Hildebrandt Lab Research | Overview
The identification of monogenic mutations in one of the following genes may have clinical consequences for pre- and post-transplant management. Here we provide a knowledge base for each gene.
4p13 Deletion [OMIM]
Wolf-Hirschhorn Syndrome
17q12 Deletion [OMIM]
Renal Cysts and Diabetes Syndrome
AGXT [OMIM]
Primary Hyperoxaluria, type 1
DYNC2H1[OMIM]
Short Rib Thoracic Dysplasia, with or without polydactyly
EYA1 [OMIM]
Branchio-Oto-Renal Syndrome (BOR)
HNF1B [OMIM]
Renal Cysts and Diabetes Syndrome
INF2 [OMIM]
Charcot-Marie-Tooth, FSGS
NPHP1 [OMIM]
Nephronophthisis, Joubert Syndrome, Senior-Loken Syndrome
NPHS1 [OMIM]
Nephrotic Syndrome
NPHS2 [OMIM]
Nephrotic Syndrome
NUP93 [OMIM]
Nephrotic Syndrome
PKHD1 [OMIM]
Autosomal Recessive Polycystic Kidney Disease
PLCE1 [OMIM]
Nephrotic Syndrome
SALL1 [OMIM]
Townes-Brocks Syndrome
TRPC6 [OMIM]
Focal segmental glomerulosclerosis (FSGS)