Disease #04214

Official abbreviation RP
Name retinitis pigmentosa (RP)
OMIM ID -
Individuals reported having this disease 1320
Phenotype entries for this disease 1307
Associated with 2 genes MERTK, USH2A
Associated tissues -
Disease features -
Remarks -


Individuals

1320 entries on 14 pages. Showing entries 1 - 100.
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Data_av     

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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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 - - RP non-syndromic RP1 RP1 2 2 Christina Zeitz
00032870 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032902 - - - - - - - - 0 - - RP simplex RP1 RP1 1 1 Christina Zeitz
00032904 - - - - - - - - 0 - - RP simplex RP1 RP1 1 1 Christina Zeitz
00032948 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032956 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032957 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032958 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032962 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032963 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032969 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032972 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032973 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032974 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032976 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032977 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032981 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00032982 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Christina Zeitz
00033003 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033009 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033010 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033011 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033023 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033024 - - seen in 4 affecteds - - - - - 0 - - RP - RP1 RP1 1 4 Johan den Dunnen
00033025 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033026 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033027 - - - - - - - - 0 - - RP - RP1 RP1 1 109 Johan den Dunnen
00033028 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033029 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033030 - - - - - - - - 0 - - RP - RP1 RP1 1 128 Johan den Dunnen
00033031 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033032 - - - - - - - - 0 - - RP - RP1 RP1 1 1 Johan den Dunnen
00033033 - - - - - - - - 0 - - RP - RP1 RP1 2 93 Johan den Dunnen
00033034 - - - - - - - - 0 - - RP - RP1 RP1 1 13 Johan den Dunnen
00033087 - - - F - - - - 0 - - RP clumped pigmentary retinal degeneration ABCA4, CA4, RP2 ABCA4, CA4, RP2 4 1 Kornelia Neveling
00033088 - - - M - - - - 0 - - RP - TOPORS TOPORS 1 1 Kornelia Neveling
00033089 - - - F - - - - 0 - - RP - ELOVL4, IMPG2 ELOVL4, IMPG2 4 1 Kornelia Neveling
00033090 - - - M - - - - 0 - - RP hearing loss CA4 CA4 1 1 Kornelia Neveling
00033091 - - - M - - - - 0 - - RP - CC2D2A, CRB1, RP2, SEMA4A, TOPORS CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 1 Kornelia Neveling
00033092 - - - M - - - - 0 - - RP hearing loss CRB1, TOPORS CRB1, TOPORS 2 1 Kornelia Neveling
00033093 - - - M - - - - 0 - - RP - ABCA4, CRB1, SEMA4A, TOPORS ABCA4, CRB1, SEMA4A, TOPORS 5 1 Kornelia Neveling
00033094 - - - M - - - - 0 - - RP - GUCA1B, RP2 GUCA1B, RP2 3 1 Kornelia Neveling
00033095 - - - M - - - - 0 - - RP - PDE6B, PRPH2, RGR, SNRNP200 PDE6B, PRPH2, RGR, SNRNP200 5 1 Kornelia Neveling
00033096 - PubMed: Neveling 2012 - M no - - - 0 - - RP - AHI1, EYS, PDE6B AHI1, EYS, PDE6B 6 1 Kornelia Neveling
00033097 - - - F - - - - 0 - - RP - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033098 - - - M - - - - 0 - - RP - GUCY2D, RP1 GUCY2D, RP1 2 1 Kornelia Neveling
00033099 - - - M - - - - 0 - - RP - RP1 RP1 2 1 Kornelia Neveling
00033100 - - - F - - - - 0 - - RP - GUCA1A GUCA1A 1 1 Kornelia Neveling
00033101 - - - M - - - - 0 - - RP - RP2 RP2 1 1 Kornelia Neveling
00033102 - - - M - - - - 0 - - RP - RP1 RP1 1 1 Kornelia Neveling
00033103 - - - F - - - - 0 - - RP - RP1 RP1 1 1 Kornelia Neveling
00033104 - - - M - - - - 0 - - RP - GUCY2D, RPGR GUCY2D, RPGR 4 1 Kornelia Neveling
00033105 - - - M - - - - 0 - - RP - CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200 CACNA1F, PROM1, RP2, RPGRIP1L, SNRNP200 6 1 Kornelia Neveling
00033106 - - - M - - - - 0 - - RP - CRB1, PDE6B, SEMA4A CRB1, PDE6B, SEMA4A 3 1 Kornelia Neveling
