MeSH Browser

MeSH Supplementary: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Unique ID: C567863
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C567863
Entry Term(s): Clove Syndrome; Cloves Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities
Registry Number: 0
Heading Mapped to: *Lipoma; *Musculoskeletal Abnormalities; *Nevus; *Vascular Malformations
Frequency: 43
Note: A congenital syndrome characterized by prenatal overgrowth, hemihypertrophy and facial asymmetry, multiple vascular malformations, splenic cysts, skeletal abnormalities, and epidermal nevi. It is caused by somatic mosaic mutations in the PHOSPHOINOSITIDE 3-HYDROXYKINASE alpha peptide (PIK3CA) gene. OMIM: 612918
Date of Entry: 2012/11/05
Revision Date: 2016/09/29

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi MeSH Supplementary Concept Data 2024