Details of Disease

General Information of Disease (ID: DISNNWG2)

• Disease Name: Renal cysts and diabetes syndrome
• Synonyms: glomerulocystic kidney disease, hypoplastic type; glomerulocystic kidney, familial hypoplastic; maturity-onset diabetes of the young type 5; FJHN atypical; MODY type 5; maturity-onset diabetes of the Young, type 5; FJHN, atypical; hyperuricemic nephropathy, familial juvenile, atypical; HNF1B-MODY; RCAD; renal cysts and diabetes syndrome; renal cysts-maturity-onset diabetes of the young syndrome; RCAD syndrome; atypical familial juvenile hyperuricemic nephropathy; hepatocyte nuclear Factor 1-beta-associated monogenic diabetes; hypoplastic type glomerulocystic kidney disease; familial hypoplastic glomerulocystic kidney; maturity onset diabetes of the Young, type 5; MODY5; atypical FJHN; renal dysfunction-early-onset diabetes syndrome; CAKUT with diabetes; HNF1B-related renal cysts and diabetes syndrome; congenital anomalies of the kidney and urinary tract with diabetes
• 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.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISG75M5: Maturity-onset diabetes of the young
  DISNNWG2: Renal cysts and diabetes syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007669
  MESH ID: C535520
  UMLS CUI: C0431693
  OMIM ID: 137920
  MedGen ID: 96569
  Orphanet ID: 93111
  SNOMED CT ID: 253864004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HNF4A	TT2F3CD	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNF1B	OTSYIC3T	Definitive	Autosomal dominant	[2]

References

• [1] The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a cell phenotype. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.