Public Profile -- hu718EB2
Public profile url: https://my.pgp-hms.org/profile/hu718EB2
Personal Health Records
None added.Samples
None available.Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2013-01-03 | Pathway genomics | Participant | 3 Health Conditions Tested - Asthma, Breast Cancer, & SLE |
Download
(4.27 KB) |
Geographic Information
Not added.Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 9/13/2012 20:57:29. Show responses |
|---|---|
| Timestamp | 9/13/2012 20:57:29 |
| Year of birth | 40-49 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | Diagnosis of Discoid lupus erythematosus; have not yet been tested for SLE. Immediate family history includes autoimmune diseases such as non-hodgkin's lymphoma and thyroid disorders. |
| Disease/trait: Onset | 40-49 years of age |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | Yes |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | Two Skin Biopsies - Dx ICD9: 695.4 (Discoid Lupus Erythematosus) & 238.2 (Neoplasm uncertain behavior Skin). Also have preliminary results from Pathway Genomics Health Condition Report indicating three associated SLE related genes/variants: (ITGAM, rs1143679, G/G), (PTPN22, rs2476601, G/G), and (STAT4, rs7574865, T/G). |
| Sex/Gender | Female |
| Race/ethnicity | Hispanic or Latino, White |
| Maternal grandmother: Country of origin | Spain |
| Paternal grandmother: Country of origin | United States |
| Paternal grandfather: Country of origin | United States |
| Maternal grandfather: Country of origin | Spain |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | Maybe |
| Have you uploaded genetic data to your PGP participant profile? | No, but I have genetic data and plan to upload it |
| Have you used the PGP web interface to record a designated proxy? | Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | No, but I plan to |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 1/3/2013 20:26:28. Show responses |
| Timestamp | 1/3/2013 20:26:28 |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 1/3/2013 20:34:16. Show responses |
| Timestamp | 1/3/2013 20:34:16 |
| Have you ever been diagnosed with any of the following conditions? | Thyroid nodule(s), Polycystic ovary syndrome (PCOS), High cholesterol (hypercholesterolemia), High triglycerides (hypertriglyceridemia) |
| Other condition not listed here? | Autoimmunity - Discoid Lupus,MCTD, SLE ddx |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 1/3/2013 20:36:27. Show responses |
| Timestamp | 1/3/2013 20:36:27 |
| Have you ever been diagnosed with any of the following conditions? | Urinary tract infection (UTI), Fibrocystic breast disease, Ovarian cysts, Female infertility |
| Other condition not listed here? | Early Menopause |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 1/3/2013 20:38:20. Show responses |
| Timestamp | 1/3/2013 20:38:20 |
| Have you ever been diagnosed with one of the following conditions? | Hyperopia (Farsightedness), Myopia (Nearsightedness), Astigmatism, Dry eye syndrome, Tinnitus |
| Other condition not listed here? | Chronic Mastoiditis |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 1/3/2013 21:58:15. Show responses |
| Timestamp | 1/3/2013 21:58:15 |
| Have you ever been diagnosed with any of the following conditions? | Pilonidal cyst, Eczema, Allergic contact dermatitis, Psoriasis, Skin tags, Hair loss (includes female and male pattern baldness), Acne |
| Other condition not listed here? | Discoid Lesions, Precancerous Lesions, Uticaria |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 1/3/2013 22:39:52. Show responses |
| Timestamp | 1/3/2013 22:39:52 |
| Have you ever been diagnosed with any of the following conditions? | Lupus, Osteoarthritis, Spinal stenosis, Sciatica, Plantar fasciitis, Postural kyphosis |
| Other condition not listed here? | Spondylolisthesis, Pars Defect, Lordosis (Swayback) |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 1/3/2013 22:45:32. Show responses |
| Timestamp | 1/3/2013 22:45:32 |
| Have you ever been diagnosed with any of the following conditions? | Thyroid nodule(s), Polycystic ovary syndrome (PCOS), High cholesterol (hypercholesterolemia), High triglycerides (hypertriglyceridemia) |
| Other condition not listed here? | Abnormally high DHEA |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 1/3/2013 22:47:09. Show responses |
| Timestamp | 1/3/2013 22:47:09 |
| Have you ever been diagnosed with any of the following conditions? | Iron deficiency anemia |
| Other condition not listed here? | Menorrhagia |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 1/3/2013 22:53:12. Show responses |
| Timestamp | 1/3/2013 22:53:12 |
| Have you ever been diagnosed with one of the following conditions? | Cluster headaches, Migraine with aura, Other peripheral neuropathy |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Not sure
Can sing a melody on key: No
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu718EB2 |
| Account created: | 2012-09-10 16:20:58 UTC |
| Eligibility screening: | 2012-09-10 16:33:07 UTC (passed v2) |
| Exam: | 2012-09-10 17:25:06 UTC (passed v20120430) |
| Consent: | 2015-08-06 14:32:25 UTC (passed v20150505) |
| Enrolled: | 2012-09-13 00:44:18 UTC |
