KEGG DISEASE: Familial juvenile hyperuricemic nephropathy

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

Inherited metabolic disorder; Urinary system disease

Brite

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

Phagosome

Protein processing in endoplasmic reticulum

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:

MeSH:

C537696 C567760

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

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