All individuals with variants in gene VCP

94 entries on 1 page. Showing entries 1 - 94.
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00003018 Pat10mov;Pat19 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - 0 - - IBMPFD hereditary spastic paraplegia 1 1 Marcel Nelen
00078544 25457024-FamPat1 PubMed: Hirano 2015, Journal: Hirano 2015 older brother with dementia M - Japan Japanese >72y 0 - - ALS muscle weakness extended to all 4 limbs (HP:0003690), bulbar signs (HP:0002483), severe amyotrophy of all 4 limbs (HP:0003202), diminished deep tendon reflexes (HP:0001265), extensor plantar reflexes (HP:0003487), tongue atrophic (HP:0012473), complete tetraparesis (HP:0002273), hearing difficulty (HP:?), mental impairment ( HP:0100543), complete limb palsy (HP:?), atrophy of the frontal and temporal lobes (HP:0006892), dementia (HP:0000726) 1 1 Jamie Zeegers
00105225 - - - - - - - - 0 - - IBM inclusion body myopathy, Paget disease (HP:0030441) 1 1 Gisela Nogales
00146423 15034582-Fam1 PubMed: Watts 2004, OMIM:var0001 6-generation family, 29 affecteds - - United States Europe - 0 - - IBMPFD - 1 29 Johan den Dunnen
00146424 15034582-Fam3 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States Europe - 0 - - IBMPFD - 1 8 Johan den Dunnen
00146425 15034582-Fam7 PubMed: Watts 2004, OMIM:var0001 3-generation family, 10 affecteds - - United States Europe - 0 - - IBMPFD - 1 10 Johan den Dunnen
00146426 15034582-Fam16 PubMed: Watts 2004, OMIM:var0001 4-generation family, 6 affecteds - - United States Europe - 0 - - IBMPFD - 1 6 Johan den Dunnen
00146427 15034582-Fam2 PubMed: Watts 2004, OMIM:var0002 6-generation family, 20 affecteds - - United States Europe - 0 - - IBMPFD - 1 20 Johan den Dunnen
00146428 15034582-Fam5 PubMed: Watts 2004, OMIM:var0002 4-generation family, 11 affecteds - - United States Europe - 0 - - IBMPFD - 1 11 Johan den Dunnen
00146429 15034582-Fam4 PubMed: Watts 2004, OMIM:var0001 4-generation family, 12 affecteds - - United States Europe - 0 - - IBMPFD - 1 12 Johan den Dunnen
00146430 15034582-Fam6 PubMed: Watts 2004, OMIM:var0003 3-generation family, 3 affecteds - - United States Europe - 0 - - IBMPFD - 1 3 Johan den Dunnen
00146431 15034582-Fam9 PubMed: Watts 2004, OMIM:var0004 5-generation family, 6 affecteds - - United States - - 0 - - IBMPFD - 1 6 Johan den Dunnen
00146432 15034582-Fam10 PubMed: Watts 2004, OMIM:var0001 5-generation family, 6 affecteds - - United States - - 0 - - IBMPFD - 1 6 Johan den Dunnen
00146433 15034582-Fam11 PubMed: Tucker 1982 5-generation family, 9 affecteds - - United States - - 0 - - IBMPFD - 1 9 Johan den Dunnen
00146434 15034582-Fam13 PubMed: Watts 2004, OMIM:var0006 4-generation family, 4 affecteds - - United States - - 0 - - IBMPFD - 1 4 Johan den Dunnen
00146435 15034582-Fam15 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States - - 0 - - IBMPFD - 1 8 Johan den Dunnen
00146436 18341608-Fam1 PubMed: Viassolo 2008 5-generation family, 8 affecteds - - Italy - - 0 - - IBMPFD - 1 8 Johan den Dunnen
00146437 16247064-FamA PubMed: Haubenberger 2005 2-generation family, 5 affecteds - - Austria - - 0 - - IBMPFD no frontotemporal dementia(>60y) 1 5 Johan den Dunnen
00146438 19704082-DR7.P4 PubMed: van der Zee 2009 4-generation family, 6 affecteds - - Belgium - - 0 - - IBMPFD clinical heterogeneity and variable penetrance 1 6 Johan den Dunnen
