familial juvenile hyperuricemic nephropathy

familial juvenile hyperuricemic nephropathy
autosomal dominant nephropathy of juvenile onset, with hyperuricemia that may cause gout, decreased glomerular filtration, hypertension, and eventual renal failure. It can be caused by mutation in the UMOD gene (locus: 16p12.3), which encodes Tamm-Horsfall protein (also called uromodulin) or can be caused by mutation in the REN gene (locus: 1q32), which encodes the enzyme renin.

Medical dictionary. 2011.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Tamm-Horsfall protein — Uromodulin, also known as UMOD, Tamm Horsfall protein (THP), or Tamm Horsfall mucoprotein, is a human gene.cite web | title = Entrez Gene: UMOD uromodulin (uromucoid, Tamm Horsfall glycoprotein)| url =… …   Wikipedia

  • ADMCKD2 — Klassifikation nach ICD 10 Q61.5 Medulläre Zystenniere …   Deutsch Wikipedia

  • MCKD2 — Klassifikation nach ICD 10 Q61.5 Medulläre Zystenniere …   Deutsch Wikipedia

  • Medullär-zystische Nierenerkrankung Typ 2 — Klassifikation nach ICD 10 Q61.5 Medulläre Zystenniere …   Deutsch Wikipedia

  • Medullary cystic kidney disease — Classification and external resources ICD 9 753.16 OMIM 174000 603860 …   Wikipedia

  • Gout — Podagra redirects here. For the moth genus, see Podagra (moth). Gout Classification and external resources Gout, a 1799 caricature by James Gillray …   Wikipedia

  • HNF1B — HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene. PBB Summary section title = summary text = TCF2 encodes transcription factor 2, a liver specific factor of the… …   Wikipedia

  • Tamm-Horsfall-Protein — Uromodulin Größe 590 Aminosäuren; 64,3 kDa Precursor (640 aa) Isoformen 3 …   Deutsch Wikipedia

  • Uromodulin — Masse/Länge Primärstruktur 590 Aminosäuren; 64,3 kDa …   Deutsch Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”