Disease #00414

Official abbreviation PD
Name Parkinson disease (PD)
OMIM ID 168600
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 69
Phenotype entries for this disease 51
Associated with 5 genes ADH1C, ATXN2, GBA, MAPT, TBP
Associated tissues -
Disease features -
Remarks -


Individuals

69 entries on 1 page. Showing entries 1 - 69.
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AscendingIndividual ID     
ID_report     
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Disease     
Phenotype details     
Genes screened
Variants in genes
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Owner     
00001237 - PubMed: Quadri 2013 4-generation family, affected brother/sister - yes Italy Sicily - 0 - - PD early-onset atypical Parkinsonism, no history of neurological diseases in pre-vious generations SYNJ1 SYNJ1 35 2 Marialuisa Quadri
00017890 - - - ? ? Germany - - 0 - - PD - DCTN1 DCTN1 1 1 Johan den Dunnen
00018545 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - SCAPER SCAPER 1 32 Marialuisa Quadri
00018546 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - HYDIN HYDIN 1 9 Marialuisa Quadri
00018547 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - UBE2H UBE2H 1 14 Marialuisa Quadri
00018548 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - EZR EZR 1 20 Marialuisa Quadri
00018549 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - MMRN2 MMRN2 1 9 Marialuisa Quadri
00018550 - PubMed: Quadri 2014 - - - Italy Sardinians - 0 - - PD - OGFOD1 OGFOD1 1 14 Marialuisa Quadri
00054710 - - 5-generation family, affected brother/sister, unaffected heterozygous carrier parents - yes India north india - 0 - - PD rest tremor, bradykinesia, rigidity, postural instability, drooling of saliva, intense dyskinesia and dystonia SYNJ1 SYNJ1 1 2 Thelma BK
00057182 - - - - - Norway - - 0 - - PD - APP APP 1 2 Zafar Iqbal
00057183 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057184 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057185 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057186 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057187 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057188 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057189 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057190 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057191 - - - - - Norway - - 0 - - PD - APP APP 1 5 Zafar Iqbal
00057192 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057193 - - - - - Norway - - 0 - - PD - APP APP 1 3 Zafar Iqbal
00057194 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057195 - - - - - Norway - - 0 - - PD - APP APP 1 1 Zafar Iqbal
00057196 - - - - - Norway - - 0 - - PD - FUS FUS 1 1 Zafar Iqbal
00057197 - - - - - Norway - - 0 - - PD - GRN GRN 1 1 Zafar Iqbal
00057198 - - - - - Norway - - 0 - - PD - GRN GRN 1 1 Zafar Iqbal
00057199 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 1 Zafar Iqbal
00057200 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 3 Zafar Iqbal
00057201 - - - - - Norway - - 0 - - PD - PTPRF PTPRF 1 3 Zafar Iqbal
00057202 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 3 Zafar Iqbal
00057203 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 2 Zafar Iqbal
00057204 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 1 Zafar Iqbal
00057205 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 1 Zafar Iqbal
00057206 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 5 Zafar Iqbal
00057207 - - - - - Norway - - 0 - - PD - MAPT MAPT 1 1 Zafar Iqbal
00057208 - - - - - Norway - - 0 - - PD - PSEN1 PSEN1 1 1 Zafar Iqbal
00057209 - - - - - Norway - - 0 - - PD - PSEN1 PSEN1 1 12 Zafar Iqbal
00057210 - - - - - Norway - - 0 - - PD - PSEN1 PSEN1 1 1 Zafar Iqbal
00057211 - - - - - Norway - - 0 - - PD - PSEN1 PSEN1 1 1 Zafar Iqbal
00057212 - - - - - Norway - - 0 - - PD - PSEN2 PSEN2 1 2 Zafar Iqbal
00057213 - - - - - Norway - - 0 - - PD - PSEN2 PSEN2 1 1 Zafar Iqbal
00057214 - - - - - Norway - - 0 - - PD - PSEN2 PSEN2 1 1 Zafar Iqbal
00057215 - - - - - Norway - - 0 - - PD - PSEN2 PSEN2 1 1 Zafar Iqbal
00057216 - - - - - Norway - - 0 - - PD - TARDBP TARDBP 1 1 Zafar Iqbal
