Disease #00414

Official abbreviation PD
Name Parkinson disease (PD)
OMIM ID 168600
Human Phenotype Ontology Project (HPO) HPO
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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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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