In other species: dog , rabbit

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617805 (trait) , 601076 (trait) , 277000 (trait)

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: Bilateral renal agenesis leads to perinatal death. Animals with unilateral agenesis are often asymptomatic.

Species-specific name: Unilateral renal agenesis, segmental uterine aplasia (or uterus unicornis) with ipsilateral renal agenesis

Species-specific description: Renal agenesis of one kidney may lead to compensatory hypertrophy of the contralateral kidney. Due to this compensatory mechanism, the patient may be asymptomatic (Greco, 2001). Segmental uterine aplasia (uterus unicornis) with ipsilateral renal agenesis occurs as a result of abnormal differentiation of the Mullerian duct development (Chang et al., 2008). As a result, unilateral renal agenesis and ovarian duct agenesis occurs with both ovaries normal and present. (Compiled by Rachel Natsume 13/9/2021)

Clinical features: Often incidental finding during ovariohysterectomy. Likely asymptomatic with compensatory hypertrophy of contralateral kidney (Greco, 2001). (Compiled by Rachel Natsume 13/9/2021)

Pathology: Renal agenesis can be confirmed with abdominal ultrasonography. Histopathology of segmental uterine aplasia "showed that the associated uterine tissue contained smooth muscle, collagen, and blood vessels but lacked any normal uterine tissue. In contrast to these abnormalities, the right ovarian structure was normal, as were the isthmus and infundibulum.” (Dykeman 2020) (Compiled by Rachel Natsume 13/9/2021)