Renal cysts and diabetes syndrome: genes and variants

Genes linked to Renal cysts and diabetes syndrome

• HNF1B: Hepatocyte nuclear factor 1-beta

  It controls developmental and metabolic gene programs in kidney, pancreas, liver, and genital tract. Haploinsufficiency or intragenic pathogenic variants cause a multisystem disorder often featuring renal cysts or malformations, maturity-onset diabetes of the young, hypomagnesemia, and genital abnormalities.

  71 disease-causing and 94 uncertain variants in HNF1B are linked to Renal cysts and diabetes syndrome.

• HNF4A: Hepatocyte nuclear factor 4-alpha

  It coordinates transcription of genes involved in hepatic metabolism and pancreatic beta-cell function. Heterozygous pathogenic variants can cause maturity-onset diabetes of the young, often with fetal overgrowth and transient neonatal hyperinsulinemic hypoglycemia in affected families.

  0 disease-causing and 0 uncertain variants in HNF4A are linked to Renal cysts and diabetes syndrome.

Weakly linked (only a few uncertain records): GATA4 and PARK7.

Where Renal cysts and diabetes syndrome variants cluster

• HNF1B POU-specific atypical (positions 93–188): 32 of 71 disease-causing changes, 2.6× more than its size predicts.
• HNF1B Homeobox (positions 231–311): 26 of 71 disease-causing changes, 2.5× more than its size predicts.

Known disease-causing variants in Renal cysts and diabetes syndrome

Showing 60 of 71.

Uncertain variants in Renal cysts and diabetes syndrome that look disease-causing

Which prediction tools work for Renal cysts and diabetes syndrome

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 87 out of 100
• MetaLR: 86 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 84 out of 100
• CATVariant: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 69 out of 100

Diseases related to Renal cysts and diabetes syndrome

• Monogenic diabetes, also linked to HNF1B and HNF4A
• Maturity-onset diabetes of the young, also linked to HNF1B and HNF4A
• Type 2 diabetes mellitus, also linked to HNF1B and HNF4A
• Diabetes mellitus, also linked to HNF1B and HNF4A
• Nonpapillary renal cell carcinoma, also linked to HNF1B

Frequently asked questions

Which genes are linked to Renal cysts and diabetes syndrome?

In CATVariant, Renal cysts and diabetes syndrome is linked to 2 analyzed proteins: HNF1B (Hepatocyte nuclear factor 1-beta) and HNF4A (Hepatocyte nuclear factor 4-alpha).

How many genetic variants are linked to Renal cysts and diabetes syndrome?

204 variants: 71 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 95 are of uncertain significance or have conflicting reports.

Which uncertain variants in Renal cysts and diabetes syndrome look disease-causing?

3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example HNF1B R295H, HNF1B L286P and HNF1B R252W. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Renal cysts and diabetes syndrome?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.87, based on 13 disease-causing and 22 harmless variants).

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.

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