Disease #01935

Official abbreviation MPS-3C
Name mucopolysaccharidosis, type IIIC (MPS-3C)
OMIM ID 252930
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 110
Phenotype entries for this disease 110
Associated with 1 gene HGSNAT
Associated tissues -
Disease features -
Remarks -


Individuals

110 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00112236 - PubMed: Feldhammer 2009 - F - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112237 - PubMed: Feldhammer 2009 - M - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112238 - PubMed: Hrebicek 2006 - F - Ireland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112239 - PubMed: Hrebicek 2006 - F - Belarus - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112240 - PubMed: Hrebicek 2006 - F - France - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112241 - PubMed: Hrebicek 2006 - M - Spain - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112242 - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - M - Morocco - - 0 - - MPS-3C - HGSNAT HGSNAT 2 2 Stéphanie Durand
00112243 - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - F - Morocco - - 0 - - MPS-3C - HGSNAT HGSNAT 2 2 Stéphanie Durand
00112244 - PubMed: Fedele 2007 - M - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112245 - PubMed: Ruijter 2008 - F - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112246 - PubMed: Feldhammer 2009 - F - Morocco - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112247 - PubMed: Coutinho 2008 - - - Portugal - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112248 - PubMed: Fedele 2007, PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 2 Stéphanie Durand
00112249 - PubMed: Feldhammer 2009 - - - Germany - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112250 - PubMed: Fan 2006 - - - Canada - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112251 - PubMed: Fan 2006 - - - Canada - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112252 - PubMed: Hrebicek 2006 - M - Canada - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112253 - PubMed: Hrebicek 2006 - M - Algeria - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112254 - PubMed: Feldhammer 2009 - M - Singapore - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112255 - PubMed: Hrebicek 2006 - F - Portugal - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112256 - PubMed: Hrebicek 2006 - M - Portugal - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112257 - PubMed: Coutinho 2008 - - - Portugal - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112258 - PubMed: Coutinho 2008 - - - Portugal - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112259 - PubMed: Ruijter 2008 - - - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112260 - PubMed: Fedele 2007 - M - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112261 - PubMed: Hrebicek 2006 - F - - North African - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112262 - PubMed: Fedele 2007 - M - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112263 - PubMed: Feldhammer 2009 - F - Belgium;Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112264 - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112265 - PubMed: Feldhammer 2009 - - - Pakistan - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112266 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112267 - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112268 - PubMed: Hrebicek 2006 - - - United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112269 - PubMed: Hrebicek 2006 - F - France - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112270 - PubMed: Feldhammer 2009 - - - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112271 - PubMed: Hrebicek 2006 - - - Czech Republic - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112272 - PubMed: Fedele 2007 - F - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112273 - PubMed: Fedele 2007 - F - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112274 - PubMed: Fedele 2007 - F - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112275 - PubMed: Feldhammer 2009 - M - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112276 - PubMed: Feldhammer 2009 - M - Pakistan - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112277 - PubMed: Hrebicek 2006 - M - France - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112278 - PubMed: Hrebicek 2006 - - - Czech Republic - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112279 - PubMed: Hrebicek 2006 - - - United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112280 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112281 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112282 - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112283 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112284 - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112285 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112286 - PubMed: Feldhammer 2009 - - - Germany - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112287 - PubMed: Hrebicek 2006 - - - Czech Republic - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112288 - PubMed: Hrebicek 2006 - - - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112289 - PubMed: Hrebicek 2006 - F - Finland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112290 - PubMed: Feldhammer 2009 - F - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112291 - PubMed: Hrebicek 2006 - - - Czech Republic - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112292 - PubMed: Hrebicek 2006 - - - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112293 - PubMed: Hrebicek 2006 - - - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112294 - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - F - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 2 Stéphanie Durand
