Disease #05415

Official abbreviation USH
Name Usher syndrome (USH)
OMIM ID -
Inheritance -
Individuals reported having this disease 86
Phenotype entries for this disease 86
Associated with 8 genes CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
Associated tissues -
Disease features -
Remarks -


Individuals

86 entries on 1 page. Showing entries 1 - 86.
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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00163142 - PubMed: Bashir et al., 2010 proband F - Pakistan - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163143 - PubMed: Bashir et al., 2010 relative M - Pakistan - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163144 - PubMed: Bashir et al., 2010 relative M - Pakistan - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163145 - PubMed: Bashir et al., 2010 relative F - Pakistan - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163180 - PubMed: Kalay et al., 2005 proband F - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163181 - PubMed: Kalay et al., 2005 relative M - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163182 - PubMed: Kalay et al., 2005 relative F - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163183 - PubMed: Kalay et al., 2005 relative F - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163184 - PubMed: Kalay et al., 2005 relative F - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163185 - PubMed: Kalay et al., 2005 relative M - Turkey - - 0 - - USH - USH1G USH1G 1 1 Anne-Françoise Roux
00163308 - PubMed: Glöcke et al., 2013 proband - - - - - 0 - - USH - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163332 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00165705 - PubMed: Bolz 2001 Proband M - Cuba - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165706 - PubMed: Bolz 2001 Relative M - Cuba - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165798 - PubMed: Bork 2001 Proband M - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165799 - PubMed: Bork 2001 Relative M - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165800 - PubMed: Bork 2001 Relative M - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165801 - PubMed: Bork 2001 Relative F - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165802 - PubMed: Bork 2001 Relative F - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165803 - PubMed: Bork 2001 Relative M - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165804 - PubMed: Bork 2001 Relative M - Pakistan - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165828 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165829 - PubMed: Astuto 2002 Proband - - - Sephardic Jewish - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165830 - PubMed: Astuto 2002 Relative - - - Sephardic Jewish - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165832 - PubMed: Astuto 2002 Proband - - Netherlands - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165833 - PubMed: Astuto 2002 Relative - - Netherlands - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165834 - PubMed: Astuto 2002 Proband - - Netherlands - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165835 - PubMed: Astuto 2002 Relative - - Netherlands - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165838 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165839 - PubMed: Astuto 2002 Relative - - - European - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165840 - PubMed: Astuto 2002 Proband - - Sweden - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165841 - PubMed: Astuto 2002 Relative - - Sweden - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165850 - PubMed: Astuto 2002 Proband - - Sweden - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165851 - PubMed: Astuto 2002 Relative - - Sweden - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165865 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165866 - PubMed: Astuto 2002 Relative - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165867 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165868 - PubMed: Astuto 2002 Relative - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165869 - PubMed: Astuto 2002 Proband - - - - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165872 - PubMed: Astuto 2002 Proband - - Germany - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165874 - PubMed: Astuto 2002 Proband - - Spain - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165875 - PubMed: Astuto 2002 Relative - - Spain - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165880 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165881 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165882 - PubMed: Astuto 2002 Relative - - - European - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165883 - PubMed: Astuto 2002 Proband - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165884 - PubMed: Astuto 2002 Relative - - - European - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165886 - PubMed: Astuto 2002 Proband - - Ireland - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165887 - PubMed: Astuto 2002 Relative - - Ireland - - 0 - - USH - - CDH23 2 1 Anne-Françoise Roux