00146439 19704082-DR40.P2 PubMed: van der Zee 2009 2-generation family, 4 affecteds - - Belgium - - 0 - - IBMPFD clinical heterogeneity and variable penetrance 1 4 Johan den Dunnen
00146440 ? - - M - United States - - 0 - - IBM - 1 1 Tom Winder
00146441 ? - - M - United States - - 0 - - IBM - 1 1 Tom Winder
00146442 ? - - F - United States - - 0 - - IBM distal>proximal weakness; non-inflammatory IBM; myopathic EMG; CPK normal 1 1 Tom Winder
00146443 ? - - M - Australia white - 0 - - ? distal upper limb weakness and muscle wasting, late-adult onset (>70y), upper limbs alone, no FTD or Paget disease of bone; CPK normal 1 1 Robert Boland-Freitas
00146444 ? - - - no Japan Japanese - 0 - - IBMPFD able to walk, CPK 714 IU/l 1 1 Shiro Matsubara
00149281 - - - - - United States white - 0 - - IBMPFD - 1 1 Marc Cruts
00149282 - - - - - United States white (Northern European Ancestry) 69y 0 - - IBMPFD - 1 3 Marc Cruts
00149283 - - - - - United States white (Northern European Ancestry) 63y 0 - - IBMPFD - 1 7 Marc Cruts
00149284 - - No dementia - - United States white (Northern European Ancestry) - 0 - - IBMPFD - 1 1 Marc Cruts
00149285 - - - - - United States white (Northern European Ancestry) - 0 - - IBMPFD - 1 4 Marc Cruts
00149286 - - - - - United States white 64y04m 0 - - IBMPFD - 1 5 Marc Cruts
00149287 - - No dementia - - United States white - 0 - - IBMPFD - 1 1 Marc Cruts
00149288 - - - - - United States white (Scottish Ancestry) - 0 - - IBMPFD - 1 1 Marc Cruts
00149289 - - - - - United States white (Northern European Ancestry) 60y04m 0 - - IBMPFD - 1 4 Marc Cruts
00149290 - - - - - United States white (German Ancestry) - 0 - - IBMPFD - 1 3 Marc Cruts
00149291 - - No dementia - - Canada white (United Kingdom (Great Britain) Ancestry) - 0 - - IBMPFD - 1 1 Marc Cruts
00149292 - - - - - United States white - 0 - - IBMPFD - 1 1 Marc Cruts
00149293 - - - - - United States white - 0 - - IBMPFD - 1 1 Marc Cruts
00149294 - - - - - Austria white 68y10m 0 - - IBMPFD - 1 4 Marc Cruts
00149295 - - Dementia at 50 years - - Germany white 49y 0 - - IBMPFD - 1 1 Marc Cruts
00149296 - - - - - Poland white 52y 0 - - IBMPFD - 1 3 Marc Cruts
00149297 - - - - - United States white 52y 0 - - IBMPFD - 1 2 Marc Cruts
00149298 - - - - - - white - 0 - - IBMPFD - 1 1 Marc Cruts
00149299 - - - - - - white 63y10m 0 - - IBMPFD - 1 9 Marc Cruts
00149300 - - - - - Belgium white 77y09m 0 - - FTD - 1 6 Marc Cruts
00149301 - - - - - Belgium white 57y 0 - - IBMPFD - 1 4 Marc Cruts
00149302 - - Progressive cognitive impairment since late 60s - - - - - 0 - - IBMPFD - 1 1 Marc Cruts
00149303 - - - - - Italy white 58y06m 0 - - IBMPFD - 1 2 Marc Cruts
00149304 - - - - - Italy white - 0 - - IBMPFD - 1 1 Marc Cruts
00149305 - - - - - - - - 0 - - AD - 1 1 Marc Cruts
00149306 - - - - - - - - 0 - - AD - 1 1 Marc Cruts
00149307 - - - - - - - - 0 - - AD - 1 1 Marc Cruts
00149359 - - - - - Italy white 56y 0 - - IBMPFD - 1 2 Marc Cruts
00149419 - - - - - - - 75y 0 - - IBMPFD - 1 2 Marc Cruts
00149420 - - - - - - - - 0 - - IBMPFD - 1 4 Marc Cruts
00149421 - - - - - - - - 0 - - IBMPFD - 1 8 Marc Cruts
00149422 - - - - - - - - 0 - - FTD - 1 1 Marc Cruts
00149449 - - - - - Germany white 67y 0 - - ?, IBMPFD - 1 4 Marc Cruts
00149620 - - - - - - - - 0 - - - - 1 1 Marc Cruts
