ID: 671121
  Orphanet ID: 745
  SNOMED CT ID: 439274008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PROC	TTZUXYS	Definitive	Semidominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROC	OTGVH484	Definitive	Semidominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.