RetNet:
Summaries of Genes and Loci Causing Retinal Diseases

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By genes and loci, diseases or graph:

[ A. Genes and Loci | B. Diseases | C. Complex Diseases | D. Graph ]

Tables A and B list different numbers of genes for each disease because they serve different purposes. The purpose of Table A is to provide a simple count of genes, assigning only one disease per gene. Table B is a list of all diseases associated with each gene, sometimes assigning several diseases per gene. Common diseases are listed in Table C but not in Tables A and B. Please see Notes for details.


(Last updated March 10, 2014)

 

A. Number of Genes and Loci by Disease Category (One Disease per Gene/Locus)

Disease Category Total No. of Genes and Loci No. of Identified Genes
Bardet-Biedl syndrome, autosomal recessive 15 15
Chorioretinal atrophy or degeneration, autosomal dominant 1 1
Cone or cone-rod dystrophy, autosomal dominant 9 5
Cone or cone-rod dystrophy, autosomal recessive 11 10
Cone or cone-rod dystrophy, X-linked 1 0
Congenital stationary night blindness, autosomal dominant 1 1
Congenital stationary night blindness, autosomal recessive 9 9
Congenital stationary night blindness, X-linked 2 2
Leber congenital amaurosis, autosomal dominant 1 1
Leber congenital amaurosis, autosomal recessive 10 10
Macular degeneration, autosomal dominant 14 8
Macular degeneration, autosomal recessive 2 2
Ocular-retinal developmental disease, autosomal dominant 1 1
Optic atrophy, autosomal dominant 5 2
Optic atrophy, autosomal recessive 2 1
Optic atrophy, X-linked 1 0
Retinitis pigmentosa, autosomal dominant 20 19
Retinitis pigmentosa, autosomal recessive 32 29
Retinitis pigmentosa, X-linked 5 2
Syndromic/systemic diseases with retinopathy, autosomal dominant 9 8
Syndromic/systemic diseases with retinopathy, autosomal recessive 41 37
Syndromic/systemic diseases with retinopathy, X-linked 3 2
Usher syndrome, autosomal recessive 15 12
Other retinopathy, autosomal dominant 11 7
Other retinopathy, autosomal recessive 16 14
Other retinopathy, mitochondrial 7 7
Other retinopathy, X-linked 8 7
TOTALS   252 212

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B. Gene and Locus Symbols by Disease Category (One or More Diseases per Gene/Locus)

