Disease #05389 (SWNTS (Schwannomatosis (SWNTS)))

Official abbreviation SWNTS
Name Schwannomatosis (SWNTS)
OMIM ID -
Inheritance -
Individuals reported having this disease 138
Phenotype entries for this disease 113
Associated with 3 genes LZTR1, NF2, SMARCB1
Associated tissues -
Disease features -
Remarks -
Date created 2018-02-01 14:09:26 +01:00 (CET)
Date last edited N/A


Individuals

138 entries on 2 pages. Showing entries 1 - 100.
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00095836 INI00065 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095837 NF2 00218 PubMed: Louvrier 2018 - - - France - - - - - SWNTS ambiguous schwannomatosis LZTR1 LZTR1 1 1 Beatrice Parfait
00095838 NF2 00515 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095839 NF2 00150 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095840 INI1 00004 PubMed: Louvrier 2018 - - - France - - - - - SWNTS Unilateral vestibular schwannoma LZTR1 LZTR1 1 1 Beatrice Parfait
00095841 INI1 00106 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095842 INI 00046 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095843 NF2 00157 PubMed: Louvrier 2018 - - - France - - - - - SWNTS {PMID:Louvrier 2018:29409008} LZTR1 LZTR1 1 1 Beatrice Parfait
00095844 INI1 00119 PubMed: Louvrier 2018 - - - France - - - - - SWNTS see paper; ..., schwannomatosis LZTR1 LZTR1 1 1 Beatrice Parfait
00095850 INI1 00117 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095851 INI1 00027 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095852 INI1 00030 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095853 INI1 00072 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095854 NF2 00188 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095855 INI1 00118 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095856 INI 00067 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095857 INI1 00104 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095858 INI1 00040 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095859 INI1 00008 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095860 NF2 00330 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095861 INI1 00010 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095862 NF2 00357 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095863 NF2 00248 PubMed: Louvrier 2018 - - - France - - - - - SWNTS Unilateral vestibular schwannoma LZTR1 LZTR1 1 1 Beatrice Parfait
00095864 INI1 00032 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095865 INI1 00078 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095866 INI 00017 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095867 NF2 00364 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00095868 INI1 00105 PubMed: Louvrier 2018 - - - France - - - - - SWNTS - LZTR1 LZTR1 1 1 Beatrice Parfait
00152021 INI1 00043 PubMed: Rousseau 2011, g.23787203C>T - F - France - - - - - SWNTS Multiple schwannomas SMARCB1 SMARCB1 1 1 Beatrice Parfait
00152022 NF2 00275 PubMed: Louvrier 2018 - - - France - - - - - SWNTS Multiple schwannomas SMARCB1 SMARCB1 1 1 Beatrice Parfait
00152026 NF2 00108 PubMed: Louvrier 2018 - - - France - - - - - SWNTS multiple schwannomas; fibroblastic meningioma SMARCB1 SMARCB1 1 1 Beatrice Parfait
00174286 - PubMed: Hulsebos TJ 2007 - F - - - - - - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174287 I1, Fam1 PubMed: Hadfield KD 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174288 II1, Fam1 PubMed: Hadfield KD 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174289 II3, Fam1 PubMed: Hadfield KD 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174290 - PubMed: Wu J 2015 - M - - - - - - - SWNTS spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174291 - PubMed: Wu J 2015 - F - - - - - - - SWNTS vestibularis SMARCB1 SMARCB1 1 1 Julia Lopez
00174292 Fam3, Pat1 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174293 Fam3, Pat2 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174294 Fam3, Pat3 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174295 Fam3, Pat4 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174296 - PubMed: Hulsebos TJ 2007 - M - - - - - - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174297 II1, Fam2 PubMed: Hadfield KD 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174298 II2, Fam2 PubMed: Hadfield KD 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174299 I1, Fam2 PubMed: Hadfield KD 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174300 - PubMed: Bacci C 2010 - M - - - - - - - SWNTS PNS SMARCB1 SMARCB1 1 1 Julia Lopez