00065163 26942284-FamA-PatV2 PubMed: Lesage 2016, Journal: Lesage 2016 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - >54y 0 - - PD depression (HP:0000716), asymmetric akinetic rigid syndrome, no dystonia (-HP:0007325), no dyskinesia (-HP:0100660), early mental deterioration (HP:0001268), spatial disorientation (HP:0001289), slurred speech (HP:0001350), hallucinations (HP:0000738), dysautonomia (HP:0002459), urinary incontinence (HP:0000020), loss of speech (HP:0002371), Apathy (HP:0000741), Dysphagia (HP:0002015), Cachexia (HP:0004326), hyperactive deep tendon reflexes (HP:0006801), no pyramidal syndrome (-HP:0002071), asymmetric atrophy in frontal, parietal and temporal areas at expense of left side (HP:0002283) VPS13C VPS13C 1 1 Pieter Klap
00065167 26942284-FamBPatII1 PubMed: Lesage 2016, Journal: Lesage 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no France - 49y 0 - - PD asymetric akineto rigid syndrome, Resting tremor (HP:0002322), limb dystonia (HP:0002451), dyskinesia (HP:0100660), mental deterioration (HP:0001268), dysautonomia (HP:0002459), pyramidal syndrome (HP:0002071), limb atrophy (HP:0007126); death due to aspiration pneumonia (HP:0011951) VPS13C VPS13C 2 1 Pieter Klap
00065171 26942284 II-1- Family C PubMed: Lesage 2016, Journal: Lesage 2016 2-generation family, 1 affected, unaffected non-carrier mother (father deceased) F no France - >25y 0 - - PD asymetric akineto rigid syndrome, limb dystonia (HP:0002451), no dyskinesia (HP:0100660), mental deterioration (HP:0001268), slurred speech (HP:0001350), spastic tetraplegia (HP:0002510), normal MRI VPS13C VPS13C 2 1 Pieter Klap
00104581 17568014-FamFPD-116 PubMed: Charles 2007 3-generation family, 2 affecteds (2M) and 1 possibly affeted (M) M no France - - 0 - - PD see paper; ... ATXN2 ATXN2 1 2 Johan den Dunnen
00104582 17568014-FamSAL-755 PubMed: Charles 2007 4-generation family, 4 affecteds (3F, M) F;M no France - - 0 - - PD see paper; ... ATXN2 ATXN2 1 4 Johan den Dunnen
00104583 17568014-FamSAL-722 PubMed: Charles 2007 3-generation family, 8 affecteds (3F, 5M) F;M no France - - 0 - - PD see paper; ... ATXN2 ATXN2 1 8 Johan den Dunnen
00104584 10993999-FamPat3004 PubMed: Gwinn-Hardy 2000 5-generation family, 9 affecteds (2F, 7M) M no Taiwan Chinese - 0 - - PD see paper; ..., mixed from prominent parkinsonism (with or without dopamine responsiveness and with little or no cerebellar findings) to less predominate cerebellar findings, with less parkinsonism ATXN2 ATXN2 2 9 Johan den Dunnen
00148839 - PubMed: Miravalle L 2002 PubMed: Takao M 2002 - - - Japan Asian 48y 0 - - AD, PD - PSEN1 PSEN1 1 2 Marc Cruts
00148853 - PubMed: Jimenez-Escrig A 2002 PubMed: Jimenez-Escrig A 2002 - - - Spain Caucasian 42y 0 - - AD, PD Subcortical atrophy PSEN1 PSEN1 1 4 Marc Cruts
00148909 - - - - - Japan Asian 53y06m 0 - - FTD, PD - MAPT MAPT 1 2 Marc Cruts
00148915 - - - - - Japan Asian - 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00148917 - - - - - - Caucasian 34y06m 0 - - FTD, PD Epileptic Seizures MAPT MAPT 1 3 Marc Cruts
00148956 - - - - - - Caucasian - 0 - - FTD, PD - MAPT MAPT 1 2 Marc Cruts
00148962 - - - - - - - - 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00148964 - - - - - United Kingdom (Great Britain) Caucasian 42y 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00148965 - - - - - Japan Asian 54y 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00148993 - - - - - United States - - 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00149013 - - - - - Australia Caucasian 60y04m 0 - - FTD, PD - MAPT MAPT 1 1 Marc Cruts
00149027 - - Reduced penetrance possible - - - - 60y 0 - - ?, PD - MAPT MAPT 1 3 Marc Cruts
00149047 - - - - - France Caucasian - 0 - - PD - MAPT MAPT 1 1 Marc Cruts
00149238 - - - - - Italy Caucasian 82y 0 - - AD, PD - PSEN2 PSEN2 1 3 Marc Cruts
00149437 - - - - - France Caucasian 71y10m 0 - - FTD, PD - GRN GRN 1 2 Marc Cruts
00149439 - - - - - - Caucasian (Belgian) - 0 - - PD - GRN GRN 1 1 Marc Cruts
00149440 - - - - - - Caucasian - 0 - - PD - GRN GRN 1 1 Marc Cruts
00210052 PD821 PubMed: Vadgama 2019, Journal: Vadgama 2019 - M - - - - 0 - - PD - - HTR6, UNC5C 2 1 Nirmal Vadgama
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