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Juvenile gout MeSH Supplementary Concept Data 2024


MeSH Supplementary
Juvenile gout
Unique ID
C537696
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537696
Entry Term(s)
Familial Gout-Kidney Disease
Familial Gouty Nephropathy
Familial Juvenile Hyperuricemic Nephropathy
Gouty nephropathy, familial juvenile
HNFJ
HNFJ1
Hyperuricemic Nephropathy, Familial Juvenile
Hyperuricemic Nephropathy, Familial Juvenile 1
Mckd2
Medullary Cystic Kidney Disease Type 2
Nephropathy, familial, with gout
Umod-Related Kidney Disease
Uromodulin Storage Disease
Uromodulin-Associated Kidney Disease
Registry Number
0
Heading Mapped to
*Gout
*Kidney Diseases
*Hyperuricemia
Frequency
42
Note
An autosomal dominant disorder characterized by hyperuricemia due to a low fractional excretion of URIC ACID, defective urinary concentrating ability, interstitial nephropathy, and progression to CHRONIC KIDNEY FAILURE. Both HNFJ1 and medullary cystic kidney disease (MCKD2) (OMIM: 603860) are caused by mutations in the UMOD gene. OMIM: 162000
Date of Entry
2010/08/25
Revision Date
2015/08/18
Juvenile gout Preferred
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