Difference between revisions of "Fabry Disease 2011"
From Bioinformatikpedia
(→α-galactosidase A) |
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=== Gene === |
=== Gene === |
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| + | ==== Cross-references ==== |
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| + | * [http://www.ncbi.nlm.nih.gov/gene/2717 NCBI: GLA gene] |
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| + | * [http://www.ncbi.nlm.nih.gov/omim/300644 OMIM: GLA] |
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=== Protein === |
=== Protein === |
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| − | === Cross-references === |
+ | ==== Cross-references ==== |
* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: α-Galactosidase A] |
* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: α-Galactosidase A] |
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* [http://www.rcsb.org/pdb/explore/explore.do?pdbId=1r46 PDB: 1R46] |
* [http://www.rcsb.org/pdb/explore/explore.do?pdbId=1r46 PDB: 1R46] |
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Revision as of 15:01, 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.
