KEGG   DISEASE: Preaxial polydactyly
Entry
H02332                      Disease                                

Name
Preaxial polydactyly
  Subgroup
Polysyndactyly [DS:H01226]
Description
Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in preaxial polydactyly.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02332  Preaxial polydactyly
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
     H02332  Preaxial polydactyly
Related
pathway
hsa04340  Hedgehog signaling pathway
hsa04024  cAMP signaling pathway
Gene
(PPD1) GLI1 [HSA:2735] [KO:K16797]
(PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217]
(PPD4) GLI3 [HSA:2737] [KO:K06230]
Comment
ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.
Other DBs
ICD-11: LB78.2 LB78.3
ICD-10: Q69.0
MeSH: D017689
OMIM: 174400 174500 174700
Reference
  Authors
Ullah A, Umair M, Majeed AI, Abdullah, Jan A, Ahmad W
  Title
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.
  Journal
Clin Genet 95:540-541 (2019)
DOI:10.1111/cge.13495
Reference
  Authors
VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N
  Title
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
  Journal
Hum Mutat 35:945-8 (2014)
DOI:10.1002/humu.22581
Reference
  Authors
Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M
  Title
Clinical Genetics of Polydactyly: An Updated Review.
  Journal
Front Genet 9:447 (2018)
DOI:10.3389/fgene.2018.00447
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