00033107 - - - F - - - - 0 - - RP - CACNA1F, TOPORS CACNA1F, TOPORS 3 1 Kornelia Neveling
00033108 - - - M - - - - 0 - - RP - GUCA1B, RPE65 GUCA1B, RPE65 3 1 Kornelia Neveling
00033109 - PubMed: Neveling 2012 - F no - - - 0 - - RP - CACNA1F, EYS, GUCA1B, PDE6B CACNA1F, EYS, GUCA1B, PDE6B 4 1 Kornelia Neveling
00033110 - - - F - - - - 0 - - RP - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033111 - - - M - - - - 0 - - RP - TOPORS TOPORS 1 1 Kornelia Neveling
00033112 - - - M - - - - 0 - - RP - GUCA1B, PDE6B GUCA1B, PDE6B 2 1 Kornelia Neveling
00033113 - - - F - - - - 0 - - RP - CACNA1F CACNA1F 1 1 Kornelia Neveling
00033114 - - - F - - - - 0 - - RP - ELOVL4, RIMS1 ELOVL4, RIMS1 3 1 Kornelia Neveling
00033115 - - - M - - - - 0 - - RP - INVS, PDE6B INVS, PDE6B 3 1 Kornelia Neveling
00033116 - - - F - - - - 0 - - RP - CACNA1F, PRPH2, SNRNP200 CACNA1F, PRPH2, SNRNP200 3 1 Kornelia Neveling
00033117 - - - M - - - - 0 - - RP secundary photoreceptor damage due to uveƔtis ODS SEMA4A SEMA4A 1 1 Kornelia Neveling
00033118 - - - F - - - - 0 - - RP - CACNA1F, RPGR, SNRNP200 CACNA1F, RPGR, SNRNP200 3 1 Kornelia Neveling
00033119 - - - M - - - - 0 - - RP - CC2D2A, SNRNP200 CC2D2A, SNRNP200 3 1 Kornelia Neveling
00033120 - - - F - - - - 0 - - RP - RHO, RPGR RHO, RPGR 2 1 Kornelia Neveling
00033121 - - - F - - - - 0 - - RP - SPATA7 SPATA7 2 1 Kornelia Neveling
00033122 - - - M - - - - 0 - - RP - PDE6B PDE6B 3 1 Kornelia Neveling
00033123 - - - F - - - - 0 - - RP - GUCY2D, SNRNP200 GUCY2D, SNRNP200 3 1 Kornelia Neveling
00033124 - - - F - - - - 0 - - RP dystrophy, macular, juvenile ABCA4, GUCA1B, RP2 ABCA4, GUCA1B, RP2 4 1 Kornelia Neveling
00033125 - - - F - - - - 0 - - RP early onset; mild intellectual disability, obesitas C2orf71, SEMA4A, SNRNP200 C2orf71, SEMA4A, SNRNP200 4 1 Kornelia Neveling
00033126 - - - F - - - - 0 - - RP - CA4, PDE6B, TOPORS CA4, PDE6B, TOPORS 3 1 Kornelia Neveling
00033127 - - - F - - - - 0 - - RP - CA4, GUCA1B, RGR CA4, GUCA1B, RGR 3 1 Kornelia Neveling
00033128 - - - M - - - - 0 - - RP - PDE6B PDE6B 2 1 Kornelia Neveling
00033129 - - - M - - - - 0 - - RP 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 - - RP Wilm's tumor ABCA4, GUCY2D, NPHP3, PDE6B, RP9 ABCA4, GUCY2D, NPHP3, PDE6B, RP9 7 1 Kornelia Neveling
00033131 - - - M - - - - 0 - - RP - PDE6B PDE6B 2 1 Kornelia Neveling
00033132 - PubMed: Neveling 2012 - M no - - - 0 - - RP retinal degeneration, severe, early onset (EOSRD) ABCA4, EYS, GUCY2D ABCA4, EYS, GUCY2D 4 1 Kornelia Neveling
00033133 - - - M - - - - 0 - - RP retinal degeneration, severe, early onset (EOSRD) GUCA1A GUCA1A 1 1 Kornelia Neveling
00033134 - - - M - - - - 0 - - RP 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 - - RP - CACNA1F, SEMA4A CACNA1F, SEMA4A 2 1 Kornelia Neveling
00033136 - - - M - - - - 0 - - RP congenital stationary night blindness CACNA1F, PDE6B CACNA1F, PDE6B 2 1 Kornelia Neveling
00033137 - - - F - - - - 0 - - RP - ABCA4 ABCA4 2 1 Kornelia Neveling
00033138 - - - M - - - - 0 - - RP hypertension GUCY2D, PDE6B, RP1, SEMA4A GUCY2D, PDE6B, RP1, SEMA4A 7 1 Kornelia Neveling
00033139 - - - M - - - - 0 - - RP - GUCY2D GUCY2D 1 1 Kornelia Neveling
00033140 - - - M - - - - 0 - - RP - AIPL1, RHO AIPL1, RHO 2 1 Kornelia Neveling
00033141 - - - M - - - - 0 - - RP - GUCY2D, PROM1, RPGR, TOPORS GUCY2D, PROM1, RPGR, TOPORS 4 1 Kornelia Neveling
00033142 - - - M - - - - 0 - - RP age-related mild hearing loss, psoriasis CACNA1F, PDE6B CACNA1F, PDE6B 3 1 Kornelia Neveling
00033143 - - - F - - - - 0 - - RP diabetes mellitus, hypertension, hearing loss CEP290, SEMA4A CEP290, SEMA4A 3 1 Kornelia Neveling
00033144 - - - M - - - - 0 - - RP - CRB1, PDE6B, SEMA4A CRB1, PDE6B, SEMA4A 5 1 Kornelia Neveling
00033145 - - - M - - - - 0 - - RP - GUCA1B, SNRNP200 GUCA1B, SNRNP200 2 1 Kornelia Neveling
00033146 - - - M - - - - 0 - - RP - C2orf71, CACNA2D4, CRB1, PDE6B C2orf71, CACNA2D4, CRB1, PDE6B 5 1 Kornelia Neveling
00033147 - - - M - - - - 0 - - RP - PROM1, PRPF31 PROM1, PRPF31 2 1 Kornelia Neveling
00033148 - - - M - - - - 0 - - RP Mantle cell lymphoma RPGR, SEMA4A RPGR, SEMA4A 2 1 Kornelia Neveling
00033149 - - - F - - - - 0 - - RP - SEMA4A SEMA4A 1 1 Kornelia Neveling
00033150 - - - F - - - - 0 - - RP malignant hypertension with renal failure, followed by transplant GUCY2D GUCY2D 1 1 Kornelia Neveling
00033151 - - - M - - - - 0 - - RP - GUCY2D GUCY2D 1 1 Kornelia Neveling
00033152 - - - M - - - - 0 - - RP - ABCA4, AIPL1, GUCY2D, NR2E3 ABCA4, AIPL1, GUCY2D, NR2E3 5 1 Kornelia Neveling
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