Familial juvenile hyperuricemic nephropathy type 1

Definition

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

Also known as ADTKD-UMOD, autosomal dominant medullary cystic kidney disease type 2, autosomal dominant medullary cystic kidney disease with hyperuricemia, Autosomal Dominant Tubulo-Interstitial Kidney Disease, autosomal dominant tubulointerstitial kidney disease - UMOD, autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD, familial juvenile hyperuricemic nephropathy caused by mutation in UMOD, FJHN type 1, glomerulocystic kidney disease with hyperuricemia and isosthenuria, HNFJ1, hyperuricemic nephropathy, familial juvenile, 1, hyperuricemic nephropathy, familial juvenile, type 1, medullary cystic kidney disease 2, medullary cystic kidney disease type 2, medullary cystic kidney disease type II, tubulointerstitial kidney disease, autosomal dominant, 1, UMOD familial juvenile hyperuricemic nephropathy, UMOD-associated familial juvenile hyperuricemic nephropathy, UMOD-associated FJHN, UMOD-related ADTKD, UMOD-related kidney disease, uromodulin storage disease, uromodulin-associated kidney disease — per MONDO

Also identified as

• DOID 0061122 per MONDO
• MESH C563693 per MONDO
• NCIT C123172 per MONDO
• OMIM 162000 per MONDO
• OMIM 603860 per MONDO
• OMIM 609886 per MONDO
• Orphanet 209886 per MONDO
• Orphanet 88950 per MONDO
• SCTID 445503007 per MONDO
• UMLS C4551496 per MONDO

Affected Organs