Classification
precaliceal canalicular ectasia (medullary sponge kidney)
medullary cystic kidney disease (MCKD)
- autosomal dominant medullary cystic kidney disease type 1 (ADMCKD1 or MCKD1) (1q21) (MIM.174000)
- autosomal dominant medullary cystic kidney disease type 1 (ADMCKD2 or MCKD2) (MIM.603860). MCKD2 is caused by mutation in the UMOD gene at 16p13.11-p12.3 encoding uromodulin (MIM.191845) and is allelic to familial juvenile hyperuricemic nephropathy (MIM.162000).
- medullary cystic disease, childood type, autosomal recessive (familial juvenile nephronophtisis complex)
- medullary cystic disease, adulthood type, autosomal dominant
- medullary cystic disease, with tapetoretinal degeneration (renal-retinal dysplasia syndrome)