Disease #04214

Official abbreviation retinal disease
Name retinal disease
OMIM ID -
Inheritance -
Individuals reported having this disease 4687
Phenotype entries for this disease 2708
Associated with 13 genes ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408
Associated tissues -
Disease features -
Remarks -


Individuals

4687 entries on 47 pages. Showing entries 1 - 100.
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Genes screened

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00032862 - PubMed: Chen 2010 also found in affected sister II.6, never both variants in unaffected family members suggesting autosmal recessive RP F - China - - 0 - - retinal disease non-syndromic RP1 RP1 2 2 Christina Zeitz
00032870 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032902 - - - - - - - - 0 - - retinal disease simplex RP1 RP1 1 1 Christina Zeitz
00032904 - - - - - - - - 0 - - retinal disease simplex RP1 RP1 1 1 Christina Zeitz
00032948 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032956 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032957 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032958 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032962 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032963 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032969 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032972 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032973 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032974 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032976 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032977 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032981 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00032982 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Christina Zeitz
00033003 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033009 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033010 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033011 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033023 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033024 - - seen in 4 affecteds - - - - - 0 - - retinal disease - RP1 RP1 1 4 Johan den Dunnen
00033025 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033026 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033027 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 109 Johan den Dunnen
00033028 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033029 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033030 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 128 Johan den Dunnen
00033031 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033032 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 1 Johan den Dunnen
00033033 - - - - - - - - 0 - - retinal disease - RP1 RP1 2 93 Johan den Dunnen
00033034 - - - - - - - - 0 - - retinal disease - RP1 RP1 1 13 Johan den Dunnen
00033087 - - - F - - - - 0 - - retinal disease clumped pigmentary retinal degeneration ABCA4, CA4, RP2 ABCA4, CA4, RP2 4 1 Kornelia Neveling
00033088 - - - M - - - - 0 - - retinal disease - TOPORS TOPORS 1 1 Kornelia Neveling
00033089 FamG PubMed: Van Huet 2014, PubMed: Neveling 2012 2-generation family, 2 affected (F, M) F;M yes - - - 0 - - retinal disease - ELOVL4, IMPG2 ELOVL4, IMPG2 4 2 Kornelia Neveling
00033090 - - - M - - - - 0 - - retinal disease hearing loss CA4 CA4 1 1 Kornelia Neveling
00033091 - - - M - - - - 0 - - retinal disease - CC2D2A, CRB1, RP2, SEMA4A, TOPORS CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 1 Kornelia Neveling
