KEGG   DISEASE: Macrodactyly
Entry
H02647                      Disease                                
Name
Macrodactyly
Description
Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB97  Limb overgrowth
     H02647  Macrodactyly
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06530  PI3K signaling
   H02647  Macrodactyly
Pathway
hsa04151  PI3K-Akt signaling pathway
Network
nt06530 PI3K signaling
Gene
PIK3CA [HSA:5290] [KO:K00922]
Other DBs
ICD-11: LB97
MeSH: C562546
OMIM: 155500
Reference
PMID:23100325
  Authors
Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M
  Title
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
  Journal
Hum Mol Genet 22:444-51 (2013)
DOI:10.1093/hmg/dds440
Reference
PMID:36175329
  Authors
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ
  Title
Congenital difference of the hand and foot: Pediatric macrodactyly.
  Journal
J Plast Reconstr Aesthet Surg 75:4054-4062 (2022)
DOI:10.1016/j.bjps.2022.06.059

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Disease (1)   
   OMIM (1)   
All databases (1)   

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