/tubulointerstitial kidney disease, autosomal dominant, 2

tubulointerstitial kidney disease, autosomal dominant, 2

Rare Disease

MONDO:0020726

Also Known As

ADTKD-MUC1MCKD1MUC1-related autosomal dominant medullary cystic kidney diseaseMUCI-related ADTKDautosomal dominant medullary cystic kidney disease without hyperuricemiaautosomal dominant tubulointerstitial kidney disease due to mutations in MUC1medullary cystic kidney disease 1medullary cystic kidney disease type 1medullary cystic kidney disease, autosomal dominantADMCKD1MUC1-related autosomal dominant tubulointerstitial kidney diseaseMckdpolycystic kidneys, medullary type

Definition

An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.

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Associated Genes

MUC1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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