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GTR Home > Conditions/Phenotypes > Renal hypodysplasia/aplasia 3

Renal hypodysplasia/aplasia 3

Summary

RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities, including uterovaginal and ovarian agenesis. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017, Sanna-Cherchi et al., 2017, and Herlin et al., 2019). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C18orf6, DFNA80, KIAA1772, RHDA3, GREB1L
    Summary: GREB1 like retinoic acid receptor coactivator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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