Details of Disease

General Information of Disease (ID: DISUJD9Q)

• Disease Name: Familial juvenile hyperuricemic nephropathy type 2
• Synonyms: HNFJ2; REN-related autosomal dominant tubulointerstitial kidney disease; early-onset hyperuricemia, Anemia, and progressive kidney failure; hyperuricemic nephropathy, familial juvenile, 2; REN-associated familial juvenile hyperuricemic nephropathy; FJHN type 2; familial juvenile hyperuricemic nephropathy type 2; REN familial juvenile hyperuricemic nephropathy; hyperuricemic nephropathy, familial juvenile, type 2; tubulointerstitial kidney disease, autosomal dominant, 4; REN-associated FJHN; autosomal dominant tubulointerstitial kidney disease due to mutations in REN; ADTKD-REN; REN-associated kidney disease; familial juvenile hyperuricemic nephropathy caused by mutation in REN
• Definition: Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DIS6ATU4: Familial juvenile hyperuricemic nephropathy
  DISUJD9Q: Familial juvenile hyperuricemic nephropathy type 2
• Disease Identifiers:
  MONDO ID: MONDO_0013128
  MESH ID: C567760
  UMLS CUI: C2751310
  OMIM ID: 613092
  MedGen ID: 414347
  Orphanet ID: 217330

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
REN	TTB2MXP	Limited	Genetic Variation	[1]
REN	TTB2MXP	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
REN	OT52GZR2	Definitive	Autosomal dominant	[2]

References

• [1] Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6.
• [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.