Nephrologie
Alport Syndrom, autosomal rezessiv
(Col4A3-Gen, MIM *120070, Col4A4-Gen MIM *120131)
Alport Syndrom, X-linked
(Col4A5-Gen, ATS , MIM *303630)
Angiotensin Converting Enzyme
(ACE-Gen, I/D-Polymorphismus, MIM +106180)
Diabetes insipidus
(Neurohypophyseal Type, Arginine Vasopressin, AVP-Gen, MIM *192340)
Von Hippel-Lindau-Syndrom
(VHL-Gen, MIM *688537)