Disease #04211

Official abbreviation RPar
Name retinitis pigmentosa, autosomal recessive (RPar)
OMIM ID -
Individuals reported having this disease 465
Phenotype entries for this disease 466
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

465 entries on 5 pages. Showing entries 1 - 100.
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00032863 - - - - - ? (unknown) - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032864 - PubMed: Khaliq 2005 - - - Pakistan - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032865 - Khaliq 2005 - - - (Pakistan) - - 0 - - RPar - RP1 RP1 2 2 Christina Zeitz
00032868 - - family, 7 affecteds - - Pakistan - - 0 - - RPar - RP1 RP1 2 7 Christina Zeitz
00032869 - - - - - - - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032899 - - - - - - - - 0 - - RPar - RP1 RP1 1 1 Christina Zeitz
00032903 - - - - - - - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032905 - - - - - - - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032906 - - - - - - - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00032907 - PubMed: Khaliq 2005 - - - Pakistan - - 0 - - RPar - RP1 RP1 2 1 Christina Zeitz
00033041 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar - CRB1 CRB1 1 1 Johan den Dunnen
00033042 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar retinal telangiectasia CRB1 CRB1 1 1 Johan den Dunnen
00033067 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar - CRB1 CRB1 2 1 Johan den Dunnen
00033069 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar - CRB1 CRB1 2 1 Johan den Dunnen
00033070 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar - CRB1 CRB1 2 1 Johan den Dunnen
00033071 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar retinal telangiectasia CRB1 CRB1 2 1 Johan den Dunnen
00033077 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - RPar retinal telangiectasia CRB1 CRB1 2 1 Johan den Dunnen
00033178 - - 4-generation family, unaffected heterozygous RP carrier with BBS - - Spain - - 0 - - RPar - C2orf71 C2orf71 1 1 Johan den Dunnen
00034374 - PubMed: Sergouniotis 2011 1 consanguineous case - - Turkey - - 0 - - RPar adult onset RP, night blind, field of vision reduced to <10 degrees KCNJ13 KCNJ13 1 2 Johan den Dunnen
00034375 - PubMed: Sergouniotis 2011 - - - United Kingdom (Great Britain) Asia, south - 0 - - RPar adult onset RP KCNJ13 KCNJ13 1 1 Johan den Dunnen
00038331 - PubMed: Booij 2011 - ? ? ? (unknown) ? - 0 - - RPar ? CRB1 CRB1 1 1 Frans Cremers
00038332 - PubMed: Booij 2011 - ? ? ? (unknown) ? - 0 - - RPar ? CRB1 CRB1 1 1 Frans Cremers
00038333 - PubMed: Booij 2011 - ? ? ? (unknown) ? - 0 - - RPar ? CRB1 CRB1 1 1 Frans Cremers
00038334 - PubMed: Booij 2011 - ? ? ? (unknown) ? - 0 - - RPar ? CRB1 CRB1 1 1 Frans Cremers
00038335 - PubMed: Booij 2011 - ? ? ? (unknown) ? - 0 - - RPar ? CRB1 CRB1 2 1 Frans Cremers
00059751 - PubMed: Gu 1999 - - - - Indian - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059752 - - - F - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059753 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059754 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059755 - - 1 familie, 4 patients, index case, also her affected sister carries the same mutations F - - Libyan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059756 - - 1 familie, 3 patients, index case, also his affected brother carries the same mutations M yes - Syrian Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059757 - - - M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059758 - - 1 familie, 2 patients M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059759 - - 1 familie, 2 patients F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059760 - - 1 familie, 2 patients, index case, also her affected sister carries the same mutations F yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059761 - - - F - - Ashkenazi Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059762 - - - F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059763 - - - M - - Libyan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059764 - - 1 familie, 2 patients, index case, also her affected brother carries the same mutations F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059765 - - 1 familie, 2 patients, also his affected sister carries the same mutations M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059766 - - - F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059767 - - - F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059768 - - 1 familie, 2 patients, index case, also his affected sister carries the same mutations M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059769 - - 1 familie, 2 patients, index case, also his affected sister carries the same mutations M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059770 - - 1 familie, 2 patients, also her affected brother carries the same mutations F - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059771 - - 1 familie, 4 patients, index case, also V:1 and IV:3 carry the same mutations M yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059772 - - 1 familie, 4 patients, sister of V:2 F yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059773 - - 1 familie, 4 patients, cousin of V:1 & 2 F yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059774 - - 1 familie, 2 patients, index case, also his affected brother carries the same mutations M yes - Syrian Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059775 - - 1 familie, 4 patients, index case, also VI:5, V:2 and V:5 carry the same mutations M - - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059776 - - 1 familie, 4 patients, brother of V:5, also VI:5, V:2 and V:5 carry the same mutations M yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059777 - - 1 familie, 4 patients, sister of V:2, also VI:5, V:2 and V:5 carry the same mutations F yes - Moroccan Jew - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059778 - - - M yes - Arab Muslim - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059883 - - - - - - - - 0 - - RPar - LCA5 LCA5 1 1 Frans Cremers
