All individuals with variants in gene NPC2

40 entries on 1 page. Showing entries 1 - 40.
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00000060 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000082 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00080909 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NPC2 Niemann-pick disease, type C2 (OMIM:607625) 1 1 Daniel Trujillano
00225666 25558065-Fam10DG0672 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - - - - ? see paper; …, microcephaly, static encephalopathy, no organomegaly, and normal retina 1 1 Johan den Dunnen
00291111 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00434312 patient PubMed: Hebbar 2016 2-generation family, 1 affected, unaffected heterozygous parents F no India Asia - - - - NP see paper; ..., normal birth weight; 3m-failure to thrive, cough, loose stools; 5m-delay in motor development, could not hold neck or roll over 1 1 Johan den Dunnen
00434316 NP20 PubMed: Fancello 2009 - - - Italy - 4m - - - NP classical phenotype; respiratory distress with interstitial lung infiltration 1 1 Johan den Dunnen
00434328 NP34 PubMed: Fancello 2009 - - - Italy - - - - - NP hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration 1 2 Johan den Dunnen
00434329 NP34sib PubMed: Fancello 2009 - - - Italy - 10m - - - NP hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration 1 1 Johan den Dunnen
00434357 Pat3 (88057/NIH99.04) PubMed: Naureckiene 2000, PubMed: Milat 2001 - F no Italy - 00y06m - - - NP 6m-died; neonatal cholestatic icterus, hepatosplenomegaly, respiratory failure (3 affected siblings diagnosed prenatally, pregnancies terminated) 1 1 Johan den Dunnen
00434358 NPC293.10 PubMed: Naureckiene 2000 - - - United States - - - - - NP - 2 1 Johan den Dunnen
00434359 Pat1 (20082) PubMed: Milat 2001 - F no France - 6m - - - NP hydramnios, 32w-birth cesarean sectio, respiratory distress from birth; 4d-30d-moderate neonatal cholestatic icterus; hepatosplenomegaly, respiratory failure (2 affected siblings diagnosed prenatally, pregnancies were terminated) 1 1 Johan den Dunnen
00434360 Pat2 (88082) PubMed: Milat 2001 - F no France - 6m - - - NP fetal 23w-ascites (that recessed); birth hepatosplenomegaly; 1m-cholestatic icterus; 3m-severe respiratory insufficiency, respiratory failure 2 1 Johan den Dunnen
00434361 Pat4 (93104) PubMed: Milat 2001 - F yes Germany - 7m - - - NP neonatal period uneventful; 3m-severe interstitial pneumonia, hepatosplenomegaly, respiratory insufficiency, failure (brother with “neonatal hepatitis”, severe lung involvement, 6w-died) 1 1 Johan den Dunnen
00434362 Pat5 (89095) PubMed: Milat 2001 - M yes Algeria - 19m - - - NP 4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure 1 1 Johan den Dunnen
00434363 Pat6 (96059) PubMed: Milat 2001 - F no Czech Republic - 4y - - - NP failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity 1 1 Johan den Dunnen
00434364 Pat7 (21033) PubMed: Milat 2001 - F yes Turkey - >20m - - - NP no neonatal cholestatic icterus; 11m-respiratory distress, pulmonary infiltration, (hepato-)splenomegaly; 13m-acute respiratory problems, normal psychomotor development; 18m-hypotonia, gait problems (elder brother splenomegaly, 6m- died in Turkey) 1 1 Johan den Dunnen
00434365 Pat8 (82017/NIH94.85b) PubMed: Milat 2001 - F yes Algeria - >21y - - - NP 6y5m-splenomegaly;, school problems; 11y-epileptic fits; mental retardation, slow progression, 21y-still able to walk (affected sister similar course, 27y-still alive) 1 1 Johan den Dunnen
00434366 FamPat2.2/3 PubMed: Klunemann 2002 3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F - Canada French-Canadian;Germany;Ireland - - - - NP see paper 1 2 Johan den Dunnen
