Disease #05389

Official abbreviation SWNTS
Name Schwannomatosis (SWNTS)
OMIM ID -
Individuals reported having this disease 87
Phenotype entries for this disease 87
Associated with 3 genes LZTR1, NF2, SMARCB1
Associated tissues -
Disease features -
Remarks -


Individuals

87 entries on 1 page. Showing entries 1 - 87.
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Genes screened

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00174286 - PubMed: Hulsebos TJ 2007 - F - - - - 0 - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174287 I1, Fam1 PubMed: Hadfield KD 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174288 II1, Fam1 PubMed: Hadfield KD 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174289 II3, Fam1 PubMed: Hadfield KD 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174290 - PubMed: Wu J 2015 - M - - - - 0 - - SWNTS spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174291 - PubMed: Wu J 2015 - F - - - - 0 - - SWNTS vestibularis SMARCB1 SMARCB1 1 1 Julia Lopez
00174292 Fam3, Pat1 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174293 Fam3, Pat2 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174294 Fam3, Pat3 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174295 Fam3, Pat4 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174296 - PubMed: Hulsebos TJ 2007 - M - - - - 0 - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174297 II1, Fam2 PubMed: Hadfield KD 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174298 II2, Fam2 PubMed: Hadfield KD 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174299 I1, Fam2 PubMed: Hadfield KD 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174300 - PubMed: Bacci C 2010 - M - - - - 0 - - SWNTS PNS SMARCB1 SMARCB1 1 1 Julia Lopez
00174301 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174302 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174303 - PubMed: Swensen JJ 2009 first family reported with co-occuring MRT + schwannomatosis M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174304 Fam4 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174305 Fam4 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174306 Fam9 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174307 - PubMed: Hulsebos TJ 2014 - F - - - - 0 - - SWNTS history of multiple schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174308 Fam9 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174309 Fam9 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174310 PA-1 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174311 PA-1 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174312 E PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174313 E PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174314 11 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174315 11 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174316 PA-3 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174317 PA-3 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174318 - PubMed: Hulsebos TJ 2014 - F - - - - 0 - - SWNTS, UL leimoyoma of uterine cervix, spinal, PNS, vaginal SMARCB1 SMARCB1 1 1 Julia Lopez
00174319 PA-3 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174320 19 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174321 - PubMed: Carter JM 2012 - F - - - - 0 - - SWNTS (neuroblastoma-like morphology); MPNST within the schwannoma, leg SMARCB1 SMARCB1 1 1 Julia Lopez
00174322 I2 PubMed: Eaton KW 2011 - - - - - - 0 - - SWNTS Schwannoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174323 II1 PubMed: Eaton KW 2011 - M - - - - 0 - - SWNTS Schwannoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174324 Fam4 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174325 Fam5 PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174326 - PubMed: Hadfield KD 2008 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174327 - PubMed: Smith MJ 2012 - - - - - - 0 - - SWNTS familial SMARCB1 SMARCB1 1 1 Julia Lopez
00174328 - PubMed: Smith MJ 2012 - - - - - - 0 - - SWNTS familial SMARCB1 SMARCB1 1 1 Julia Lopez
00174329 II2 PubMed: Hulsebos TJ 010, first case of germ line mosaicism in schwannomatosis M - - - - 0 - - SWNTS four spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174330 - PubMed: Sestini R 2008 - M - - - - 0 - - SWNTS multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174331 sporad10 PubMed: Hadfield KD 2008 - ? - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174332 - PubMed: Rousseau G 2011 - F - - - - 0 - - SWNTS 11 non-vestibular SMARCB1 SMARCB1 1 1 Julia Lopez
00174333 - PubMed: Rousseau G 2011 - M - - - - 0 - - SWNTS unilateral V-, VII- and spinal schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174334 - PubMed: Smith MJ 2012 - - - - - - 0 - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174335 - PubMed: Smith MJ 2014 - - - - - - 0 - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174336 - PubMed: Smith MJ 2014 - - - - - - 0 - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174337 - PubMed: Smith MJ 2014 - - - - - - 0 - - SWNTS sporadic SMARCB1 SMARCB1 1 1 Julia Lopez
00174338 - PubMed: Hulsebos TJ 2016 - M - - - - 0 - - RCCP-1, SWNTS , multiple schwannomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174339 II1 PubMed: Hulsebos TJ 010, - M - - - - 0 - - SWNTS one spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174340 - PubMed: Paganini I 2015 - F - - - - 0 - - SWNTS, ULMS , uterine leiomyosarcoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174341 3 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174342 3 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174343 5 PubMed: Boyd 2008 - M - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174344 5 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174345 10 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174346 10 PubMed: Boyd 2008 - F - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174347 - PubMed: Smith MJ 2014 - - - - - - 0 - - SWNTS familial / Malignant peripheral nerve sheath tumor (MPNST) SMARCB1 SMARCB1 1 1 Julia Lopez
00174348 - PubMed: Gossai N 2015 - M - - - - 0 - - CSS, SWNTS , multiple sites SMARCB1 SMARCB1 1 1 Julia Lopez
00174349 - PubMed: Asai K 2015 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174350 Fam1 PubMed: Melean G 2012 - M - - - - 0 - - SWNTS 6 spinal, 7 PNS, multiple cutaneous SMARCB1 SMARCB1 1 1 Julia Lopez
00174351 - PubMed: Asai K 2015 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174352 - PubMed: Asai K 2015 - - - - - - 0 - - SWNTS - SMARCB1 SMARCB1 1 1 Julia Lopez
00174353 Fam1 PubMed: Melean G 2012 - M - - - - 0 - - 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 - - - - 0 - - SWNTS multiple spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174356 III12 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174357 III15 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00174358 III16 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174359 Fam1 PubMed: Melean G 2012 - M - - - - 0 - - meningioma, SWNTS (fibroblastic) spinal, schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous SMARCB1 SMARCB1 1 1 Julia Lopez
00174360 - PubMed: Bacci C 2010 - M - - - - 0 - - meningioma, SWNTS 2 spinal, 1 abdominal, cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174361 - PubMed: Bacci C 2010 - M - - - - 0 - - meningioma, SWNTS , multiple sites incl. IC SMARCB1 SMARCB1 1 1 Julia Lopez
00174362 - PubMed: Smith MJ 2012 - - - - - - 0 - - SWNTS multiple schwannomas, 1 meningeoma SMARCB1 SMARCB1 1 1 Julia Lopez
00174363 - PubMed: Rousseau G 2011 - M - - - - 0 - - meningioma, SWNTS , multiple schwannomas and meningeomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174364 III17 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174365 IV2 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 3 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174366 IV4 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174368 II3 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 spinal, 3 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174369 III1 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174370 III7 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174371 III10 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00206927 - - - F - Italy - 12y 0 - - SWNTS - LZTR1, NF1, NF2, SMARCB1, SPRED1 LZTR1 1 1 Marica Eoli
00206928 - - - M - ? (unknown) - 06y 0 - - SWNTS - LZTR1, NF1, NF2, SMARCB1, SPRED1 LZTR1 1 1 Marica Eoli
00206929 - - - F - Italy - 48y 0 - - SWNTS - LZTR1, NF1, NF2, SMARCB1, SPRED1 LZTR1 1 1 Marica Eoli
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