The patient information leaflets below outline the different genetic disease profiles.
PKD2 & Autosomal Dominant PKD
SLC7A9 & Cystinuria
TRPC6 & Focal Segmental Glomerulosclerosis
SLC3A1 & Cystinuria
MUC1 & Medullary Cystic Kidney Disease Type 1
NPHP3 & Nephronophthisis
NPHP4 & Nephronophthisis
PAX2 Gene & Renal Coloboma Syndrome
PKD1 & Autosomal Dominant Polycystic Kidney Disease
INF2 & Focal Segmental Glomerulosclerosis
LCAT & Complete LCAT Deficiency
NPHP1 & Nephronophthisis
OCRL1 & Lowe Syndrome
OCRL1 & Dent Disease
FWT1 & Wilms Tumour
GRHPR & Primary Hyperoxaluria
HNF1 Beta & Renal Cysts and Diabetes Syndrome
HOAG1 & Primary Hyperoxaluria
CFHR & C3 Glomerulopathy
CLCN5 & Dent Disease
COL4A3 & Alport Syndrome
COL4A4 & Alport Syndrome
COL4A5 & Alport Syndrome
COL5A4 & Alport Syndrome
BBS8 & Bardet-Biedl Syndrome
BBS9 & Bardet-Biedl Syndrome
BBS10 & Bardet-Biedl Syndrome
AGXT & Primary Hyperoxaluria
AVP & Familial Diabetes Insipidus
BBS1 & Bardet-Biedl Syndrome
BBS2 & Bardet-Biedl Syndrome
BBS4 & Bardet-Biedl Syndrome
BBS5 & Bardet-Biedl Syndrome
BBS7 & Bardet-Biedl Syndrome
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