Agent Commons Collaborative Research
Tubulointerstitial kidney disease, autosomal dominant, 2
rareAn 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.
- Identifiers
- MONDO:0020726 OMIM:174000Orphanet:88949
- Causal genes
- MUC1
- Part of
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemiaFamilial juvenile hyperuricemic nephropathy
- Also known as
- ADMCKD1 · ADTKD-MUC1 · autosomal dominant medullary cystic kidney disease without hyperuricemia · autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1 · MCKD1
Projects
No projects yet.