Disease #01191

Official abbreviation BCNS
Name basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome)
OMIM ID 109400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 417
Phenotype entries for this disease 409
Associated with 3 genes PTCH1, PTCH2, SUFU
Associated tissues -
Disease features -
Remarks -


Individuals

417 entries on 5 pages. Showing entries 1 - 100.
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00036599 - - - - - Germany - - 0 - - BCNS suspected Goltz-Gorlin-Syndrom PTCH1 PTCH1 1 1 Andreas Laner
00063299 - PubMed: Savino 2004 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063300 - PubMed: Minami 2001 case 2 F - Japan - - 0 - - BCNS multiple jaw cysts and BCCs, broad nasal root, hypertelorism, frontal bossing, palmoplantar pits, bifid rib, calcification of the falx cerebri and enlargement of the cerebral ventricles. PTCH1 PTCH1 1 1 Michel van Geel
00063301 - PubMed: Savino 2004 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063302 - PubMed: Li 2008 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063303 - PubMed: Tanioka 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063304 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063305 - PubMed: Soufir 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063306 - PubMed: Suzuki 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063307 - PubMed: Wicking 1997,PubMed: Wicking 1997 Sporadic patient JHG547 - - - - - 0 - - BCNS Multiple BCC, dense calcification of falx, palmar pitting, keratocysts, high arched palate. PTCH1 PTCH1 1 1 Michel van Geel
00063308 - PubMed: Marsh 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063309 - PubMed: Endo 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063310 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063311 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063312 - PubMed: Savino 2004 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063313 - PubMed: Zhang 2011 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063314 - PubMed: Shevchenko 2000 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063315 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063316 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063317 - PubMed: Matsuzawa 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063320 - PubMed: Mansilla 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063321 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063323 - PubMed: Romano 2011 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063324 - PubMed: Hahn 1996 Pedigree 2587, 7 family members, 5 affected - - - - - 0 - - BCNS - PTCH1 PTCH1 1 5 Michel van Geel
00063325 - PubMed: Alonso-Gonzalez 2012 - M - Spain - - 0 - - BCNS - PTCH1 PTCH1 1 3 Michel van Geel
00063326 - PubMed: Aszterbaum 1998 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063327 - PubMed: Pastorino 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063328 - PubMed: Skodric-Trifunovic 2015 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063329 - PubMed: Scott 2007 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063330 - PubMed: Hahn 1996 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063331 - PubMed: Ogata 2001 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063333 - PubMed: Takahashi 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063334 - PubMed: Pruvost-Balland 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063335 - PubMed: Pastorino 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063337 - PubMed: Nakamura 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063339 - Kitano 2013 J Oral Maxillofac Surg Med Pathol - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063340 - PubMed: Wicking 1997 Sporadic patient TM - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063341 - PubMed: Matsuzawa 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063342 - PubMed: Pastorino 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063343 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063344 - PubMed: Matsuzawa 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063345 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063346 - PubMed: Chidambaram 1996 NBCCS5 M - - African-American - 0 - - BCNS BCCs in 1 patient, odontogenic keratocysts in 2 patients, palmar and/or plantar pits in 1 patient, medulloblastoma in 1 patient. PTCH1 PTCH1 1 2 Michel van Geel
00063347 - PubMed: Fujii 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063348 - PubMed: Chidambaram 1996 NBCCS6 - - - Caucasian - 0 - - BCNS - PTCH1 PTCH1 1 3 Michel van Geel
00063350 - PubMed: Wicking 1997 Sporadic patient PP - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063351 - PubMed: Hasenpusch-Theil 1997 Patient C2 F - - - - 0 - - BCNS multiple jaw cysts, hypertelorism, many BCCs, spina bifida occulta of the upper and lower thoracic dorsal arches. PTCH1 PTCH1 1 3 Michel van Geel
