Difference between revisions of "Fabry Disease 2011"
From Bioinformatikpedia
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* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GLA HGMD] |
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GLA HGMD] |
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* [http://www.ncbi.nlm.nih.gov/omim/301500 OMIM:Fabry Disease] |
* [http://www.ncbi.nlm.nih.gov/omim/301500 OMIM:Fabry Disease] |
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| − | * [http://www.ncbi.nlm.nih.gov/omim/300644 OMIM:ALPHA-GALACTOSIDASE A] |
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* [http://www.ncbi.nlm.nih.gov/pubmed?term=Fabry%20Disease PubMed] |
* [http://www.ncbi.nlm.nih.gov/pubmed?term=Fabry%20Disease PubMed] |
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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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Revision as of 15:20, 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
The protein α-galactosidase A is encoded by the gene GLA, which is locacted on the X chromosome (gene map locus: Xq22). The gene has an overall length of 10,222 nucleotides and consist of 7 exons (1,290 nucleotides) and 6 introns (8,932 nucleotides).
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.
