Genetic cystic renal disease

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Genetic cystic renal disease

ORPHA:93587Category

Also called Hereditary cystic renal disease

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ALG5ALG9ARL6B9D1B9D2BBIP1BBS1BBS10BBS12BBS2BBS4BBS5BBS7BBS9BICC1CC2D2ACCND1CEP164CEP19CEP290CFAP418CRB2CSPP1DCDC2DNAJB11DYNC2LI1DZIP1LEVCEVC2FAN1GANABGLI1GLIS3IFNGIFT122IFT140IFT172IFT27IFT43IFT52IFT54IFT74INVSIQCB1LZTFL1MKKSMKS1NEK8NPHP1NPHP3NPHP4PKD1PKD2PKHD1PRKACAPRKACBRPGRIP1RPGRIP1LSCAPERSCLT1SDCCAG8TCTN1TCTN2TCTN3TMEM107TMEM138TMEM216TMEM231TMEM237TMEM67TRIM32TSC1TSC2TTC8TULP3TXNDC15VHLWDPCPWDR19WDR35ZNF423

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Autosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease type 1 with tuberous sclerosisAutosomal recessive polycystic kidney diseaseBardet-Biedl syndromeCranioectodermal dysplasiaEllis-Van Creveld syndromeHepatorenocardiac degenerative fibrosisJoubert syndrome with oculorenal defectJoubert syndrome with renal defectKaryomegalic interstitial nephritisMeckel syndromeNeonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndromeRenal-hepatic-pancreatic dysplasiaRHYNS syndromeSaldino-Mainzer syndromeSenior-Boichis syndromeSenior-Loken syndromeTuberous sclerosis complexVentriculomegaly-cystic kidney diseaseVon Hippel-Lindau disease

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

UMLS C5680285

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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