00434367 89021 PubMed: Verot 2007 family, 2 affected sisters F - Italy - 03y06m - - - NP 3y6m-deceased; hepatosplenomegaly, delay in psychomotor milestones, hypotonia with hyperreflexia, ataxia 1 2 Johan den Dunnen
00434368 22073 PubMed: Verot 2007 family, 2 affected brothers M - Italy - 00y15m - - - NP 15m-deceased respiratory failure; soon after birth visceromegaly, cholestasis, failure to thrive, progressive lung interstitial involvement 1 2 Johan den Dunnen
00434369 24060 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents M yes Pakistan - 8m - - - NP neonatal hepatosplenomegaly, developed respiratory distress shortly after birth, failure to thrive; 8m-died of progressive respiratory failure 1 1 Johan den Dunnen
00434370 25131 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents F yes Sri Lanka - 1y - - - NP 4m15d-moderate hepatosplenomegaly, severe pulmonary involvement with hypoxia, severe nutritional problems; 10m15d-bone marrow transplantation, excellent engraftment; 1y-died adenovirus infection 1 1 Johan den Dunnen
00434371 24084 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents - yes Turkey - - - - - NP 12y-neurological symptoms (tremor, speech problems); 17y6m-severe dystonia, mental retardation, no hepatosplenomegaly 1 1 Johan den Dunnen
00434372 25046 PubMed: Verot 2007 2-generation family, 1 affected, unaffected heterozygous parents M yes Algeria - - - - - NP neonatal cholestatic icterus, severe hepatosplenomegaly with ascites, recovery; paternal aunt died at 2m-neonatal cholestatic liver disease 1 1 Johan den Dunnen
00434407 24084 PubMed: Millat 2005 - - - Turkey - - - - - NP - 1 1 Johan den Dunnen
00434408 25046 PubMed: Millat 2005 - - - Algeria - - - - - NP - 1 1 Johan den Dunnen
00434420 91088 PubMed: Varnier 2004 - - - - - - - - - NP - 1 1 Johan den Dunnen
00434421 23140 PubMed: Varnier 2004 - - - - - - - - - NP - 1 1 Johan den Dunnen
00434422 99058 PubMed: Varnier 2004 - - - - - - - - - NP - 1 1 Johan den Dunnen
00434433 - PubMed: Park 2003 - - - - - - - - - NP severe 2 1 Johan den Dunnen
00434434 - PubMed: Park 2003 - - - - - - - - - NP classical phenotype 1 1 Johan den Dunnen
00434435 - PubMed: Park 2003 - - - - - - - - - NP variant phenotype 1 1 Johan den Dunnen
00434436 - PubMed: Park 2003 - - - - - - - - - NP adult onset 1 1 Johan den Dunnen
00434437 - PubMed: Park 2003 - - - - - - - - - NP severe 2 1 Johan den Dunnen
00434438 - PubMed: Park 2003 - - - - - - - - - NP classical phenotype 1 1 Johan den Dunnen
00434928 Pat5 PubMed: Chikh 2005 - - yes Italy - - - - - NP classic NPC, fetal hepatomegaly, ascitis, neonatal jaundice, hepatosplenomegaly; 16m-walk; 2y6m-motor and intellectual regression 1 1 Johan den Dunnen
00434929 Pat6 PubMed: Chikh 2005 2-generation family, 1 affected, unaffected heterozygous parents - - Sri Lanka - - - - - NP calssic NP, cholestatic; 48d-icterus, hepatomegaly; hypotonia, retarded motor development; 5m-developed chronic respiratory failure; elder brother died 9m-chronic respiratory failure with hepatosplenomegaly 1 1 Johan den Dunnen
00434930 Pat7 PubMed: Chikh 2005 2-generation family, 3 affected, unaffected heterozygous parents - yes Morocco - - - - - NP classic; 3y-splenomegaly, bed-ridden, amyotrophy, no clear pyramidal syndrome, severe respiratory problems, close to terminal stage; elder brother died 3y6m-mental rregression; younger brother died 4m-icterus 1 3 Johan den Dunnen
00456234 Pat12 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... (detailed) 1 1 Johan den Dunnen
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