Disease Category Mapped Loci (not Identified) Mapped and Identified Genes
Bardet-Biedl syndrome, autosomal recessive none ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, INPP5E, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8
Chorioretinal atrophy or degeneration, autosomal dominant MCDR1 RGR, TEAD1
Cone or cone-rod dystrophy, autosomal dominant (- - -), CORD4, CORD17, RCD1 AIPL1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1, PRPH2, RIMS1, SEMA4A, UNC119
Cone or cone-rod dystrophy, autosomal recessive CORD8 ABCA4, ADAM9, C21orf2, C8orf37, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, KCNV2, PDE6C, PDE6H, RAB28, RAX2, RDH5, RPGRIP1
Cone or cone-rod dystrophy, X-linked COD2 CACNA1F, RPGR
Congenital stationary night blindness, autosomal dominant none GNAT1, PDE6B, RHO
Congenital stationary night blindness, autosomal recessive none CABP4, GNAT1, GPR179, GRK1, GRM6, LRIT3, RDH5, SAG, SLC24A1, TRPM1
Congenital stationary night blindness, X-linked none CACNA1F, NYX
Deafness alone or syndromic, autosomal dominant none WFS1
Deafness alone or syndromic, autosomal recessive none CDH23, CIB2, DFNB31, MYO7A, PCDH15, PDZD7, USH1C
Leber congenital amaurosis, autosomal dominant none CRX, IMPDH1, OTX2
Leber congenital amaurosis, autosomal recessive none AIPL1, CABP4, CEP290, CRB1, CRX, DTHD1, GUCY2D, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
Macular degeneration, autosomal dominant BCAMD, BSMD, MCDR1, MCDR3, MCDR4, MCDR5, MDDC BEST1, C1QTNF5, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, PROM1, PRPH2, RP1L1, TIMP3
Macular degeneration, autosomal recessive none ABCA4, CFH, IMPG1
Macular degeneration, X-linked none RPGR
Ocular-retinal developmental disease, autosomal dominant none VCAN
Optic atrophy, autosomal dominant OPA4, OPA5, OPA8 MFN2, OPA1
Optic atrophy, autosomal recessive OPA6 TMEM126A
Optic atrophy, X-linked OPA2 TIMM8A
Retinitis pigmentosa, autosomal dominant RP63 BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS
Retinitis pigmentosa, autosomal recessive RP22, RP29, RP32 ABCA4, ARL2BP, BEST1, C2orf71, C8orf37, CERKL, CLRN1, CNGA1, CNGB1, CRB1, DHDDS, EMC1, EYS, FAM161A, GPR125, IDH3B, IMPG2, KIAA1549, LRAT, MAK, MERTK, MVK, NEK2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, RPE65, SAG, SPATA7, TTC8, TULP1, USH2A, ZNF513
Retinitis pigmentosa, X-linked RP6, RP24, RP34 OFD1, RP2, RPGR
Syndromic/systemic diseases with retinopathy, autosomal dominant CORD1 ABCC6, ATXN7, COL11A1, COL2A1, JAG1, KCNJ13, KIF11, MFN2, OPA3, PAX2, TREX1, VCAN
Syndromic/systemic diseases with retinopathy, autosomal recessive CORS2, FHASD, MRST, WFS2 ABCC6, ABHD12, ACBD5, ADAMTS18, AHI1, ALMS1, CC2D2A, CEP164, CEP290, CLN3, COL9A1, CSPP1, FLVCR1, GNPTG, HARS, IFT140, INPP5E, INVS, IQCB1, LRP5, MKS1, MTTP, NPHP1, NPHP3, NPHP4, OPA3, PANK2, PCYT1A, PEX1, PEX7, PHYH, PXMP3, RPGRIP1L, SDCCAG8, TMEM237, TTPA, TUB, WDPCP, WDR19, WFS1, ZNF423
Syndromic/systemic diseases with retinopathy, X-linked (- - -) OFD1, TIMM8A
Usher syndrome, autosomal recessive USH1E, USH1H, USH1K ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A
Other retinopathy, autosomal dominant CACD, CODA1, EVR3, MCDR4 BEST1, CAPN5, CRB1, FZD4, ITM2B, LRP5, OPN1SW, RB1, TSPAN12
Other retinopathy, autosomal recessive RNANC, VRD1 BEST1, C12orf65, CDH3, CNGA3, CNGB3, CNNM4, CYP4V2, GNAT2, LRP5, MFRP, MVK, NR2E3, OAT, PLA2G5, PROM1, RBP4, RGS9, RGS9BP, RLBP1
Other retinopathy, mitochondrial none KSS, LHON, MT-ATP6, MT-TH, MT-TL1, MT-TP, MT-TS2
Other retinopathy, X-linked PRD CACNA1F, CHM, DMD, NDP, OPN1LW, OPN1MW, PGK1, RS1
 

C. Genes Associated with Complex Forms of Retinal Disease

Disease Category Mapped and Named Loci Symbols of Associated Genes
Age-related macular degeneration (AMD) ---- ABCA4, ARMS2, C2, C3, CFB, CFH, ERCC6, FBLN5, HMCN1, HTRA1, RAX2, TLR3, TLR4
Retinopathy of prematurity (ROP) ---- NDP

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D. Graph

Mapped/Cloned Genes Graph

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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and the Hermann Eye Fund.

©1996-2014, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas