KEGG   DISEASE: H00541Help
Entry
H00541                      Disease                                

Name
Uromodulin-associated kidney diseases, including:
Medullary cystic kidney disease 2;
Familial juvenile hyperuremic nephropathy (HNFJ);
Glomerulocystic kidney disease
Description
Uromodulin-associated kidney diseases are autosomal dominant tubulointerstitial kidney diseases caused by mutations in the ciliary protein uromodulin (Tamm-Horsfall protein), which is exclusively produced in the kidney.
Category
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00541  Uromodulin-associated kidney diseases
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q60-Q64  Congenital malformations of the urinary system
   Q61  Cystic kidney disease
    H00541  Glomerulocystic kidney disease
BRITE hierarchy
Pathway
Renin-angiotensin system
Gene
UMOD [HSA:7369] [KO:K18274]
TCF2 [HSA:6928] [KO:K08034]
REN [HSA:5972] [KO:K01380]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21898032 (description, gene)
  Authors
Bergmann C
  Title
Educational paper : Ciliopathies.
  Journal
Eur J Pediatr (2011)
Reference
PMID:21654721 (description, gene)
  Authors
Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O
  Title
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.
  Journal
Kidney Int 80:338-47 (2011)
Reference
PMID:11261687 (description, gene)
  Authors
Hildebrandt F, Omram H
  Title
New insights: nephronophthisis-medullary cystic kidney disease.
  Journal
Pediatr Nephrol 16:168-76 (2001)
Reference
PMID:19664745 (HNFJ2)
  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)

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