Disease #00755

Official abbreviation RTPS-1
Name tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)
OMIM ID 609322
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 149
Phenotype entries for this disease 148
Associated with 1 gene SMARCB1
Associated tissues -
Disease features -
Remarks -


Individuals

149 entries on 2 pages. Showing entries 1 - 100.
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00047879 - - - F - - - - 0 - - RTPS-1 - SMARCA4 SMARCA4 1 1 LOVD-team, but with Curator vacancy
00047880 - - - F - - - - 0 - - RTPS-1 - SMARCA4 SMARCA4 1 1 LOVD-team, but with Curator vacancy
00104564 Patient 2 Author submited - M no France - 00y21m 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julien Masliah-Planchon
00107735 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107736 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107737 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107738 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107739 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107740 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107741 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107742 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107743 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107744 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107745 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107746 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107747 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107748 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107749 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107750 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107751 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107752 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107753 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107754 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 2 1 Till Holsten
00107755 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107756 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107811 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107812 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107813 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107814 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107815 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107816 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107817 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107818 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107819 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107820 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107821 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107822 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107823 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107824 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107825 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107826 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107827 - - - ? - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107828 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107829 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107830 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00107831 - - - - - Germany - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Till Holsten
00173920 Family 9 : III1 PubMed: Ammerlaan AC 2008 - M - - - - 0 - - RTPS-1 myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy SMARCB1 SMARCB1 1 1 Julia Lopez
00173921 22 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173922 23 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173923 2 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173924 6 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173925 12 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173926 13 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173927 14 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173928 17 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173929 02-066 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173930 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173931 Family 7 PubMed: Swensen JJ 2009 - F - - - 2y 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173932 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173933 09-131 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173934 Single patients PubMed: Metts 2017 - F - - - - 0 - - RTPS-1 AML/ it SMARCB1 SMARCB1 1 1 Julia Lopez
00173935 - SMARCB1 database - F - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173936 - SMARCB1 database - F - - - - 0 - - RTPS-1 it + spinal metastases SMARCB1 SMARCB1 1 1 Julia Lopez
00173937 - SMARCB1 database - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173938 IV.2 PubMed: Swensen JJ 2009 - F - - - 02y 0 - - RTPS-1 - SMARCB1 SMARCB1 2 1 Julia Lopez
00173939 - PubMed: Taylor MD 2000 - M - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173940 - PubMed: Janson K 2006 - M - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173941 - PubMed: Janson K 2006 - M - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173942 9F1 PubMed: Bruggers CS 2011 - M - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173943 10F1 PubMed: Bruggers CS 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173944 11F1 PubMed: Bruggers CS 2011 - F - - - - 0 - - RTPS-1 st SMARCB1 SMARCB1 1 1 Julia Lopez
00173945 13F2 PubMed: Bruggers CS 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173947 14F2 PubMed: Bruggers CS 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173948 19F5 PubMed: Bruggers CS 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173949 - PubMed: Kordes U 2014 - F - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
00173950 F 3.1 Family 3 PubMed: Bourdeaut F 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173951 F4.1 Family 4 PubMed: Bourdeaut F 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173952 F5.1 Family 5 PubMed: Bourdeaut F 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173953 F5.2 Family 5 PubMed: Bourdeaut F 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173954 Family 8 : III1 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173955 case16 PubMed: Fujisawa H 2005 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173956 - PubMed: Sévenet N 1999 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173958 - PubMed: Sévenet N 1999 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173959 - PubMed: Sévenet N 1999 - - - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173960 98-074 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173961 07-367 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173962 08-187 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173963 09-223 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173964 06-249 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173965 04-064 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173966 01-247 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173967 06-216 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173969 07-313 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173970 09-289 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173971 09-312 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173972 - PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173973 09-359 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173974 09-261 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173975 09-013 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - SMARCB1 SMARCB1 1 1 Julia Lopez
00173976 - PubMed: Kordes 2010 - F - - - - 0 - - RTPS-1 it SMARCB1 SMARCB1 1 1 Julia Lopez
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