KEGG   DISEASE: Postaxial polydactyly
Entry
H01852                      Disease                                

Name
Postaxial polydactyly
Description
Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on the ulnar/fibular side of hands/feet. A small projection of tissue or scar mark just below the proximal interphalangeal crease can also be the only clinical finding. PAP is clinically classified into type A (PAPA) with fully developed extra digit and type B (PAPB) with incompletely developed digit. PAPA is a genetically heterogeneous disorder and exhibits as either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may considered as a variant of PAPA1 in genetics.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01852  Postaxial 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
     H01852  Postaxial polydactyly
Gene
(PAPA1,PAPB) GLI3 [HSA:2737] [KO:K06230]
(PAPA6) ZNF141 [HSA:7700] [KO:K09228]
(PAPA7) IQCE [HSA:23288] [KO:K24677]
(PAPA8) GLI1 [HSA:2735] [KO:K16797]
(PAPA9) FAM92A [HSA:137392] [KO:K23868]
(PAPA10) KIAA0825 [HSA:285600] [KO:K24554]
Comment
See also H01226 GLI3 morphopathies.
Other DBs
ICD-11: LB78.2 LB78.3
ICD-10: Q69.0 Q69.2
MeSH: C562429
OMIM: 174200 615226
Reference
  Authors
Umm-e-Kalsoom, Basit S, Kamran-ul-Hassan Naqvi S, Ansar M, Ahmad W
  Title
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.
  Journal
Hum Genet 131:415-22 (2012)
DOI:10.1007/s00439-011-1085-7
Reference
  Authors
Deng H, Tan T, Yuan L
  Title
Advances in the molecular genetics of non-syndromic polydactyly.
  Journal
Expert Rev Mol Med 17:e18 (2015)
DOI:10.1017/erm.2015.18
Reference
  Authors
Verma PK, El-Harouni AA
  Title
Review of literature: genes related to postaxial polydactyly.
  Journal
Front Pediatr 3:8 (2015)
DOI:10.3389/fped.2015.00008
Reference
PMID:9042919
  Authors
Radhakrishna U, Blouin JL, Mehenni H, Patel UC, Patel MN, Solanki JV, Antonarakis SE
  Title
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.
  Journal
Am J Hum Genet 60:597-604 (1997)
Reference
  Authors
Furniss D, Critchley P, Giele H, Wilkie AO
  Title
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
  Journal
Am J Med Genet A 143A:3150-60 (2007)
DOI:10.1002/ajmg.a.32097
Reference
  Authors
Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W
  Title
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
  Journal
J Med Genet 50:47-53 (2013)
DOI:10.1136/jmedgenet-2012-101219
Reference
  Authors
Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W
  Title
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
  Journal
Eur J Hum Genet 25:960-965 (2017)
DOI:10.1038/ejhg.2017.83
Reference
  Authors
Palencia-Campos A, Ullah A, Nevado J, Yildirim R, Unal E, Ciorraga M, Barruz P, Chico L, Piceci-Sparascio F, Guida V, De Luca A, Kayserili H, Ullah I, Burmeister M, Lapunzina P, Ahmad W, Morales AV, Ruiz-Perez VL
  Title
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
  Journal
Hum Mol Genet 26:4556-4571 (2017)
DOI:10.1093/hmg/ddx335
Reference
  Authors
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
  Title
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
  Journal
J Bone Miner Res 34:375-386 (2019)
DOI:10.1002/jbmr.3594
Reference
  Authors
Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM
  Title
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
  Journal
Hum Genet 138:593-600 (2019)
DOI:10.1007/s00439-019-02000-0
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