00112295 - PubMed: Fedele 2007 - F - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112296 - PubMed: Feldhammer 2009 - M - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112297 - PubMed: Feldhammer 2009 - - - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112299 - PubMed: Hrebicek 2006 - M - France - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112300 - PubMed: Feldhammer 2009 - - - United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112301 - PubMed: Feldhammer 2009 - - - United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112302 - PubMed: Feldhammer 2009 - - - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112303 - PubMed: Feldhammer 2009 - F - United States - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112304 - PubMed: Hrebicek 2006 - M - Canada;United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112305 - PubMed: Feldhammer 2009 - - - Greece - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112306 - PubMed: Feldhammer 2009 - - - Greece - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112307 - PubMed: Hrebicek 2006 - - - Poland - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112308 - PubMed: Hrebicek 2006 - M - Canada;France - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112309 - PubMed: Hrebicek 2006 - F - France - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112310 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 2 1 Stéphanie Durand
00112311 - PubMed: Feldhammer 2009 - - - United Kingdom (Great Britain) - - 0 - - MPS-3C - HGSNAT HGSNAT 3 1 Stéphanie Durand
00112312 - PubMed: Feldhammer 2009 - - - Germany - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112313 - PubMed: Fedele 2007 - M - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112314 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112315 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112316 - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112317 - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112318 - PubMed: Fedele 2007 - F - Italy - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Stéphanie Durand
00112319 - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - M - Turkey - - 0 - - MPS-3C - HGSNAT HGSNAT 1 2 Stéphanie Durand
00226154 Br1 PubMed: Martins 2019, Journal: Martins 2019 Brother Br2; origin: state of Paraiba M yes Brazil - - 0 - - MPS-3C Intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) HGSNAT HGSNAT 1 2 Carla Martins
00226218 Br2 PubMed: Martins 2019, Journal: Martins 2019 Brother Br1; origin: state of Paraiba M yes Brazil - 15y10m 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240) HGSNAT HGSNAT 1 1 Carla Martins
00226219 Br3 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240) HGSNAT HGSNAT 2 1 Carla Martins
00226220 Br4 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) HGSNAT HGSNAT 2 1 Carla Martins
00226221 Br8 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Rio de Janeiro F no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752) HGSNAT HGSNAT 1 1 Carla Martins
00226222 USA1 PubMed: Martins 2019, Journal: Martins 2019 - M no United States white - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943) HGSNAT HGSNAT 2 1 Carla Martins
00226224 Can1 PubMed: Martins 2019, Journal: Martins 2019 - F yes Canada white - 0 - - MPS-3C Intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) HGSNAT HGSNAT 1 1 Carla Martins
00226225 Trk5 PubMed: Martins 2019, Journal: Martins 2019 - M yes Turkey - - 0 - - MPS-3C Hyperactivity (HP:0000752),intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) HGSNAT HGSNAT 1 1 Carla Martins
00226226 Br5 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - 22y 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) HGSNAT HGSNAT 2 1 Carla Martins
00226227 Br6 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) HGSNAT HGSNAT 1 1 Carla Martins
00226228 Br7 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) HGSNAT HGSNAT 1 1 Carla Martins
00226229 Br9 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Alagoas F ? Brazil - - 0 - - MPS-3C - HGSNAT HGSNAT 1 1 Carla Martins
00226230 Br10 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Rio Grande do Sul M ? Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943) HGSNAT HGSNAT 1 1 Carla Martins
00226231 Br11 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Rio Grande do Sul F no Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752) HGSNAT HGSNAT 1 1 Carla Martins
00226232 Br12 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo M yes Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752) HGSNAT HGSNAT 3 1 Carla Martins
00226233 Br13 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Rio de Janeiro F yes Brazil - - 0 - - MPS-3C Intelectual disability, progressive (HP:0006887) HGSNAT HGSNAT 1 1 Carla Martins
00226234 Br14 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo F ? Brazil - - 0 - - MPS-3C Hyperactivity (HP:0000752) HGSNAT HGSNAT 1 1 Carla Martins
Legend   « First ‹ Prev     1 2     Next › Last »