Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das papillorenale Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen des PAX2-Gens hervorgerufen wird. Zu den wesentlichen Merkmalen zählen ein Kolobom des Nervus opticus und Nierenfehlbildungen. Daneben können nicht selten auftreten: ein vesikorenaler Reflux, Hochtonschwerhörigkeit, Veränderungen im zentralen Nervensystem und genitale Fehlbildungen.
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OMIM.ORG article Omim 120330
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