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Postaxial polydactyly type A(PAPA)

MedGen UID:
854350
Concept ID:
C3887487
Disease or Syndrome
Synonym: Nonsyndromic Postaxial Polydactyly Type A
SNOMED CT: Postaxial polydactyly type A (715704001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
HPO: HP:0005696
Monarch Initiative: MONDO:0019673
OMIM®: 174200
Orphanet: ORPHA93334

Definition

Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Postaxial polydactyly type A

Conditions with this feature

Heart defect - tongue hamartoma - polysyndactyly syndrome
MedGen UID:
341804
Concept ID:
C1857587
Disease or Syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
Scalp defects-postaxial polydactyly syndrome
MedGen UID:
401140
Concept ID:
C1867021
Disease or Syndrome
A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.
Polydactyly, postaxial, type a10
MedGen UID:
1676955
Concept ID:
C5193129
Disease or Syndrome
Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed (Ullah et al., 2019). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.

Professional guidelines

PubMed

Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A
J Appl Genet 2012 Nov;53(4):415-22. Epub 2012 Aug 18 doi: 10.1007/s13353-012-0109-x. PMID: 22903559Free PMC Article
Witters I, Moerman P, Natens R, Van Assche FA, Fryns JP
Genet Couns 2002;13(2):147-9. PMID: 12150214

Recent clinical studies

Etiology

Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639
Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE
Genes Chromosomes Cancer 2005 Jan;42(1):82-6. doi: 10.1002/gcc.20100. PMID: 15390181
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article

Diagnosis

Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A
J Appl Genet 2012 Nov;53(4):415-22. Epub 2012 Aug 18 doi: 10.1007/s13353-012-0109-x. PMID: 22903559Free PMC Article

Therapy

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
J Bone Miner Res 2019 Feb;34(2):375-386. Epub 2018 Nov 5 doi: 10.1002/jbmr.3594. PMID: 30395363Free PMC Article

Prognosis

Yao Y, Deng S, Zhu F
Genes (Basel) 2022 Jul 11;13(7) doi: 10.3390/genes13071230. PMID: 35886013Free PMC Article
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B
Genomics 2020 Jul;112(4):2729-2733. Epub 2020 Mar 5 doi: 10.1016/j.ygeno.2020.03.006. PMID: 32147526
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE
Am J Hum Genet 1999 Sep;65(3):645-55. doi: 10.1086/302557. PMID: 10441570Free PMC Article

Clinical prediction guides

Yao Y, Deng S, Zhu F
Genes (Basel) 2022 Jul 11;13(7) doi: 10.3390/genes13071230. PMID: 35886013Free PMC Article
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B
Genomics 2020 Jul;112(4):2729-2733. Epub 2020 Mar 5 doi: 10.1016/j.ygeno.2020.03.006. PMID: 32147526
Naruse I, Ueta E, Sumino Y, Ogawa M, Ishikiriyama S
Congenit Anom (Kyoto) 2010 Mar;50(1):1-7. doi: 10.1111/j.1741-4520.2009.00266.x. PMID: 20201963
Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P
Eur J Hum Genet 2003 May;11(5):409-15. doi: 10.1038/sj.ejhg.5200982. PMID: 12734547
Zhao H, Tian Y, Breedveld G, Huang S, Zou Y, Y J, Chai J, Li H, Li M, Oostra BA, Lo WH, Heutink P
Eur J Hum Genet 2002 Mar;10(3):162-6. doi: 10.1038/sj.ejhg.5200790. PMID: 11973619

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