Details for disease: Retinitis pigmentosa (RP)


Retinitis pigmentosa (RP) (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.


Title
Retinitis pigmentosa (RP)
KEGG ID
H00527    (more details)
OMIM ID
268000
DisGeNet ID
C0035334    (more details)
Involved Genes
IRX5 / AHR / ABCA4 / HTRA1 / RLBP1 / C1QTNF5 / ARL3 / BBS1 / BBS2 / CA4 / CHM / CLN3 / CNGB1 / CNGA1 / CRX / GUCA1B / GUCY2D / IDH3A / IDH3B / IMPDH1 / MAK / NEK2 / NRL / PDE6A / PDE6G / PDE6B / RBP3 / RBP4 / RGR / RHO / ROM1 / RP9 / RP1 / RP2 / RPE65 / SAG / TTPA / TUB / TULP1 / USH2A / CLRN1 / BEST1 / IFT88 / OFD1 / PROM1 / UNC119 / PRPF4 / PRPF3 / LRAT / CROCC / IFT140 / DHX38 / NR2E3 / NAALADL1 / TOPORS / MERTK / PRPF8 / PDAP1 / ATF6 / SNRNP200 / ARHGEF18 / CRB1 / ARL2BP / AIPL1 / PRPF6 / FSCN2 / ABHD12 / PRPF31 / IFT172 / FLVCR1 / SCAPER / IMPG2 / AHI1 / POMGNT1 / SPATA7 / KIZ / KLHL7 / PRTFDC1 / RPGRIP1 / KIAA1549 / SLC7A14 / AGBL5 / SEMA4A / ZNF408 / DHDDS / ARL6 / FAM161A / SLC37A3 / CDHR1 / REEP6 / TTC8 / ZNF513 / HGSNAT / RDH12 / FAM71A / CCZ1B / CYP4V2 / EYS / CERKL / PCARE / UBAP1L / FOXI2 / PRCD / PRPH2 / CLCC1 / HK1 / IFT43 / RP1L1 / KIF3B /

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