Details of Disease

General Information of Disease (ID: DISLW5LN)

• Disease Name: Thrombophilia due to protein S deficiency, autosomal dominant
• Synonyms: THPH5; protein S acquired deficiency; hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant; autosomal dominant hereditary thrombophilia due to congenital protein S deficiency; thrombophilia due to protein S deficiency, autosomal dominant; thrombophilia 5 due to protein S deficiency, autosomal dominant
• Definition: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.|Note that ORDO appears to classify as hereditary and acquired.
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DISP7RXI: Hereditary thrombophilia due to congenital protein S deficiency
  DISLW5LN: Thrombophilia due to protein S deficiency, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0012868
  UMLS CUI: C3278211
  OMIM ID: 612336
  MedGen ID: 479841
  Orphanet ID: 26349

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROS1	OTXQWNOI	Definitive	Semidominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.