OMIA:000348-9823 : Epitheliogenesis imperfecta in Sus scrofa (pig)

In other species: domestic cat , taurine cattle , sheep , water buffalo

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 107600 (trait) , 600360 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Congenital absence of the skin.

Species-specific name: Aplasia cutis congenita

Species-specific description: Affected piglets usually die within three days, but some survive to adulthood. The chance of survival is indirectly proportional to the area of skin that is absent.

Mapping: Zhou et al. (2023) "identified nine significant SNPs associated with ACC [aplasia cutis congenita]. Further analysis revealed the presence of two quantitative trait loci, 483 kb (5:18,196,971–18,680,098) on SSC 5 and 159 kb (13:20,713,440–207294431 bp) on SSC13. By annotating candidate genes within a 1 Mb region surrounding the significant SNPs, a total of 11 candidate genes were identified on SSC5 and SSC13, including KRT71, KRT1, KRT4, ITGB7, CSAD, RARG, SP7, PFKL, TRPM2, SUMO3, and TSPEAR."

Breed: Duroc (Pig) (VBO_0001127).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000348-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., Cai, G., Wu, Z., Zhang, Z. :
Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs. BMC Genomics 24:701, 2023. Pubmed reference: 37990155. DOI: 10.1186/s12864-023-09803-6.
2006 Benoit-Biancamano, MO., Drolet, R., D'Allaire, S. :
Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd. J Vet Diagn Invest 18:573-9, 2006. Pubmed reference: 17121085.
2004 Verhelle, N.A., Heymans, O., Deleuze, J.P., Fabre, G., Vranckx, J.J., Van den hof, B. :
Abdominal aplasia cutis congenita: case report and review of the literature. J Pediatr Surg 39:237-9, 2004. Pubmed reference: 14966752. DOI: 10.1016/j.jpedsurg.2003.10.021.
1982 Ollivier, L., Sellier, P. :
Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.
1955 Sailer, J. :
Imperfect epithelium formation - a hereditary defect in pigs Tierarztliche Umschau 10:215-216, 1955.
1951 Bentinck-Smith, J. :
A congenital epithelial defect in a herd of Berkshire swine Cornell Veterinarian 41:47-51, 1951. Pubmed reference: 14812841.
1929 Nordby, J.E. :
Congenital skin, ear, and skull defects in a pig Anatomical Record 42:267-280, 1929.

Edit History

  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Imke Tammen2 on 23 Nov 2023