Autosomal dominant medullary cystic kidney disease with or without hyperuricemia: genes and variants
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is linked to 2 analyzed proteins (UMOD and MUC1). 3 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
UMOD: Uromodulin
It is secreted by thick-ascending-limb cells into urine, where it contributes to salt handling, urinary defense, and protection against kidney stones. Dominant pathogenic variants cause autosomal dominant tubulointerstitial kidney disease, while common regulatory variants influence kidney-function and hypertension risk.
3 disease-causing and 4 uncertain variants in UMOD are linked to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia.
MUC1: Mucin-1
It forms a heavily glycosylated protective barrier on the apical surface of many epithelia and also participates in intracellular signaling. A specific frameshift mechanism causes autosomal dominant tubulointerstitial kidney disease, while overexpression and abnormal glycosylation are common in carcinomas.
0 disease-causing and 0 uncertain variants in MUC1 are linked to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia.
Known disease-causing variants in Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| UMOD C106Y | 106 | EGF-like 2 | Disease-causing (★★) |
| UMOD A461E | 461 | ZP | Disease-causing (★★) |
| UMOD C137W | 137 | EGF-like 3 | Disease-causing |
Same protein, different disease
- Familial juvenile hyperuricemic nephropathy type 1 is also caused by UMOD variants; they fall mostly in different places as the Autosomal dominant medullary cystic kidney disease with or without hyperuricemia variants (53 disease-causing).
Diseases related to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Familial juvenile hyperuricemic nephropathy type 1, also linked to UMOD
- Kidney disorder, also linked to UMOD
- Chronic kidney disease, also linked to UMOD
Frequently asked questions
Which genes are linked to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia?
In CATVariant, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is linked to 2 analyzed proteins: UMOD (Uromodulin) and MUC1 (Mucin-1).
How many genetic variants are linked to Autosomal dominant medullary cystic kidney disease with or without hyperuricemia?
8 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant medullary cystic kidney disease with or without hyperuricemia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center