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PGP Participant Survey
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Responses submitted 10/23/2011 6:22:18.
Show responses
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| Timestamp |
10/23/2011 6:22:18 |
| Year of birth |
30-39 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. |
Waardenburg Syndrome - my symptoms are deafness in left ear, pre-mature grey hair and wide set eyes.
From Pub Med Health:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002401/
Waardenburg syndrome
Klein-Waardenburg syndrome; Waardenburg-Shah syndrome
Last reviewed: August 4, 2011.
Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.
Causes, incidence, and risk factors
Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty gene for a child to be affected.
There are four main types of Waardenburg syndrome. The most common are Type I and Type II.
Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.
The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.
Symptoms
Symptoms may include:
Cleft lip (rare)
Constipation
Deafness(more common in type II disease)
Extremely pale blue eyes or eye colors that don't match (heterochromia)
Pale color skin, hair, and eyes (partial albinism)
Difficulty completely straightening joints
Possible slight decrease in intellectual function
Wide-set eyes (in Type I)
White patch of hair or early graying of the hair
Less common types of this disease may cause problems with the arms or intestines.
Signs and tests
Tests may include:
Audiometry
Bowel transit time
Colon biopsy
Genetic testing
Treatment
There is no specific treatment. Symptoms will be treated as appropriate. Special diets and medicines to keep the bowel moving are prescribed to those patients who have constipation.
Expectations (prognosis)
Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.
Complications
Constipation severe enough to require part of large bowel to be removed
Hearing loss
Self-esteem problems, or other problems related to appearance
Slight decreased intellectual functioning (possible, unusual)
Slight increased risk for muscle tumor called rhabdomyosarcoma
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| Disease/trait: Onset |
Congenital / present at birth |
| Disease/trait: Rarity |
Very rare/uncommon |
| Disease/trait: Severity |
Low severity disease |
| Disease/trait: Relative enrollment |
Maybe |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
No |
| Sex/Gender |
Male |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
Yes |
| Enrollment of parents |
No |
| Have you uploaded genetic data to your PGP participant profile? |
No, I have no genetic data. |
| Have you used the PGP web interface to record a designated proxy? |
No |
| 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 |
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PGP Trait & Disease Survey 2012: Vision and hearing
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Responses submitted 2/4/2013 9:33:58.
Show responses
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| Timestamp |
2/4/2013 9:33:58 |
| Have you ever been diagnosed with one of the following conditions? |
Sensorineural hearing loss or congenital deafness |
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PGP Trait & Disease Survey 2012: Cancers
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Responses submitted 2/5/2013 9:13:48.
Show responses
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| Timestamp |
2/5/2013 9:13:48 |
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PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity
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Responses submitted 2/5/2013 9:14:22.
Show responses
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| Timestamp |
2/5/2013 9:14:22 |
| Have you ever been diagnosed with any of the following conditions? |
Lactose intolerance, High cholesterol (hypercholesterolemia) |
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PGP Trait & Disease Survey 2012: Blood
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Responses submitted 2/5/2013 9:14:42.
Show responses
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| Timestamp |
2/5/2013 9:14:42 |
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PGP Trait & Disease Survey 2012: Nervous System
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Responses submitted 2/5/2013 9:15:20.
Show responses
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| Timestamp |
2/5/2013 9:15:20 |