Difference between revisions of "Fabry Disease 2011"

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(Undo revision 360 by Drexler (Talk))
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* specific link to OMIM
 
* specific link to OMIM
 
... (see [[Resource data|databases in "resources"]])
 
... (see [[Resource data|databases in "resources"]])
 
== α-galactosidase A ==
 
 
=== Cross-references ===
 
* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: α-Galactosidase A]
 
   
 
== Biochemical disease mechanism ==
 
== Biochemical disease mechanism ==
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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: α-Galactosidase A]
   
 
== Mutations ==
 
== Mutations ==

Revision as of 02:54, 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.
The hydrolysation of globotriaosylceramide (GL3) to lactosylceramide (GL2) and galactose is catalyzed by the protein α-galactosidase A.

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