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. 9/4/22 9/4/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 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
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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])
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