Disease #05580 (MPS (mucopolysaccharidosis (MPS)))

Official abbreviation MPS
Name mucopolysaccharidosis (MPS)
OMIM ID -
Inheritance -
Individuals reported having this disease 1713
Phenotype entries for this disease 1667
Associated with 3 genes ARSK, IDS, IDUA
Associated tissues -
Disease features -
Remarks -
Date created 2019-03-01 09:43:46 +01:00 (CET)
Date last edited N/A


Individuals

1713 entries on 18 pages. Showing entries 1 - 100.
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00385925 V2.49 PubMed: Prasad 2016 - F - - - - - - - MPS mucopolysaccharidosis GALNS GALNS 1 1 Johan den Dunnen
00402890 Fam3PatII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Sudan - - - - - MPS, neurodegeneration - - GALNS, OGDHL 2 1 Barbara Vona
00455168 HP15 PubMed: Popowska 1995 - M - Poland - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455169 HP4 PubMed: Popowska 1995 - M - Poland - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455170 HP3 PubMed: Popowska 1995 - M - Poland - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455171 HP14 PubMed: Popowska 1995 - M - Poland - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455172 HP2 PubMed: Popowska 1995 - M - Poland - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455173 HP6 PubMed: Popowska 1995 - M - Poland - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455174 HP12 PubMed: Popowska 1995 - M - Poland - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455175 HP8 PubMed: Popowska 1995 - M - Poland - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455176 HP3 PubMed: Popowska 1995 - M - Poland - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455177 HP18 PubMed: Popowska 1995 - M - Poland - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455178 HP19 PubMed: Popowska 1995 - M - Poland - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455179 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455180 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455181 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455182 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS intermediate IDS IDS 1 1 Johan den Dunnen
00455183 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455184 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455185 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455186 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455187 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455188 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455189 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455190 patient PubMed: Jonsson 1995 - M - United States - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455191 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455192 patient PubMed: Parkinson 2004 family, 3 affected M - Australia - - - - - MPS severe IDS IDS 1 3 Johan den Dunnen
00455193 patient PubMed: Parkinson 2004 sib M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455194 patient PubMed: Parkinson 2004 sib M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455195 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455196 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS intermediate/mild IDS IDS 1 1 Johan den Dunnen
00455197 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS intermediate/mild IDS IDS 1 1 Johan den Dunnen
00455198 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe (slight attenuated) IDS IDS 1 1 Johan den Dunnen
00455199 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe (slight attenuated) IDS IDS 1 1 Johan den Dunnen
00455200 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe/intermediate IDS IDS 1 1 Johan den Dunnen
00455201 patient PubMed: Parkinson 2004 family, 2 affected M - Australia - - - - - MPS severe IDS IDS 1 2 Johan den Dunnen
00455202 patient PubMed: Parkinson 2004 sib M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455203 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455204 patient PubMed: Parkinson 2004 family, 3 affected M - Australia - - - - - MPS severe IDS IDS 1 3 Johan den Dunnen
00455205 patient PubMed: Parkinson 2004 sib M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455206 patient PubMed: Parkinson 2004 sib M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455207 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS severe IDS IDS 1 1 Johan den Dunnen
00455208 patient PubMed: Parkinson 2004 - M - Australia - - - - - MPS mild IDS IDS 1 1 Johan den Dunnen
00455209 patient PubMed: Tuschi 2005 2-generation family, 1 affected, unaffected carrier mother F - Australia Macedonia - - - - MPS see paper; ..., severe; 4y-markedly delayed psychomotor/speech development, coarse facial features, macroglossia, hepatosplenomegaly, arthrogryposis fingers/toes, gibbus, short stature, dysostosis multiplex, hearing loss, hypertrophy adenoids IDS IDS 1 1 Johan den Dunnen
00455210 Pat1 PubMed: Cudry 2000 2-generation family, 1 affected, unaffected carrier mother F - France gypsy - - - - MPS mild; 11y-hepatomegaly, growth retardation, no dysmorphic features, no multiplex dysostosis, no corneal clouding, no cardiovascular disease, no splenomegaly, no mental retardation IDS IDS 1 1 Johan den Dunnen
