KEGG   DISEASE: CLAPO syndromeHelp
Entry
H02297                      Disease                                

Name
CLAPO syndrome
Description
CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02297  CLAPO syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02297  CLAPO syndrome
BRITE hierarchy
Pathway
hsa04150 mTOR signaling pathway   
hsa04151 PI3K-Akt signaling pathway   
Gene
PIK3CA [HSA:5290] [KO:K00922]
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
MeSH: C567763
OMIM: 613089
Reference
  Authors
Lopez-Gutierrez JC, Lapunzina P
  Title
Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.
  Journal
Am J Med Genet A 146A:2583-8 (2008)
DOI:10.1002/ajmg.a.32517
Reference
  Authors
Rodriguez-Laguna L, Ibanez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespin E, Fernandez-Montano VE, Martin-Arenas R, Del Pozo A, Gonzalez-Pecellin H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V
  Title
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
  Journal
Genet Med 20:882-889 (2018)
DOI:10.1038/gim.2017.200

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