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Rare Disease Database

familial juvenile hyperuricemic nephropathy type 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.

Synonyms

  • ADMCKD2
  • ADTKD-UMOD
  • FJHN type 1
  • HNFJ1
  • MCKD2
  • UMOD familial juvenile hyperuricemic nephropathy
  • UMOD-associated FJHN
  • UMOD-associated familial juvenile hyperuricemic nephropathy
  • UMOD-related ADTKD
  • UMOD-related autosomal dominant tubulointerstitial kidney disease
  • UMOD-related kidney disease
  • autosomal dominant medullary cystic kidney disease type 2
  • autosomal dominant medullary cystic kidney disease with hyperuricemia
  • autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD
  • familial juvenile gouty nephropathy
  • familial juvenile hyperuricaemic nephropathy
  • familial juvenile hyperuricemic nephropathy caused by mutation in UMOD
  • familial nephropathy with gout
  • glomerulocystic kidney disease with hyperuricemia and isosthenuria
  • gouty nephropathy, familial juvenile
  • hyperuricemic nephropathy, familial juvenile
  • hyperuricemic nephropathy, familial juvenile, 1
  • hyperuricemic nephropathy, familial juvenile, type 1
  • medullary cystic kidney disease 2
  • medullary cystic kidney disease 2, autosomal dominant
  • medullary cystic kidney disease type 2
  • medullary cystic kidney disease type II
  • nephropathy, familial, with gout
  • tubulointerstitial kidney disease, autosomal dominant, 1
  • uromodulin storage disease
  • uromodulin-associated kidney disease
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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