Renal ciliopathy

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Renal ciliopathy

ORPHA:156162Category

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

ALG5ALG9ALMS1ARL6B9D1B9D2BBIP1BBS1BBS10BBS12BBS2BBS4BBS5BBS7BBS9BICC1CC2D2ACENPFCEP120CEP19CEP290CEP55CFAP418CSPP1DNAJB11DYNC2H1DYNC2I1DYNC2I2DYNC2LI1DZIP1LEVCEVC2GANABGLI1GLI3IFT122IFT140IFT172IFT27IFT43IFT52IFT74IFT80INPP5EKIAA0753KIF14LZTFL1MKKSMKS1MUC1NEK8NPHP1NPHP3OCRLPKD1PKD2PKHD1PRKACAPRKACBRPGRIP1RPGRIP1LSCAPERSCLT1SDCCAG8TCTN1TCTN2TCTN3TMEM107TMEM138TMEM216TMEM231TMEM237TMEM67TRIM32TSC2TTC21BTTC8TXNDC15WDPCPWDR19WDR35ZNF423

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

Alström syndromeAutosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease type 1 with tuberous sclerosisAutosomal recessive polycystic kidney diseaseBardet-Biedl syndromeCranioectodermal dysplasiaEllis-Van Creveld syndromeJeune syndromeJoubert syndrome with hepatic defectJoubert syndrome with oculorenal defectJoubert syndrome with renal defectLethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromeLethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndromeMcKusick-Kaufman syndromeMeckel syndromeMUC1-related autosomal dominant tubulointerstitial kidney diseaseMultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeOculocerebrorenal syndrome of LowePallister-Hall syndromeRenal-hepatic-pancreatic dysplasia

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 C5680652

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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