Disease #05613 (PARK (Parkinson disease (PARK)))

Official abbreviation PARK
Name Parkinson disease (PARK)
OMIM ID -
Inheritance -
Individuals reported having this disease 335
Phenotype entries for this disease 334
Associated with 1 gene NOTCH2NL
Associated tissues -
Disease features -
Remarks -


Individuals

335 entries on 4 pages. Showing entries 1 - 100.
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00240397 Family 5 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 3 affected brothers M no China - - 0 - - PARK see paper; ... NOTCH2NLC NOTCH2NLC 1 3 Johan den Dunnen
00240398 Family 6 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/2 brothers M no China - - 0 - - PARK see paper; ... NOTCH2NLC NOTCH2NLC 1 3 Johan den Dunnen
00240399 Family 7 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/daughter/son (F, 2M) F;M no China - - 0 - - PARK - NOTCH2NLC NOTCH2NLC 1 3 Johan den Dunnen
00275540 FamA PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M - Canada - - 0 - - PARK see paper; ..., early-onset Parkinsonism DNAJC12 DNAJC12 1 2 Johan den Dunnen
00275541 FamB PubMed: Straniero 2017 2-generation family, affected brother/sister, unaffected parents/relatives F;M yes Italy - - 0 - - PARK see paper; ..., early-onset Parkinsonism DNAJC12 DNAJC12 1 2 Johan den Dunnen
00286192 FamAusPatII3 PubMed: Wilsoni 2014 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Australia - - 0 - - PARK normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing RAB39B CLIC2, RAB39B 1 3 Johan den Dunnen
00286193 FamAusPatII2 PubMed: Wilsoni 2014 PatII2 M - Australia - - 0 - - PARK normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 38y-tremor onset; 44y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response; hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; MRI normal; normal copper testing; normal blood count and chemistry; normal urine metabolic testing RAB39B RAB39B 1 1 Johan den Dunnen
00286194 FamAusPatII1 PubMed: Wilsoni 2014 PatII1 M - Australia - - 0 - - PARK normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 44y-tremor onset; 45y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response (with side effects); hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; dementia; no skin depigmented papules; MRI T2 weighted slight bilateral reduction signal intensity substantia nigra and globus pallidus; normal copper testing; normal blood count and chemistry; normal urine metabolic testing RAB39B RAB39B 1 1 Johan den Dunnen
00286195 FamWis PubMed: Wilsoni 2014 3-generation family, 7 affected (7M), 2 unaffected heterozygous carrier mothers M - United States - - 0 - - PARK normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; independent living; hyperactive/disruptive behaviour (1/6); 10‐20s tremor onset; 20s-parkinsonism diagnosis; postural/upper limb tremor (4/6); choreoathetosis (1/6); shuffling gait (5/6); bradykinesia; cogwheel rigidity; no L‐dopa response (3/3); hyopkinetic dysarthria; normal cerebellar function; seizures (2/6); macrocephaly; frontal bossing; normal eye examination (4/6); strabismus (1/6); iris coloboma (1/6); hydrops (1/6); high arched palate (5/6); skin depigmented papules 4/6; CT-scan megalencephaly; EEG abnormal (2/6); normal copper testing; normal blood count and chemistry; normal urine metabolic testing RAB39B RAB39B 1 7 Johan den Dunnen
00286197 Family PubMed: Mata 2016 4-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents; 5 affected males, 1 unaffected carrier male (41y) M no United States Europe - 0 - - PARK see paper; ..., bradykinesia, rigidity, resting tremor, postural instability, unilateral onset, Levodopa response(4/4), Levodopa-induced dyskinesia (3/4), mild intellectual disability (2/5) RAB39B MVP, RAB39B, USP1 3 7 Johan den Dunnen
00286198 Family PubMed: Mata 2016 2 affected/3 unaffected heterozygous carrier females F no United States Europe - 0 - - PARK see paper; ..., bradykinesia, rigidity, resting tremor (1/2), postural instability (1/2), unilateral onset, Levodopa response, Levodopa-induced dyskinesia (1/2), no mild intellectual disability RAB39B RAB39B 1 2 Johan den Dunnen
00286199 Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - 0 - - PARK - RAB39B RAB39B 1 1 Johan den Dunnen
00286200 Fam PubMed: Mata 2016 family from PaGeR cohorts, affected female (affected father not analysed F - United States - - 0 - - PARK - RAB39B RAB39B 1 1 Johan den Dunnen
00287082 Fam1PatII2 PubMed: Cen 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents (first cousins) M yes China - - 0 - - PARK see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain JAM2 JAM2 1 2 Johan den Dunnen
00287083 Fam1PatII3 PubMed: Cen 2020 sister F yes China - - 0 - - PARK see paper; ..., Parkinsonism, slurred speech, seizures; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain, pons, medulla JAM2 JAM2 1 1 Johan den Dunnen
00287084 Fam2PatII2 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousins) F yes China - - 0 - - PARK see paper; ..., numbness feet, dizziness (syncope); calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter JAM2 JAM2 1 1 Johan den Dunnen
00287085 Fam3PatII1 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - 0 - - PARK see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter, midbrain JAM2 JAM2 2 1 Johan den Dunnen
00305354 139749 - - F ? ? (unknown) - - 0 - - PARK Early onset of Parkinson's syndrome (ED 32. LJ.), positive family history (both grandfathers are affected) DSC2 DSC2 1 1 Andreas Laner
00312527 - PubMed: Kumar 2012 affected father, paternal uncle, paternal aunt, paternal grandfather all deceased M - Germany white - 0 - LDopa responsive PARK bradykinesia; resting tremor (HP:0002322); rigidity (HP:0002063); postural instability (HP:0002172); no dystonia (-HP:0001332); normal REM sleep (-HP:0002494); 60y-SCID revealed no psychiatric diagnosis; 47y-MMSE 29/30, 60y-MMSE 29/30, PANDA 17/30, MOCA 23/30; severe hyposmia, UPSIT: 10th percentile; hyperhidrosis; no pathology report, subject still alive at time of study VPS35 VPS35 1 1 The Parkinson's Institute - Birgitt Schuele
