Disease Required Questionnaire Research/Diagnosis  Gene (s) Referent person
e-mail adress
MCKD2: Medullary Cystic Kidney Disease Type 2 Yes: MCKD UMOD Karin Dahan karin.dahan@ipg.be
Research UMOD Prof. GianMarco Ghiggeri labnefro@ospedale-gaslini.ge.it
Diagnosis UMOD Prof. Mario de Marchi mario.demarchi@unito.it
FHNJ1: Familial Hyperuricemic Nephropathy Type 1 Yes: MCKD Diagnosis UMOD Laurence Heidet laurence.heidet@nck.aphp.fr
Research UMOD Prof. GianMarco Ghiggeri labnefro@ospedale-gaslini.ge.it
Diagnosis UMOD Prof. Mario de Marchi mario.demarchi@unito.it
UMOD Karin Dahan karin.dahan@ipg.be
GCKD: Glomerular Cystic Kidney Disease Yes: MCKD Research UMOD Prof. GianMarco Ghiggeri labnefro@ospedale-gaslini.ge.it
Diagnosis UMOD Prof. Mario de Marchi mario.demarchi@unito.it
Renal Cysts and Diabetes (MODY5) Yes: MODY5 Research TCF2 Gianluca Caridi labnefro@ospedale-gaslini.ge.it 
TCF2  Karin Dahan dahan@gmed.ucl.ac.be
Diagnosis TCF2 Laurence Heidet laurence.heidet@nck.aphp.fr
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