Nephrologists

Overview of kidney diseases with genetic causes or syndromic diseases with renal involvement. You can download all information on the gene panels and the latest request form “Molecular genetic diagnostics“. Click the disease you are interested in to show detailed information.

• ADPKD
• Alport syndrome
• Alström syndrome
• Arthrogryposis–renal dysfunction–cholestasis syndrome
• Bardet-Biedl syndrome
• Bartter syndrome (hypokalemic salt-losing tubulopathies)
• Beckwith-Wiedemann syndrome
• Fabry disease / alpha-galactosidase A deficiency
• Focal segmental glomerulosclerosis
• Frasier syndrome
• Hemolytic-uremic syndrome, atypical
• HDR syndrome
• Hereditary non-polyposis colorectal cancer (HNPCC)
• IPEX syndrome
• Jeune syndrome (asphyxiating thoracic dysplasia)
• Joubert syndrome
• Lowe syndrome
• Mainzer-Saldino syndrome
• Meckel-Gruber syndrome
• MITF-associated melanoma and renal cell carcinoma predisposition syndrome
• Muckle-Wells syndrome
• MYH9-associated diseases
• Nail-patella syndrome
• NDH syndrome
• Okihiro syndrome (Duane-radial ray syndrome)
• Oral-facial-digital syndrome 1
• Perlman syndrome
• Pierson syndrome
• Renal cell carcinoma, familial papillary
• Renal-coloboma syndrome
• Renal cysts and diabetes syndrome
• Renal glycosuria
• Senior-Loken syndrome
• Sensenbrenner syndrome / cranioectodermal dysplasia
• Sickle cell anemia
• Simpson-Golabi-Behmel syndrome
• Townes-Brocks syndrome
• Tuberous sclerosis
• Von Hippel-Lindau disease
• Xanthinuria
• Zellweger syndrome