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 relevant human diseases in MONDO:

• MONDO:0002145: disorder of sexual differentiation

Mendelian trait/disorder: unknown

Disease-related: 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.