Retinal ciliopathy

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Retinal ciliopathy due to mutation in the RPGR gene

ORPHA:156171Category

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

ABCA4ADAM9AGBL5AHI1AHRAIPL1ARHGEF18ARL2BPARL3ARL6ATF6BBS1BBS2BEST1BRWD1CA4CACNA1FCACNA2D4CC2D2ACCDC39CCDC40CCNOCDHR1CERKLCFAP20CFAP221CFAP298CFAP300CFAP410CFAP418CFAP74CLRN1CLXNCNGA1CNGA3CNGB1CNGB3COQ8BCRB1CRXDAW1DHDDSDHX38DNAAF1DNAAF11DNAAF19DNAAF2DNAAF3DNAAF4DNAAF5DNAAF6DNAH1DNAH11DNAH5DNAH7DNAH9DNAI1DNAI2DNAJB13DNAL1DRAM2DRC1DRC2DRC4EYSFAM161AFOXJ1FSCN2FSD1LGAS2L2GNAT2GUCA1AGUCA1BGUCY2DHGSNATHKDC1HYDINIDH3AIDH3BIFT140IFT172IFT43IFT88IMPDH1IMPG1IMPG2KIAA1549KIZKLHL7LRATLRRC56MAKMCIDASMERTKMFSD8NEK10NEK2NME5NME8NMNAT1NR2E3NRLODAD1ODAD2ODAD3ODAD4OFD1OPN1LWOPN1MWPCAREPDE6APDE6BPDE6CPDE6GPITPNM3POC1BPOMGNT1PRCDPROM1PRPF3PRPF31PRPF4PRPF6PRPF8PRPH2RAB28RAX2RBP3RDH12REEP6RGRRHORIMS1RLBP1RNU4-2RNU6-1RNU6-2RNU6-8RNU6-9ROM1RP1RP1L1RP2RP9RPE65RPGRRPGRIP1RSPH1RSPH3RSPH4ARSPH9SAGSAXO6SCAPERSEMA4ASLC7A14SNRNP200SPAG1SPATA7SPEF2STK36TLCD3BTMEM216TOPORSTTC12TTC8TTLL5TUBTULP1UBAP1LUNC119USH2AZMYND10ZNF408ZNF513

Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:

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 C5680669

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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