Details of Disease | DrugMAP

General Information of Disease (ID: DIS495AH)

Disease Name	Familial juvenile hyperuricemic nephropathy type 1
Synonyms	familial juvenile hyperuricaemic nephropathy; MCKD2; UMOD-related autosomal dominant tubulointerstitial kidney disease; ADMCKD2; medullary cystic kidney disease 2, autosomal dominant; familial nephropathy with gout; nephropathy, familial, with gout; familial juvenile gouty nephropathy; gouty nephropathy, familial juvenile; hyperuricemic nephropathy, familial juvenile; tubulointerstitial kidney disease, autosomal dominant, 1; ADTKD-UMOD; UMOD-associated FJHN; medullary cystic kidney disease 2; autosomal dominant medullary cystic kidney disease with hyperuricemia; Autosomal Dominant Tubulo-Interstitial Kidney Disease; FJHN type 1; hyperuricemic nephropathy, familial juvenile, type 1; hyperuricemic nephropathy, familial juvenile, 1; autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD; glomerulocystic kidney disease with hyperuricemia and isosthenuria; medullary cystic kidney disease type 2; UMOD-related kidney disease; autosomal dominant medullary cystic kidney disease type 2; UMOD familial juvenile hyperuricemic nephropathy; medullary cystic kidney disease type II; UMOD-related ADTKD; uromodulin-associated kidney disease; UMOD-associated familial juvenile hyperuricemic nephropathy; HNFJ1; uromodulin storage disease; familial juvenile hyperuricemic nephropathy caused by mutation in UMOD
Definition	A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DIS3PLLZ: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia DIS6ATU4: Familial juvenile hyperuricemic nephropathy DIS495AH: Familial juvenile hyperuricemic nephropathy type 1
Disease Identifiers	MONDO ID MONDO_0008073 MESH ID C537696 UMLS CUI C4551496 OMIM ID 162000 MedGen ID 1645893 Orphanet ID 88950

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UMOD	OTHP6Y7F	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ1	TTJ13ST	moderate	Biomarker	[2]
------------------------------------------------------------------------------------

References

1	UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab. 2003 Mar;88(3):1398-401. doi: 10.1210/jc.2002-021973.
2	Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.J Biol Chem. 2011 Jan 21;286(3):2224-35. doi: 10.1074/jbc.M110.149880. Epub 2010 Nov 16.