0 Ratings
ID

45156

Description

Principal Investigator: Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA MeSH: Parkinson Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000376 We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.

Link

dbGaP study = phs000376

Keywords

Versions (2)
  1. 2022-09-04 2022-09-04 - Simon Heim
  2. 2022-10-12 2022-10-12 - Adrian Schulz
Copyright Holder

Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA

Uploaded on

12 oktober 2022

DOI

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License

Creative Commons BY 4.0
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    dbGaP phs000376 Whole Exome Sequencing in Familial Parkinson Disease

    English

    Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.

    6 forms  
    pht002309
    Description

    pht002309

    Unique, de-identified ID number
    Description

    SUBJID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2346787
    UMLS CUI [1,2]
    C2348585
    Year of birth of subject
    Description

    YOB

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2826771
    Sex of subject
    Description

    SEX

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Age of onset of Parkinson disease symptoms
    Description

    AOO

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0150907
    UMLS CUI [1,2]
    C0030567
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Asymmetric onset of symptoms]
    Description

    ASYMMETRIC_ONSET

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0332514
    UMLS CUI [1,6]
    C0332162
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Bradykinesia]
    Description

    BRADYKINESIA

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0233565
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Resting tremor]
    Description

    RESTING_TREMOR

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0234379
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Postural instability]
    Description

    POSTURAL_INSTABILITY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C1843921
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Rigidity]
    Description

    RIDGIDITY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0858572
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Gait difficulties]
    Description

    GAIT_DIFFICULTIES

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0751837
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Marked response to dopamine replacement]
    Description

    MARKED_DOP_REPLACEMENT_RESPONSE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0521982
    UMLS CUI [1,6]
    C0178601
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Stroke or stepwise progression]
    Description

    STROKE_OR_STEPWISE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0948008
    UMLS CUI [1,6]
    C0242656
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Head injury]
    Description

    HEAD_INJURY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0018674
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Encephalitis]
    Description

    ENCEPHALITIS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0014038
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Oculogyric crisis]
    Description

    OCULAGYRIC_CRISIS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0085637
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Sustained remission]
    Description

    SUSTAINED_REMISSION

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0814128
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Supranuclear Gaze Palsy
    Description

    SUPEANUCLEAR_GAZE_PALSY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C1720037
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Cerebellar Signs
    Description

    CEREBELLAR_SIGNS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0742038
    Does the subject have a history of or present at this visit with the following signs or symptoms?
    Description

    NEUROLEPTIC_TMT_AT_SYMPTOM_ONSET

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Dysautonomia]
    Description

    DYSAUTONOMIA

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0013363
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Memory Loss]
    Description

    MemoryLoss

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0751295
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Activation tremor]
    Description

    ACTIVATION_TREMOR

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C1879547
    UMLS CUI [1,6]
    C0040822
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Hallucinations
    Description

    HALLUCINATIONS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1457887
    UMLS CUI [1,2]
    C0150312
    UMLS CUI [1,3]
    C1512346
    UMLS CUI [1,4]
    C0262926
    UMLS CUI [1,5]
    C0018524
    Subject's report of handedness
    Description

    HANDEDNESS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2700446
    UMLS CUI [1,2]
    C0023114
    Subject's report of smoking history
    Description

    SMOKING_HISTORY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2700446
    UMLS CUI [1,2]
    C1519384
    Subject's Mental Status Exam score
    Description

    MMSE

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0872227
    Subject's Hoehn and Yahr score
    Description

    H_and_Y

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C4274823
    Ethnicity of subject
    Description

    Ethnicity

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0015031
    Race of subject
    Description

    Race

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0034510
    Back to the top of the page

    Similar models

    Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.