00312531 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312532 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312533 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312534 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK starts in lower limb, gait impairment, urinary urgancy,slower progression PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312535 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312536 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312538 - PubMed: Healy 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312539 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312540 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312541 - PubMed: Djarmati 2006 - - - - - - 0 - - PARK slow progr, present motor fluctuation PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312542 - PubMed: Weng 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312543 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312544 - PubMed: Djarmati 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312545 - PubMed: Leutenegger 2006 - - - Sudan - - 0 - - PARK juvenile onset AAO:9-17, clinically varying from dopa responsive dystonia to EOPD PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312546 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312547 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312548 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312549 - PubMed: Rogaeva 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312550 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312551 - PubMed: Tan 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312552 - PubMed: Tan 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312554 - PubMed: Tan 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312555 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312556 - PubMed: Klein 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312557 - PubMed: Tan 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312558 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312559 - PubMed: Savettieri 2008 - - - - - - 0 - - PARK cognitive decline PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312560 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312561 - PubMed: Christi 2006 13 heterozygous was not affected - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312562 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312563 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312564 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312565 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312566 - PubMed: Weng 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312567 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312568 - PubMed: Rogaeva 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312569 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312570 - PubMed: Li 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312571 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312572 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312573 - PubMed: Li 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312574 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312575 - PubMed: Tang 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312576 - PubMed: Tang 2006 family, two affected siblings - - China - - 0 - - PARK - PINK1 PINK1 1 2 The Parkinson's Institute - Birgitt Schuele
00312577 - PubMed: Fung 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312578 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312579 - PubMed: Mellick 2008 1 het - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312580 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312581 - PubMed: Zadikoff - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312582 - PubMed: Toft 2007 AAO:43;50; excellent ldopa respons but early dyskinesias - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312583 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312584 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312585 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312586 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312587 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312588 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312589 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312590 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312591 - {PMID16009891Bonifati 2005} - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312592 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312593 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312594 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312595 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312596 - PubMed: Rogaeva 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312597 - PubMed: Hatano 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312598 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312599 - PubMed: Toft 2007 1 case heteroz, AAO:58, slow progression, - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312600 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312601 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312602 - PubMed: Weng 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312603 - PubMed: Valente 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312604 - PubMed: Bonifati 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312605 - PubMed: Rohe 2004 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312606 - PubMed: Klein 2005 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312607 - PubMed: Ibanez 2006 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312608 - PubMed: Tan 2007 - - - - - - 0 - - PARK - PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312609 - PubMed: Marongiu 2008 - - - - - - 0 - - PARK early dyskinesias PINK1 PINK1 1 0 The Parkinson's Institute - Birgitt Schuele
00312614 - PubMed: Bonifati 2003 - - - Netherlands - - 0 - - PARK - PARK7 PARK7 1 1 The Parkinson's Institute - Birgitt Schuele
00312615 - PubMed: Hague 2003 no family history - - - Hispanic - 0 - - PARK - PARK7 PARK7 2 1 The Parkinson's Institute - Birgitt Schuele
00312616 - PubMed: Abou-Sleiman 2003 age onset at 39 - - - Ashkenazi-Jewish - 0 - - PARK - PARK7 PARK7 1 1 The Parkinson's Institute - Birgitt Schuele
00312617 - PubMed: Tang 2006 family, two affected siblings - - China - - 0 - - PARK - PARK7 PARK7 1 2 The Parkinson's Institute - Birgitt Schuele
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