KEGG   DISEASE: Megalencephaly-capillary malformation syndromeHelp
Entry
H02153                      Disease                                

Name
Megalencephaly-capillary malformation syndrome;
MCAP syndrome
Description
Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia. Mutations in PIK3CA have been reported in MCAP patients.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02153  Megalencephaly-capillary malformation syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02153  Megalencephaly-capillary malformation syndrome
BRITE hierarchy
Pathway
hsa04150 mTOR signaling pathway   
Gene
PIK3CA [HSA:5290] [KO:K00922]
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
MeSH: C536142
OMIM: 602501
Reference
  Authors
Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB
  Title
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
  Journal
Am J Med Genet A 158A:269-91 (2012)
DOI:10.1002/ajmg.a.34402
Reference
  Authors
Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB
  Title
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
  Journal
Nat Genet 44:934-40 (2012)
DOI:10.1038/ng.2331

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