Difference between revisions of "Fabry Disease 2011"

From Bioinformatikpedia
m (Reference sequence)
(Cross-references)
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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]
 
* [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]
* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: alpha Galactosidase]
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* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: Alpha-Galactosidase A]
   
 
== Mutations ==
 
== Mutations ==

Revision as of 02:27, 15 May 2011

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

Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.

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.

Reference sequence