C177122Level 7
CLOVES Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A disorder caused by mutation(s) in the PIK3CA gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform. It is characterized by mixed capillary, lymphatic, venous, and arteriovenous vascular malformations, segmental progressive overgrowth of subcutaneous, muscular, and visceral fibroadipose tissue with skeletal overgrowth.
**Synonyms:** - Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome
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