MUC1-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-MUC1 | MCKD1 | MUC1-related medullary cystic kidney disease | MUCI-related ADTKD | Medullary cystic kidney disease type 1
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine) and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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MUC1-related autosomal dominant tubulointerstitial kidney disease?
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Advocacy Organizations
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