renal cysts and diabetes syndrome
Findings
No curated finding names renal cysts and diabetes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
Definition from the Mondo Disease Ontology (MONDO:0007669), read 2026-09-29. CC BY 4.0.
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the kidneyHPOHP:0000077
- 78 of 88 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 6 of 7 reported patients
- Pancreatic hypoplasiaHPOHP:0002594
- 5 of 6 reported patients
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
- Maturity-onset diabetes of the youngHPOHP:0004904
- 10 of 13 reported patients · Adult onset
Show the remaining 37
- Pancreatic atrophyHPOHP:6000156
- 9 of 15 reported patients
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Abnormality of alkaline phosphatase levelHPOHP:0004379
- 4 of 7 reported patients
- Abnormality of endocrine pancreas physiologyHPOHP:0012093
- Occasional (5% to 29% of cases)
- Abnormality of exocrine pancreas physiologyHPOHP:0012092
- Occasional (5% to 29% of cases)
- Absent vas deferensHPOHP:0012873
- Occasional (5% to 29% of cases)
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.
- HNF1BHGNC:11630
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
11 names
Resolves to: renal cysts and diabetes syndrome
- Also called
- CAKUT with diabetescongenital anomalies of the kidney and urinary tract with diabeteshepatocyte nuclear Factor 1-beta-associated monogenic diabetesHNF1B-MODYHNF1B-related renal cysts and diabetes syndromematurity onset diabetes of the Young, type 5MODY5RCADRCAD syndromerenal cysts-maturity-onset diabetes of the young syndromerenal dysfunction-early-onset diabetes syndrome