00063352 - PubMed: Tanioka 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063353 - PubMed: Gururangan 2015 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063354 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063355 - PubMed: Crawford 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063356 - PubMed: Wilson 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063357 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063358 - PubMed: Li 2008 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063359 - PubMed: Hasenpusch-Theil 1997 Patient T1 M - - - - 0 - - BCNS jaw cysts, palmar pits, calcified falx cerebri, bridging of the sella turcica, large naevi on his back and spina bifida occulta of the cervical and thoracic region. PTCH1 PTCH1 1 1 Michel van Geel
00063360 - PubMed: Wicking 1997,PubMed: Wicking 1997 Sporadic patient DD25 - - - - - 0 - - BCNS Keratocysts, dense calcification of falx, macrocephaly, congenital anomaly of thoracic vertebrae. PTCH1 PTCH1 1 1 Michel van Geel
00063361 - PubMed: Wicking 1997 Sporadic patient BH - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063362 - PubMed: Marsh 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063364 - PubMed: Ponti 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063367 - PubMed: Kansal 2007 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063368 - PubMed: Roudgari 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063369 - PubMed: Endo 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063370 - PubMed: Soufir 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063371 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063373 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063374 - PubMed: Soufir 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063376 - PubMed: Barreto 2000 - M - - - - 0 - - BCNS frontal bossing, marfanoid build, bifid rib, and hypertelorism. PTCH1 PTCH1 1 1 Michel van Geel
00063377 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063378 - PubMed: Aszterbaum 1998 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063379 - PubMed: Hasenpusch-Theil 1997 Patient L2 - - - - - 0 - - BCNS jaw cysts, bifid ribs, scoliosis, kyphosis, hypertelorism and numerous BCCs on face, scalp and trunk. PTCH1 PTCH1 1 1 Michel van Geel
00063380 - PubMed: Santos 2011 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063381 - PubMed: Tanioka 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063383 - PubMed: Wicking 1997 Family PB - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063384 - PubMed: Soufir 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063385 - PubMed: Fujii 2011 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063386 - PubMed: Torrelo 2013 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063387 - PubMed: Wang 2009 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063389 - PubMed: Aszterbaum 1998 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063390 - PubMed: Wicking 1997 Sporadic patient RS - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063391 - PubMed: Smucker 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063393 - PubMed: Ponti 2013 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063394 - PubMed: Pruvost-Balland 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063395 - PubMed: Klein 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063396 - PubMed: Goetze 2015 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063398 - PubMed: Reifenberger 2001 - F - - - - 0 - - BCNS more than 300 BCCs and multiple keratocysts PTCH1 PTCH1 1 1 Michel van Geel
00063399 - PubMed: Chidambaram 1996 Pedigree NBCCS11 - - - Caucasian - 0 - - BCNS BCC in 7 patients, odontogenic keratocysts in 3 patients, palmar and/or plantar pits in 4 patients PTCH1 PTCH1 1 8 Michel van Geel
00063400 - PubMed: Pruvost-Balland 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063403 - PubMed: Barreto 2000 - M - - - - 0 - - BCNS multiple keratocysts, and basal cell carcinomas. PTCH1 PTCH1 1 1 Michel van Geel
00063404 - PubMed: Boutet 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063405 - PubMed: Pruvost-Balland 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063407 - PubMed: Matsuzawa 2006 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063409 - PubMed: Lench 1997 30-year-old NBCCS female F - - - - 0 - - BCNS eleven BCCs PTCH1 PTCH1 1 1 Michel van Geel
00063410 - PubMed: Pastorino 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063411 - PubMed: Nagao 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063413 - PubMed: Fujii 2011 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063414 - PubMed: Pastorino 2005 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063415 - PubMed: Pastorino 2012 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063416 - PubMed: Shevchenko 2000 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063417 - PubMed: Savino 2004 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
00063418 - PubMed: Fujii 2003 - - - - - - 0 - - BCNS - PTCH1 PTCH1 1 1 Michel van Geel
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