Tubulointerstitial kidney disease, autosomal dominant, 2

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.

Also known as ADTKD-MUC1, autosomal dominant medullary cystic kidney disease without hyperuricemia, autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1, MCKD1, medullary cystic kidney disease 1, medullary cystic kidney disease type 1, medullary cystic kidney disease, autosomal dominant, MUC1-related autosomal dominant medullary cystic kidney disease, MUCI-related ADTKD — per MONDO

Also identified as

• DOID 0061118 per MONDO
• NCIT C123171 per MONDO
• OMIM 174000 per MONDO
• Orphanet 88949 per MONDO
• UMLS C1868139 per MONDO

Affected Organs