Difference between revisions of "Fabry Disease 2011"
From Bioinformatikpedia
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* [http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm NINDS] |
* [http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm NINDS] |
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* [http://ghr.nlm.nih.gov/condition/fabry-disease GHR] |
* [http://ghr.nlm.nih.gov/condition/fabry-disease GHR] |
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| + | * [http://www.ncbi.nlm.nih.gov/books/NBK1292/ NCBI Bookshelf] |
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... (see [[Resource data|databases in "resources"]]) |
... (see [[Resource data|databases in "resources"]]) |
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Revision as of 15:06, 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
Cross-references
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.
