tubulointerstitial kidney disease, autosomal dominant, 2
Findings
No curated finding names tubulointerstitial kidney disease, autosomal dominant, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0020726), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MUC1HGNC:7508
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
9 names
Resolves to: tubulointerstitial kidney disease, autosomal dominant, 2
- Also called
- ADTKD-MUC1autosomal dominant medullary cystic kidney disease without hyperuricemiaautosomal dominant tubulointerstitial kidney disease due to mutations in MUC1MCKD1medullary cystic kidney disease 1medullary cystic kidney disease type 1medullary cystic kidney disease, autosomal dominantMUC1-related autosomal dominant medullary cystic kidney diseaseMUCI-related ADTKD