Difference between revisions of "Fabry Disease 2011"
From Bioinformatikpedia
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* [http://www.genome.jp/dbget-bin/www_bget?ds:H00125 KEGG: Fabry Disease] |
* [http://www.genome.jp/dbget-bin/www_bget?ds:H00125 KEGG: Fabry Disease] |
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* [http://www.genome.jp/kegg-bin/show_pathway?hsa00603+2717 KEGG: Glycosphingolipid biosynthesis] |
* [http://www.genome.jp/kegg-bin/show_pathway?hsa00603+2717 KEGG: Glycosphingolipid biosynthesis] |
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| − | * [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: |
+ | * [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: Alpha-Galactosidase A] |
== Mutations == |
== Mutations == |
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Revision as of 01:27, 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[1])
- Fatigue
- Gastrointestinal problems
Adulthood
- Heart problems
- Kidney problems
- Nervous system problems
- Hearing problems
Cross-references
See also description of this disease in
- specific link to Wikipedia
- specific link to HGMD
- specific link to OMIM
... (see databases in "resources")
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.
