Medullary Cystic Kidney Disease 2 (MCKD2)

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OMIM 58 603860 MeSH 45 D052177 MedGen 43 C1859040

SNOMED-CT via HPO 70 170733007 190828008 204958008 253883006 263681008 28689008 35885006 428255004 433146000 48440001 8009008 90560007 more UMLS 74 C0268113 C1859040

OMIM : ⁵⁸ Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (174000). (603860)

MalaCards based summary : Medullary Cystic Kidney Disease 2, also known as admckd2, is related to cystic kidney disease and autosomal dominant tubulointerstitial kidney disease, umod-related. An important gene associated with Medullary Cystic Kidney Disease 2 is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotypes are multiple renal cysts and gout

UniProtKB/Swiss-Prot : ⁷⁶ Medullary cystic kidney disease 2: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.

Clinical features from OMIM:

603860

Search Clinical Trials , NIH Clinical Center for Medullary Cystic Kidney Disease 2

Search GEO for disease gene expression data for Medullary Cystic Kidney Disease 2.