OMIA:000564-9796 : Difference of sexual development, generic in Equus caballus (horse)

In other species: chicken , tammar wallaby , gray wolf , dog , domestic cat , pig , llama , Western roe deer , taurine cattle , goat , sheep , gray short-tailed opossum , argali , raccoon dog , bighorn sheep , mule

Categories: Reproductive system phene

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This phene includes information relating to differences of sexual development (DSD) in animals of unknown karyotype and for which causal variants have so far not been identified. References relating to reviews or reports of multiple different types of DSD are also included. See other information relating to DSD in 'OMIA:002776 : Sex chromosome difference of sexual development, generic; OMIA:000901 : XX difference of sexual development; OMIA:001601 : XY difference of sexual development, generic' as well as specific gene-related entries or by searching for DSD. Renamed from 'Intersex' and merged with 'OMIA:000900 Sex reversal generic' [29/09/2023]

Markers: Ghosh et al. (2020) "characterized a homozygous ~200 kb deletion in ECA29 as a risk factor for equine DSDs and reproductive disorders. These conclusions were based on the following notions: i) the deletion eliminates functionally relevant AKR1C genes, which have been associated with DSDs in humans; ii) the frequency of the deletion was higher in abnormal horses (8–9%) compared to normal population (1–5%), and iii) the majority (79%) of horses with the homozygous deletion were phenotypically abnormal. Even though denoted as a risk factor because of difficulties to establish statistically sound causative genotype–phenotype relationship, the findings add to the currently very short list of genomic regions underlying equine disorders of sex development and reproduction". Given the obvious and well-informed caution of the authors, this variant has not been tabulated as a likely causal variant.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000564-9796: 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.

2021 Pirosanto, Y., Laseca, N., Valera, M., Molina, A., Moreno-Millán, M., Bugno-Poniewierska, M., Ross, P., Azor, P., Demyda-Peyrás, S. :
Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data. Anim Genet 52:431-439, 2021. Pubmed reference: 34013628. DOI: 10.1111/age.13077.
2020 Ghosh, S., Davis, B.W., Rosengren, M., Jevit, M.J., Castaneda, C., Arnold, C., Jaxheimer, J., Love, C.C., Varner, D.D., Lindgren, G., Wade, C.M., Raudsepp, T. :
Characterization of a homozygous deletion of steroid hormone biosynthesis genes in horse chromosome 29 as a risk factor for disorders of sex development and reproduction. Genes (Basel) 11, 2020. Pubmed reference: 32120906. DOI: 10.3390/genes11030251.
2012 Pujar, S., Meyers-Wallen, V. :
Sequence variations in equine candidate genes for XX and XY inherited disorders of sexual development. Reprod Domest Anim 47:827-834, 2012. Pubmed reference: 22239239. DOI: 10.1111/j.1439-0531.2011.01976.x.
2001 Selders, C.G., Hendrickson, D.A., Bowling, A.T., McCue, P.M. :
The use of laparoscopy to diagnose a case of equine intersex: A case report Journal of Equine Veterinary Science 21:547-549, 2001.
1998 Toth, J., Hollerrider, J., Scheidemann, W., Kovac, M. :
Masculine (testicular) pseudohermaphroditism and concurrent cryptorchidism in a horse [Hungarian] Magyar Allatorvosok Lapja 120:579-581, 1998.
1990 Leadon, D.P. :
When is a filly not a filly. Equine Veterinary Journal 22:149, 1990. Pubmed reference: 2361499.
1961 Rauchbach, K. :
[Hermaphroditism in the horse] Monatshefte fur Veterinarmedizin 16:220-221, 1961.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 17 Sep 2021
  • Changed by Imke Tammen2 on 01 Oct 2023