Version May 2024
| Disease | Main features | Genes involved | Inheritance |
| Autosomal recessive polycystic kidney disease | Kidney cysts, enlarged kidneys, hepatic fibrosis | PKHD1 | AR |
| Autosomal dominant polycystic kidney disease | Kidney, hepatic, pancreatic, and brain cysts | PKD1, PKD2 | AD |
| Kidney cysts and diabetes syndrome | Monogenic diabetes, kidney dysplasia, single or multiple kidney cysts, genital abnormalities | HNF1b | AD |
| Bardet-Biedl syndrome | Kidney cysts, obesity, polydactyly, retinal dystrophy, intellectual disability | BBS1-BBS12, MKS1, CEP290, FRITZ, SDCCAG8 | AR |
| Nephronophthisis and Senior-Løken syndrome (SNLS) | Kidney fibrosis, kidney cysts, tubular atrophy, retinal dystrophy (in SNLS) | NPHP1-NPHP11 | AR |
| Joubert syndrome | Nephronophthisis, cerebellar ataxia, developmental delay (autism spectrum disorder) | AHI1, NPHP1, CEP290, JBTS6/TMEM67, RPGRIP1L, ARL13B, CC2D2A, INPP5E, JBTS2/TMEM216 | AR |
| Autosomal dominant tubulointerstitial kidney disease | Kidney cysts, fibrosis, hypertension, hyperuricemia | UMOD, MUC1, REN | AD |
| Meckel-Gruber syndrome | Occipital meningoencephalocele, cystic kidneys, liver fibrosis, polydactyly | MKS1, MKS3/TMEM67, NPHP3, CEP290, RPGRIP1L, CC2D2A, MKS2/TMEM216 | AR |
| Oral-facial-digital syndrome 1 | Malformations of face, oral cavity, and digits; kidney cysts; polydactyly | OFD1 | X-linked |
| Short-rib polydactyly (including Jeune asphyxiating thoracic dystrophy) | Kidney cysts, shortened bones, polydactyly, situs inversus | DYN2CH1, IFT80 | AR |
| von Hippel-Lindau disease | Benign and malignant tumors of different organs, including renal cell carcinomas | VHL | AD |
| Tuberous sclerosis complex | Kidney cysts, benign tumors in multiple organs, dermatologic abnormalities including hypopigmented macules (ash-leaf spots), angiofibromas, shagreen patches, and brown fibrous plaque of the forehead | TSC1, TSC2 | AD |
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