Details of Disease

General Information of Disease (ID: DISHPA3U)

• Disease Name: CLOVES syndrome
• Synonyms: CLOVE syndrome; congenital lipomatous overgrowth - vascular malformation - epidermal nevi; congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities; congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi; CLOVES syndrome; congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVE syndrome, somatic
• Definition: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.
• Disease Hierarchy:
  DISYS32D: Melanocytic nevus
  DIS6SVEE: Syndromic disease
  DIS5HJ01: Subcutaneous tissue disorder
  DISSCALK: Hereditary skin disorder
  DISHPA3U: CLOVES syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013038
  MESH ID: C567863
  UMLS CUI: C2752042
  OMIM ID: 612918
  MedGen ID: 442876
  Orphanet ID: 140944
  SNOMED CT ID: 719475006

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
PIK3CA	TTEUNMR	Definitive	Somatic mosaicism	[1]
PIK3CA	TTEUNMR	Definitive	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3CA	OTTOMI8J	Definitive	Somatic mosaicism	[1]

References

• [1] Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012 Jun 8;90(6):1108-15. doi: 10.1016/j.ajhg.2012.05.006. Epub 2012 May 31.
• [2] Nodular Proliferation in Parkes Weber Syndrome.Ann Vasc Surg. 2017 Jan;38:321.e1-321.e4. doi: 10.1016/j.avsg.2016.06.015. Epub 2016 Aug 26.