Difference between revisions of "Fabry Disease 2011"
From Bioinformatikpedia
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* Eye abnormalities |
* Eye abnormalities |
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==== Adolescence ==== |
==== Adolescence ==== |
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+ | * Dark red skin rashes ([http://en.wikipedia.org/wiki/Angiokeratoma angiokeratomas]) |
* Fatigue |
* Fatigue |
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* Gastrointestinal problems |
* Gastrointestinal problems |
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==== Adulthood ==== |
==== Adulthood ==== |
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* Heart problems |
* Heart problems |
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Revision as of 14:48, 15 May 2011
Contents
Summary
Phenotype
Symptoms
As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive.
Childhood
- Pain and burning in the hands and feet
- Impaired sweating
- Psychological and social issues
- Low tolerance for exercise
- Eye abnormalities
Adolescence
- Dark red skin rashes (angiokeratomas)
- Fatigue
- Gastrointestinal problems
Adulthood
- Heart problems
- Kidney problems
- Nervous system problems
- Hearing problems
Cross-references
See also description of this disease in
... (see databases in "resources")
α-galactosidase A
Gene
Protein
Cross-references
Biochemical disease mechanism
Cross-references
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