00455211 Pat2 PubMed: Cudry 2000 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents F yes France Tunisia - - - - MPS 10y-deceased; severe; 3y6m-coarse face, hearing loss, hepatosplenomegaly, severe thoracolumbar kyphosis, limitations of joint mobility, mental retardation, mitroaortic valvular dysplasia, no corneal clouding IDS IDS 1 1 Johan den Dunnen
00455212 PatA PubMed: Schwartz 2006 - M - Brazil - - - - - MPS see paper; ..., 8y-height 118 cm (10th centile), coarse face, hepatosplenomegaly, dysostosis multiplex, walking difficulties, history of neurological regression, no corneal opacification; electrocardiogram normal; echocardiogram mild regurgitation aortic/mitral valves, mild thickening aortic valve IDS IDS 2 1 Johan den Dunnen
00455213 PatB PubMed: Schwartz 2006 - M - Brazil - - - - - MPS see paper; ..., 3m-macrocephaly; 8y-height 122.8 cm (25th centile), coarse face, joint contractures, dysostosis multiplex, hyperactivity, severe neurodevelopmental delay, no verbal communication, no corneal opacification, echocardiogram mild mitral/tricuspid insufficiency, concentric remodeling left ventricle, mild pulmonary hypertension IDS IDS 1 1 Johan den Dunnen
00455214 FamPatC PubMed: Schwartz 2006 2-generation family, 2 affected brothers M - Brazil - - - - - MPS height 117 cm (25th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification; echocardiogram mild mitral/aortic insufficiency IDS IDS 1 2 Johan den Dunnen
00455215 FamPatD PubMed: Schwartz 2006 brother M - Brazil - - - - - MPS height 105.8 cm (10th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification, nodular skin lesions; echocardiogram, mild mitral/aortic insufficiency IDS IDS 1 1 Johan den Dunnen
00455219 IDUA-1 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455220 IDUA-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455221 IDUA-3 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455222 IDUA-4 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455223 IDUA-5 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455224 IDUA-6 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 2 1 Johan den Dunnen
00455225 IDUA-7 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - MPS - IDUA IDUA 1 1 Johan den Dunnen
00455226 IDS-1 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455227 IDS-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455228 IDS-3 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455229 IDS-4 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455230 IDS-5 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455231 IDS-6 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455232 IDS-7 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455233 IDS-8 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455234 IDS-9 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455235 IDS-10 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455236 IDS-11 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455237 IDS-12 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455238 IDS-13 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455239 IDS-14 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455240 IDS-15 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455241 IDS-16 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455242 IDS-17 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455243 IDS-18 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455244 IDS-19 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455245 IDS-20 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455246 IDS-21 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455247 IDS-22 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455248 IDS-23 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455249 IDS-24 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455250 IDS-25 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455251 IDS-26 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455252 IDS-27 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455253 IDS-28 PubMed: Pollard 2013, PubMed: Pollard 2016 family, 2 affected sibs M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455254 IDS-29 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455255 IDS-30 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455256 IDS-31 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455257 IDS-32 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455258 IDS-33 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455259 IDS-34 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455260 IDS-35 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455261 IDS-36 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455262 IDS-37 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455263 IDS-38 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455264 IDS-39 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455265 IDS-40 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455266 IDS-41 PubMed: Pollard 2013, PubMed: Pollard 2016 >1 unrelated patients M - United States - - - - - MPS - IDS IDS 1 2 Johan den Dunnen
00455267 IDS-42 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
00455268 IDS-43 PubMed: Pollard 2013, PubMed: Pollard 2016 - M - United States - - - - - MPS - IDS IDS 1 1 Johan den Dunnen
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