00149622 - - - - - France; Spain white - 0 - - IBMPFD - 1 2 Marc Cruts
00149623 - - - - - France; Spain white - 0 - - IBMPFD - 1 2 Marc Cruts
00149624 - - - - - France; Spain white - 0 - - IBMPFD - 1 2 Marc Cruts
00149625 - - - - - France; Spain white - 0 - - IBMPFD - 1 3 Marc Cruts
00149626 - - - - - France; Spain white - 0 - - IBMPFD - 1 2 Marc Cruts
00149627 - - - - - France; Spain white - 0 - - IBMPFD - 1 3 Marc Cruts
00149628 - - - - - France; Spain white - 0 - - IBMPFD - 1 1 Marc Cruts
00149629 - - - - - France; Spain white - 0 - - IBMPFD - 1 1 Marc Cruts
00149630 - - - - - France; Spain white - 0 - - IBMPFD - 1 1 Marc Cruts
00149631 - - - - - France; Spain white - 0 - - IBMPFD - 1 2 Marc Cruts
00149667 - - - - - Australia Anglo-Saxon - 0 - - IBMPFD - 1 3 Marc Cruts
00150092 - - - - - Korea Asian - 0 - - IBMPFD - 1 3 Marc Cruts
00150093 - - - - - - Asian - 0 - - MPD - 1 1 Marc Cruts
00150094 - - - - - - Asian - 0 - - IBMPFD - 1 1 Marc Cruts
00150095 - - - - - - Asian - 0 - - ? - 1 1 Marc Cruts
00150096 - - - - - - Asian - 0 - - LGMD - 1 1 Marc Cruts
00150097 - - - - - - Asian - 0 - - MPD - 1 1 Marc Cruts
00150098 - - - - - - Asian - 0 - - ? - 1 2 Marc Cruts
00222490 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222541 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222714 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00222720 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00274299 Fam1250 PubMed: Reddy 2017 2-generation family, 2 affected brothers M - United States Germany - 0 - - LGMD elevated CK level (400’s); muscle histology dystrophic; ambulatory 1 2 Johan den Dunnen
00274432 Pat209 PubMed: Park 2017 - F - Korea - - 0 - - MD proximal muscle weakness; muscle myopathic pattern with rimmed vacuoles; CK 80 IU/L; no family history 1 1 Johan den Dunnen
00289136 P5 PubMed: Evilä 2016 - - - Germany - - 0 - - MYOP distal myopathy 1 1 Johan den Dunnen
00295546 - - - F - - - - 0 - - ? Abnormality of muscle morphology (HP:0011805); Myopathy (HP:0003198) 1 1 Andreas Laner
00301388 - - - M - Germany - - 0 - - ? Pes cavus (HP:0001761); Hammertoe (HP:0001765); Peripheral axonal neuropathy (HP:0003477) 1 1 Andreas Laner
00314518 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 2 Johan den Dunnen
00376137 180400 - - M no Germany - - 0 - - IBMPFD Muscle weakness, Achilles tendon contracture, Scapuloperoneal weakness, Abnormality of the Achilles tendon, Contractures involving the joints of the feet, Family history, Past medical history 1 1 Andreas Laner
00399022 P55 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD raised serum CK 2 fold; muscle biopsy isolated fibers with rimmed vacuoles 1 1 Johan den Dunnen
00399081 P161 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK 146 U/L; muscle biopsy rimmed vacuoles; limb-girdle muscle weakness 1 1 Johan den Dunnen
00402417 P28/Myo090 PubMed: Cerino 2022 PubMed: Schiava 2022 - M no Chile hispanic - 0 - - IBM - 1 1 JA Bevilacqua
00408683 Pat19 PubMed: Thomas 2022 no family history - no France - - 0 - - NMD - 1 1 Johan den Dunnen
00413133 P76/Myo152 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - 0 - - MYOP - 1 1 Johan den Dunnen
00416525 - - - M no Chile hispanic - - - - IBM - 1 1 JA Bevilacqua
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