Details of Disease

General Information of Disease (ID: DISP3Z8W)

• Disease Name: Heparin cofactor 2 deficiency
• Synonyms: Hcf2 deficiency; heparin cofactor II deficiency; thrombophilia due to heparin cofactor 2 deficiency; Hcf 2 deficiency; heparin cofactor 2 deficiency; thrombophilia 10 due to heparin cofactor II deficiency
• Disease Hierarchy:
  DISFG8KS: Inherited thrombophilia
  DISP3Z8W: Heparin cofactor 2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012876
  MESH ID: C562865
  UMLS CUI: C0398626
  OMIM ID: 612356
  MedGen ID: 96017
  SNOMED CT ID: 234468009

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
SERPIND1	TT8XSKJ	Strong	Genetic Variation	[1]
SERPIND1	TT8XSKJ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRODH	DEVJIHS	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPIND1	OT40Y9CN	Definitive	Autosomal dominant	[2]

References

• [1] Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis. Circulation. 2004 Sep 7;110(10):1303-7. doi: 10.1161/01.CIR.0000140763.51679.D9. Epub 2004 Aug 30.
• [2] 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.
• [3] Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.J Inherit Metab Dis. 1996;19(3):275-7. doi: 10.1007/BF01799254.