    6 forms
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht002309
    SUBJID
    Item
    Unique, de-identified ID number
    text
    C2346787 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    YOB
    Item
    Year of birth of subject
    text
    C2826771 (UMLS CUI [1,1])
    SEX
    Item
    Sex of subject
    text
    C0079399 (UMLS CUI [1,1])
    Item
    Age of onset of Parkinson disease symptoms
    text
    C0150907 (UMLS CUI [1,1])
    C0030567 (UMLS CUI [1,2])
    AOO
    Code List
    Age of onset of Parkinson disease symptoms
    CL Item
    unknown (9999)
    ASYMMETRIC_ONSET
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Asymmetric onset of symptoms]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0332514 (UMLS CUI [1,5])
    C0332162 (UMLS CUI [1,6])
    BRADYKINESIA
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Bradykinesia]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0233565 (UMLS CUI [1,5])
    RESTING_TREMOR
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Resting tremor]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0234379 (UMLS CUI [1,5])
    POSTURAL_INSTABILITY
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Postural instability]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C1843921 (UMLS CUI [1,5])
    RIDGIDITY
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Rigidity]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0858572 (UMLS CUI [1,5])
    GAIT_DIFFICULTIES
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Gait difficulties]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0751837 (UMLS CUI [1,5])
    MARKED_DOP_REPLACEMENT_RESPONSE
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Marked response to dopamine replacement]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0521982 (UMLS CUI [1,5])
    C0178601 (UMLS CUI [1,6])
    STROKE_OR_STEPWISE
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Stroke or stepwise progression]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0948008 (UMLS CUI [1,5])
    C0242656 (UMLS CUI [1,6])
    HEAD_INJURY
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Head injury]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0018674 (UMLS CUI [1,5])
    ENCEPHALITIS
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Encephalitis]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0014038 (UMLS CUI [1,5])
    OCULAGYRIC_CRISIS
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Oculogyric crisis]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0085637 (UMLS CUI [1,5])
    SUSTAINED_REMISSION
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Sustained remission]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0814128 (UMLS CUI [1,5])
    SUPEANUCLEAR_GAZE_PALSY
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Supranuclear Gaze Palsy
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C1720037 (UMLS CUI [1,5])
    CEREBELLAR_SIGNS
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Cerebellar Signs
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0742038 (UMLS CUI [1,5])
    NEUROLEPTIC_TMT_AT_SYMPTOM_ONSET
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms?
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    DYSAUTONOMIA
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Dysautonomia]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0013363 (UMLS CUI [1,5])
    MemoryLoss
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Memory Loss]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0751295 (UMLS CUI [1,5])
    ACTIVATION_TREMOR
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms? [Activation tremor]
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C1879547 (UMLS CUI [1,5])
    C0040822 (UMLS CUI [1,6])
    HALLUCINATIONS
    Item
    Does the subject have a history of or present at this visit with the following signs or symptoms?: Hallucinations
    string
    C1457887 (UMLS CUI [1,1])
    C0150312 (UMLS CUI [1,2])
    C1512346 (UMLS CUI [1,3])
    C0262926 (UMLS CUI [1,4])
    C0018524 (UMLS CUI [1,5])
    HANDEDNESS
    Item
    Subject's report of handedness
    string
    C2700446 (UMLS CUI [1,1])
    C0023114 (UMLS CUI [1,2])
    SMOKING_HISTORY
    Item
    Subject's report of smoking history
    string
    C2700446 (UMLS CUI [1,1])
    C1519384 (UMLS CUI [1,2])
    Item
    Subject's Mental Status Exam score
    text
    C0872227 (UMLS CUI [1,1])
    MMSE
    Code List
    Subject's Mental Status Exam score
    CL Item
    unknown (9999)
    Item
    Subject's Hoehn and Yahr score
    text
    C4274823 (UMLS CUI [1,1])
    H_and_Y
    Code List
    Subject's Hoehn and Yahr score
    CL Item
    unknown (9999)
    Ethnicity
    Item
    Ethnicity of subject
    text
    C0015031 (UMLS CUI [1,1])
    Race
    Item
    Race of subject
    text
    C0034510 (UMLS CUI [1,1])
    Back to the top of the page 

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