KEGG   DISEASE: PolysyndactylyHelp
Entry
H01226                      Disease                                

Name
Polysyndactyly;
Preaxial polydactyly type IV
Description
Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated thumbs, and syndactyly of the third and fourth fingers. GLI3 is regarded as a mediator of sonic hedgehog signaling regulating development at multiple sites such as the limbs, the lungs, and the brain.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01226  Polysyndactyly
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
    LB78  Polydactyly
     H01226  Polysyndactyly
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
GLI3 [HSA:2737] [KO:K06230]
Other DBs
ICD-11: LB78.1
ICD-10: Q70.4
MeSH: C536333
OMIM: 174700
Reference
  Authors
Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y
  Title
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
  Journal
Clin Genet 67:429-33 (2005)
DOI:10.1111/j.1399-0004.2005.00431.x
Reference
  Authors
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE
  Title
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
  Journal
Am J Hum Genet 65:645-55 (1999)
DOI:10.1086/302557
Reference
  Authors
Paparidis Z, Abbasi AA, Malik S, Goode DK, Callaway H, Elgar G, deGraaff E, Lopez-Rios J, Zeller R, Grzeschik KH
  Title
Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression.
  Journal
Dev Growth Differ 49:543-53 (2007)
DOI:10.1111/j.1440-169X.2007.00954.x

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