KEGG   DISEASE: Familial juvenile hyperuricemic nephropathy
Entry
H02011                      Disease                                

Name
Familial juvenile hyperuricemic nephropathy
  Supergrp
Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
Description
Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA), defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and FJHN is encompassed by it.
Category
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H02011  Familial juvenile hyperuricemic nephropathy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H02011  Familial juvenile hyperuricemic nephropathy
Pathway
hsa04614 Renin-angiotensin system   
Gene
(HNFJ1) UMOD [HSA:7369] [KO:K18274]
(HNFJ2) REN [HSA:5972] [KO:K01380]
(HNFJ4) SEC61A1 [HSA:29927] [KO:K10956]
Other DBs
ICD-11: 5C55.0Y
ICD-10: E79.0
OMIM: 162000 613092 617056
Reference
  Authors
Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Muller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV
  Title
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
  Journal
Hum Genet 129:51-8 (2011)
DOI:10.1007/s00439-010-0897-1
Reference
  Authors
Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
  Title
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
  Journal
Am J Hum Genet 99:174-87 (2016)
DOI:10.1016/j.ajhg.2016.05.028
Reference
  Authors
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ
  Title
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
  Journal
J Med Genet 39:882-92 (2002)
DOI:10.1136/jmg.39.12.882
Reference
  Authors
Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S
  Title
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
  Journal
Am J Hum Genet 85:204-13 (2009)
DOI:10.1016/j.ajhg.2009.07.010
LinkDB

» Japanese version

DBGET integrated database retrieval system