00033092 - - - M - - - - 0 - - retinal disease hearing loss CRB1, TOPORS CRB1, TOPORS 2 1 Kornelia Neveling
00033093 - - - M - - - - 0 - - retinal disease - ABCA4, CRB1, SEMA4A, TOPORS ABCA4, CRB1, SEMA4A, TOPORS 5 1 Kornelia Neveling
00033094 - - - M - - - - 0 - - retinal disease - GUCA1B, RP2 GUCA1B, RP2 3 1 Kornelia Neveling
00033095 - - - M - - - - 0 - - retinal disease - PDE6B, PRPH2, RGR, SNRNP200 PDE6B, PRPH2, RGR, SNRNP200 5 1 Kornelia Neveling
00033096 - PubMed: Neveling 2012 - M no - - - 0 - - retinal disease - AHI1, EYS, PDE6B AHI1, EYS, PDE6B 6 1 Kornelia Neveling
00033097 - - - F - - - - 0 - - retinal disease - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033098 - - - M - - - - 0 - - retinal disease - GUCY2D, RP1 GUCY2D, RP1 2 1 Kornelia Neveling
00033099 - - - M - - - - 0 - - retinal disease - RP1 RP1 2 1 Kornelia Neveling
00033100 - - - F - - - - 0 - - retinal disease - GUCA1A GUCA1A 1 1 Kornelia Neveling
00033101 - - - M - - - - 0 - - retinal disease - RP2 RP2 1 1 Kornelia Neveling
00033102 - - - M - - - - 0 - - retinal disease - RP1 RP1 1 1 Kornelia Neveling
00033103 - - - F - - - - 0 - - retinal disease - RP1 RP1 1 1 Kornelia Neveling
00033104 - - - M - - - - 0 - - retinal disease - GUCY2D, RPGR GUCY2D, RPGR 4 1 Kornelia Neveling
00033105 - - - M - - - - 0 - - retinal disease - CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200 CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200 6 1 Kornelia Neveling
00033106 - - - M - - - - 0 - - retinal disease - CRB1, PDE6B, SEMA4A CRB1, PDE6B, SEMA4A 3 1 Kornelia Neveling
00033107 - - - F - - - - 0 - - retinal disease - CACNA1F, TOPORS CACNA1F, TOPORS 3 1 Kornelia Neveling
00033108 - - - M - - - - 0 - - retinal disease - GUCA1B, RPE65 GUCA1B, RPE65 3 1 Kornelia Neveling
00033109 - PubMed: Neveling 2012 - F no - - - 0 - - retinal disease - CACNA1F, EYS, GUCA1B, PDE6B CACNA1F, EYS, GUCA1B, PDE6B 4 1 Kornelia Neveling
00033110 - - - F - - - - 0 - - retinal disease - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033111 - - - M - - - - 0 - - retinal disease - TOPORS TOPORS 1 1 Kornelia Neveling
00033112 - - - M - - - - 0 - - retinal disease - GUCA1B, PDE6B GUCA1B, PDE6B 2 1 Kornelia Neveling
00033113 - - - F - - - - 0 - - retinal disease - CACNA1F CACNA1F 1 1 Kornelia Neveling
00033114 - - - F - - - - 0 - - retinal disease - ELOVL4, RIMS1 ELOVL4, RIMS1 3 1 Kornelia Neveling
00033115 - - - M - - - - 0 - - retinal disease - INVS, PDE6B INVS, PDE6B 3 1 Kornelia Neveling
00033116 - - - F - - - - 0 - - retinal disease - CACNA1F, PRPH2, SNRNP200 CACNA1F, PRPH2, SNRNP200 3 1 Kornelia Neveling
00033117 - - - M - - - - 0 - - retinal disease secundary photoreceptor damage due to uveƔtis ODS SEMA4A SEMA4A 1 1 Kornelia Neveling
00033118 - - - F - - - - 0 - - retinal disease - CACNA1F, RPGR, SNRNP200 CACNA1F, RPGR, SNRNP200 3 1 Kornelia Neveling
00033119 - - - M - - - - 0 - - retinal disease - CC2D2A, SNRNP200 CC2D2A, SNRNP200 3 1 Kornelia Neveling
00033120 - - - F - - - - 0 - - retinal disease - RHO, RPGR RHO, RPGR 2 1 Kornelia Neveling
00033121 - - - F - - - - 0 - - retinal disease - SPATA7 SPATA7 2 1 Kornelia Neveling
00033122 - - - M - - - - 0 - - retinal disease - PDE6B PDE6B 3 1 Kornelia Neveling
00033123 - - - F - - - - 0 - - retinal disease - GUCY2D, SNRNP200 GUCY2D, SNRNP200 3 1 Kornelia Neveling
00033124 - - - F - - - - 0 - - retinal disease dystrophy, macular, juvenile ABCA4, GUCA1B, RP2 ABCA4, GUCA1B, RP2 4 1 Kornelia Neveling