00174301 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174302 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174303 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174304 Fam4 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174305 Fam4 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174306 Fam9 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174307 - PubMed: Hulsebos TJ 2014 - F - - - - - - - SWNTS history of multiple schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174308 Fam9 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174309 Fam9 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174310 PA-1 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174311 PA-1 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174312 E PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174313 E PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174314 11 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174315 11 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174316 PA-3 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174317 PA-3 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174318 - PubMed: Hulsebos TJ 2014 - F - - - - - - - SWNTS, UL leimoyoma of uterine cervix, spinal, PNS, vaginal SMARCB1 SMARCB1 1 1 Julia Lopez
00174319 PA-3 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174320 19 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174321 - PubMed: Carter JM 2012 - F - - - - - - - SWNTS (neuroblastoma-like morphology); MPNST within the schwannoma, leg SMARCB1 SMARCB1 1 1 Julia Lopez
00174322 I2 PubMed: Eaton KW 2011 - - - - - - - - - SWNTS Schwannoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174323 II1 PubMed: Eaton KW 2011 - M - - - - - - - SWNTS Schwannoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174324 Fam4 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174325 Fam5 PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174326 - PubMed: Hadfield KD 2008 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174327 - PubMed: Smith MJ 2012 - - - - - - - - - SWNTS familial SMARCB1 SMARCB1 1 1 Julia Lopez
00174328 - PubMed: Smith MJ 2012 - - - - - - - - - SWNTS familial SMARCB1 SMARCB1 1 1 Julia Lopez
00174329 II2 PubMed: Hulsebos TJ 010, first case of germ line mosaicism in schwannomatosis M - - - - - - - SWNTS four spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174330 - PubMed: Sestini R 2008 - M - - - - - - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174331 sporad10 PubMed: Hadfield KD 2008 - ? - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174332 - PubMed: Rousseau G 2011 - F - - - - - - - SWNTS 11 non-vestibular SMARCB1 SMARCB1 1 1 Julia Lopez
00174333 - PubMed: Rousseau G 2011 - M - - - - - - - SWNTS unilateral V-, VII- and spinal schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174334 - PubMed: Smith MJ 2012 - - - - - - - - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174335 - PubMed: Smith MJ 2014 - - - - - - - - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174336 - PubMed: Smith MJ 2014 - - - - - - - - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174337 - PubMed: Smith MJ 2014 - - - - - - - - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174338 - PubMed: Hulsebos TJ 2016 - M - - - - - - - RCCP1, SWNTS , multiple schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174339 II1 PubMed: Hulsebos TJ 010, - M - - - - - - - SWNTS one spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174340 - PubMed: Paganini I 2015 - F - - - - - - - SWNTS, ULMS , uterine leiomyosarcoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174341 3 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174342 3 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174343 5 PubMed: Boyd 2008 - M - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174344 5 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174345 10 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174346 10 PubMed: Boyd 2008 - F - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174347 - PubMed: Smith MJ 2014 - - - - - - - - - SWNTS familial / Malignant peripheral nerve sheath tumor (MPNST) SMARCB1 SMARCB1 1 1 Julia Lopez
00174348 - PubMed: Gossai N 2015 - M - - - - - - - CSS, SWNTS , multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174349 - PubMed: Asai K 2015 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174350 Fam1 PubMed: Melean G 2012 - M - - - - - - - SWNTS 6 spinal, 7 PNS, multiple cutaneous SMARCB1 SMARCB1 1 1 Julia Lopez
00174351 - PubMed: Asai K 2015 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174352 - PubMed: Asai K 2015 - - - - - - - - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174353 Fam1 PubMed: Melean G 2012 - M - - - - - - - SWNTS 1 sciatic, 1 cellular, 6 spinal, 1 orbital, 4 PNS, multiple SMARCB1 SMARCB1 1 1 Julia Lopez
00174354 Fam2 PubMed: Melean G 2012 - M - - - - - - - SWNTS multiple spinal SMARCB1 SMARCB1 1 1 Julia Lopez
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