00165889 - PubMed: Astuto 2002 Proband - - Sweden - - 0 - - USH - - CDH23 1 1 Anne-Françoise Roux
00165969 Fam1PatV1 PubMed: Bitner-Glindzicz 2000 5-generation family, 2 affected (F, M), proband M - - - - 0 - - USH - - ABCC8, USH1C 1 2 Anne-Françoise Roux
00165970 Fam2PatIV2 PubMed: Bitner-Glindzicz 2000 4-generation family, 4 affected (2f, 2M), proband F - - - - 0 - - USH - - ABCC8, USH1C 1 1 Anne-Françoise Roux
00165971 Fam2PatIV4 PubMed: Bitner-Glindzicz 2000 relative M - - - - 0 - - USH - - ABCC8, USH1C 1 1 Anne-Françoise Roux
00166615 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - PCDH15, USH2A 7 1 Maria Bitner-Glindzicz
00166624 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - GPR98, MYO7A, USH2A 4 1 Maria Bitner-Glindzicz
00166631 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, MYO7A 7 1 Maria Bitner-Glindzicz
00166655 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - PCDH15, USH1C, USH2A 3 1 Maria Bitner-Glindzicz
00166658 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, MYO7A, USH1C, USH2A 8 1 Maria Bitner-Glindzicz
00166700 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, GPR98, USH2A 10 1 Maria Bitner-Glindzicz
00166701 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23 2 1 Maria Bitner-Glindzicz
00166720 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, MYO7A, USH1C, USH2A 7 1 Maria Bitner-Glindzicz
00166735 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, MYO7A, PCDH15, USH2A 6 1 Maria Bitner-Glindzicz
00166736 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - CDH23, GPR98, USH1C, USH2A 4 1 Maria Bitner-Glindzicz
00167152 - PubMed: Glöcke 2013 Proband - - - - - 0 - - USH - - CDH23, USH2A 3 1 Anne-Françoise Roux
00167153 - PubMed: Glöcke 2013 Proband - - - - - 0 - - USH - - GPR98 2 1 Anne-Françoise Roux
00168045 IRD4.0_#41 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - 0 - - USH - USH2A USH2A 2 1 María González-del Pozo
00168048 IRD4.0_#16 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - 0 - - USH - USH2A USH2A 2 1 María González-del Pozo
00168050 IRD4.0_#3 Manuscript under review (González-del Pozo et al., 2018) - ? yes Spain - - 0 - - USH - USH2A USH2A 1 1 María González-del Pozo
00168946 - PubMed: Liu 1999 Proband - - China - - 0 - - USH - - USH2A 2 1 Anne-Françoise Roux
00169183 - PubMed: Aller 2004 Proband M - Spain - - 0 - - USH - - USH2A 4 1 Jose Maria Millan
00169198 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - USH - - USH2A 2 1 Jose Maria Millan
00169209 - PubMed: Aller 2004 Proband M - Spain - - 0 - - USH - - USH2A 3 1 Jose Maria Millan
00169221 - PubMed: Jaijo 2010 Proband M - Spain - - 0 - - USH - - USH2A 21 1 Jose Maria Millan
00169287 - PubMed: Liu 1999 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - USH2A 2 1 Anne-Françoise Roux
00169291 - PubMed: Liu 1999 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - USH2A 2 1 Anne-Françoise Roux
00169292 - PubMed: Liu 1999 Relative - - United Kingdom (Great Britain) - - 0 - - USH - - USH2A 2 1 Anne-Françoise Roux
00169295 - PubMed: Liu 1999 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - USH2A 1 1 Anne-Françoise Roux
00169632 - PubMed: Garcia-Garcia 2011 Proband - - Spain - - 0 - - USH - - USH2A 15 1 Jose Maria Millan
00170119 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH - - USH2A 1 1 Maria Bitner-Glindzicz
00170150 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - 0 - - USH - - USH2A 6 1 Jose Maria Millan
00170152 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - 0 - - USH - - USH2A 3 1 Jose Maria Millan
00170222 - PubMed: Xu 2011 Proband M - China - - 0 - - USH - - USH2A 2 1 Anne-Françoise Roux
00170233 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - 0 - - USH - - USH2A 5 1 Anne-Françoise Roux
00207591 - - - F - - - - 0 - - USH - - CDH23 2 4 Marta de Castro-Miró
00285107 - - - - - - - - 0 - - USH - CIB2 CIB2 1 1 LOVD-team, but with Curator vacancy
00289371 Fam PubMed: Lentz 2005 lymphoblast cell lines from the Coriell cell repository for three Acadian Usher patients and unaffected family members (Family 1: GM09070, GM09071 and GM09072; Family 2: GM09456, GM09458 and GM09459; Family 3: GM10354 and GM10359) - - United States - - 0 - - USH - USH1C USH1C 1 1 Johan den Dunnen
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