00033125 - - - F - - - - 0 - - retinal disease early onset; mild intellectual disability, obesitas C2orf71, SEMA4A, SNRNP200 C2orf71, SEMA4A, SNRNP200 4 1 Kornelia Neveling
00033126 - - - F - - - - 0 - - retinal disease - CA4, PDE6B, TOPORS CA4, PDE6B, TOPORS 3 1 Kornelia Neveling
00033127 - - - F - - - - 0 - - retinal disease - CA4, GUCA1B, RGR CA4, GUCA1B, RGR 3 1 Kornelia Neveling
00033128 - - - M - - - - 0 - - retinal disease - PDE6B PDE6B 2 1 Kornelia Neveling
00033129 - - - M - - - - 0 - - retinal disease onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal RPE65, TOPORS RPE65, TOPORS 3 1 Kornelia Neveling
00033130 - - - M - - - - 0 - - retinal disease Wilm's tumor ABCA4, GUCY2D, NPHP3, PDE6B, RP9 ABCA4, GUCY2D, NPHP3, PDE6B, RP9 7 1 Kornelia Neveling
00033131 - - - M - - - - 0 - - retinal disease - PDE6B PDE6B 2 1 Kornelia Neveling
00033132 - PubMed: Neveling 2012 - M no - - - 0 - - retinal disease retinal degeneration, severe, early onset (EOSRD) ABCA4, EYS, GUCY2D ABCA4, EYS, GUCY2D 4 1 Kornelia Neveling
00033133 - - - M - - - - 0 - - retinal disease retinal degeneration, severe, early onset (EOSRD) GUCA1A GUCA1A 1 1 Kornelia Neveling
00033134 - - - M - - - - 0 - - retinal disease retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability CEP290, CRX, RIMS1 CEP290, CRX, RIMS1 4 1 Kornelia Neveling
00033135 - - - F - - - - 0 - - retinal disease - CACNA1F, SEMA4A CACNA1F, SEMA4A 2 1 Kornelia Neveling
00033136 - - - M - - - - 0 - - retinal disease congenital stationary night blindness CACNA1F, PDE6B CACNA1F, PDE6B 2 1 Kornelia Neveling
00033137 - - - F - - - - 0 - - retinal disease - ABCA4 ABCA4 2 1 Kornelia Neveling
00033138 - - - M - - - - 0 - - retinal disease hypertension GUCY2D, PDE6B, RP1, SEMA4A GUCY2D, PDE6B, RP1, SEMA4A 7 1 Kornelia Neveling
00033139 - - - M - - - - 0 - - retinal disease - GUCY2D GUCY2D 1 1 Kornelia Neveling
00033140 - - - M - - - - 0 - - retinal disease - AIPL1, RHO AIPL1, RHO 2 1 Kornelia Neveling
00033141 - - - M - - - - 0 - - retinal disease - GUCY2D, PROM1, RPGR, TOPORS GUCY2D, PROM1, RPGR, TOPORS 4 1 Kornelia Neveling
00033142 - - - M - - - - 0 - - retinal disease age-related mild hearing loss, psoriasis CACNA1F, PDE6B CACNA1F, PDE6B 3 1 Kornelia Neveling
00033143 - - - F - - - - 0 - - retinal disease diabetes mellitus, hypertension, hearing loss CEP290, SEMA4A CEP290, SEMA4A 3 1 Kornelia Neveling
00033144 - - - M - - - - 0 - - retinal disease - CRB1, PDE6B, SEMA4A CRB1, PDE6B, SEMA4A 5 1 Kornelia Neveling
00033145 - - - M - - - - 0 - - retinal disease - GUCA1B, SNRNP200 GUCA1B, SNRNP200 2 1 Kornelia Neveling
00033146 - - - M - - - - 0 - - retinal disease - C2orf71, CACNA2D4, CRB1, PDE6B C2orf71, CACNA2D4, CRB1, PDE6B 5 1 Kornelia Neveling
00033147 - - - M - - - - 0 - - retinal disease - PROM1, PRPF31 PROM1, PRPF31 2 1 Kornelia Neveling
00033148 - - - M - - - - 0 - - retinal disease Mantle cell lymphoma RPGR, SEMA4A RPGR, SEMA4A 2 1 Kornelia Neveling
00033149 - - - F - - - - 0 - - retinal disease - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033150 - - - F - - - - 0 - - retinal disease malignant hypertension with renal failure, followed by transplant GUCY2D GUCY2D 1 1 Kornelia Neveling
00033151 - - - M - - - - 0 - - retinal disease - GUCY2D GUCY2D 1 1 Kornelia Neveling
00033152 - - - M - - - - 0 - - retinal disease - ABCA4, AIPL1, GUCY2D, NR2E3 ABCA4, AIPL1, GUCY2D, NR2E3 5 1 Kornelia Neveling
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