tubulointerstitial kidney disease, autosomal dominant, 2
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.
MONDO:0000608
familial juvenile hyperuricemic nephropathy
is_a
MONDO:0008264
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
is_a
ADMCKD1
related
ADTKD-MUC1
exact
MCKD1
exact
MUC1-related autosomal dominant medullary cystic kidney disease
exact
MUCI-related ADTKD
exact
autosomal dominant medullary cystic kidney disease without hyperuricemia
exact
autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1
exact
medullary cystic kidney disease 1
exact
medullary cystic kidney disease type 1
exact
medullary cystic kidney disease, autosomal dominant
exact