Rare Disease Library

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

CMT2 due to DGAT2 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

CMT2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

CMT2 due to TFG mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V

Autosomal dominant Charcot-Marie-Tooth disease type 2W

CMT2W · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

CMT2 due to VCP mutation · CMT2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z

Autosomal dominant polycystic kidney disease

ADPKD

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2