00059884 - - - - - - - - 0 - - RPar - LCA5 LCA5 1 1 Frans Cremers
00059885 - - - - - - - - 0 - - RPar - LCA5 LCA5 1 1 Frans Cremers
00059929 - - - - - - Turkish - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059930 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059931 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059932 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059933 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059934 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059935 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059936 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059937 - - - - - - German - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059938 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059939 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059940 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059941 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059942 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059943 - - - - - - ? - 0 - - RPar - FAM161A FAM161A 1 1 Jacopo Celli
00059946 - - 1 familie, 3 patients M - - Ashkenazi Jew(M)/Tunisian Jew (P) - 0 - - RPar - FAM161A FAM161A 2 1 Jacopo Celli
00059947 - - - M - - Bulgarian Jew - 0 - - RPar - FAM161A FAM161A 2 1 Jacopo Celli
00059948 - - 1 familie, 3 patients F - - Libyan and Moroccan Jew - 0 - - RPar - FAM161A FAM161A 2 1 Jacopo Celli
00081894 - Author, Submitted - F no Spain - - 0 - - RPar HP:0001133; HP:0007737; HP:0000543 SYNE2 SYNE2 2 1 Cristina Méndez
00087127 - Author, Submitted - F no Spain - - 0 - - RPar HP:0001133; HP:0007737; HP:0000543 SYNE2 SYNE2 2 1 Cristina Méndez
00087824 - PubMed: Hagstrom 1998 2 generation family 1 affected, 5 carrier F no United States - - 0 - - RPar - TULP1 TULP1 2 1 Raheel Qamar
00087825 - PubMed: Banerjee 1998 - M no United States - - 0 - - RPar - TULP1 TULP1 2 1 Raheel Qamar
00087828 - PubMed: Gu 1998 - ? - Germany - - 0 - - RPar - TULP1 TULP1 1 1 Raheel Qamar
00087830 - PubMed: Paloma 2000 - F ? Spain Spainish - 0 - - RPar - TULP1 TULP1 2 1 Raheel Qamar
00087876 - PubMed: Hebrard 2011 3 generation family, 2 affected, 8 carriers, 1 normal M no France - - 0 - - RPar Bilateral macular atrophy,pigment deposits in retinal periphery,attenuated retinal vessels and pale optic disks TULP1 TULP1 2 1 Raheel Qamar
00087877 - PubMed: Hebrard 2011 3 generation family, 2 affected, 8 carriers, 1 normal F no France - - 0 - - RPar Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks TULP1 TULP1 2 1 Raheel Qamar
00087879 - PubMed: Kannabiran 2012 4 generation family 2 affected, 3 carrier M yes India South india - 0 - - RPar Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes TULP1 TULP1 1 1 Raheel Qamar
00087880 - PubMed: Kannabiran 2012 4 generation family 3 affected, 2 carrier M yes India South india - 0 - - RPar Rpe degeneration, arterial narrowing, pigmentary deposits and disc pallor, cellophane reflexes TULP1 TULP1 1 1 Raheel Qamar
00087882 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit TULP1 TULP1 1 1 Raheel Qamar
00087883 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit TULP1 TULP1 1 1 Raheel Qamar
00087884 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit TULP1 TULP1 1 1 Raheel Qamar
00087885 - PubMed: Iqbal 2011 4 generation family, 4 affected, 4 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit TULP1 TULP1 1 1 Raheel Qamar
00087887 - PubMed: Ajmal 2012 6 generation family, 16 carriers, 27 affected M - Pakistan NothernPunjab,Nothern Pakistan - 0 - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring TULP1 TULP1 1 1 Raheel Qamar
00087888 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent TULP1 TULP1 1 1 Raheel Qamar
00087889 - PubMed: Iqbal 2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent TULP1 TULP1 1 1 Raheel Qamar
00087890 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent TULP1 TULP1 1 1 Raheel Qamar
00087891 - PubMed: Iqbal  2011  4 generation family, 4 affected, 3 carriers F yes Pakistan Southern Punjab - 0 - - RPar Attenuated retinal vessels, pigment deposit,waxy pale appearnace of optic disc,yellow perifoveal annnular ring,bone spicules absent TULP1 TULP1 1 1 Raheel Qamar
00087892 - PubMed: Kondo  2004 2 generation family 2 affected, 3 carrier F no Japan - - 0 - - RPar Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia TULP1 TULP1 1 1 Raheel Qamar
00087893 - PubMed: Kondo  2004 2 generation family 2 affected, 3 carrier M no Japan - - 0 - - RPar Attenuated retinal vessels, minimal pigmented retinopathy with temporal disc pallor and annuli of yellow deposits on the macula, bulles eye appearance of macula, myopia TULP1 TULP1 1 1 Raheel Qamar
00087896 - PubMed: Singh 2009 2 Families M yes India - - 0 - - RPar Macular degeneration,pigment migration, bone–corpuscular pigmentation, vitreous opacities and vitreous pigments,diffuse disc pallor TULP1 TULP1 1 2 Raheel Qamar
00087899 - PubMed: Hagstrom 1998 2 generation family 2 affected M no ? (unknown) - - 0 - - RPar - TULP1 TULP1 2 1 Raheel Qamar
00087900 - PubMed: Hagstrom 1998 2 generation family 2 affected M no ? (unknown) - - 0 - - RPar - TULP1 TULP1 2 1 Raheel Qamar
00087905 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - 0 - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy TULP1 TULP1 2 1 Raheel Qamar
00087906 - PubMed: den Hollander 2007 2 generation family, 5 affected indiviuals F no Suriname - - 0 - - RPar Nustagmus,low visual acuity,nyclatopia, retinal dystrophy TULP1 TULP1 2 1 Raheel Qamar
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