KEGG DISEASE: Postaxial polydactyly

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 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 be considered as a variant of PAPA1 in genetics.

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
    LB78  Polydactyly
     H01852  Postaxial polydactyly
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H01852  Postaxial polydactyly

Pathway

Hedgehog signaling pathway

Network

nt06501 HH signaling

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:

ICD-10:

MeSH:

OMIM:

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:18000979 (PAPA1,PAPB)

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

PMID:23160277 (PAPA6)

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

PMID:28488682 (PAPA7)

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

PMID:28973407 (PAPA8)

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

PMID:30395363 (PAPA9)

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

PMID:30982135 (PAPA10)

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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