Difference between revisions of "Fabry Disease 2011"

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=== Cross-references ===
=== Cross-references ===
* [http://www.genome.jp/dbget-bin/www_bget?ds:H00125 KEGG: Fabry Disease]
* link to KEGG
* [http://www.genome.jp/kegg-bin/show_pathway?hsa00603+2717 KEGG: Glycosphingolipid biosynthesis]
* link to MetaCyc
* [http://biocyc.org/META/NEW-IMAGE?type=ENZYME&object=CPLX-8228 MetaCyc: alpha Galactosidase]
... see [[Resource data|databases in "resources"]]
== Mutations ==
== Mutations ==

Revision as of 23:52, 14 May 2011




As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive.


  • Pain and burning in the hands and feet
  • Impaired sweating
  • Psychological and social issues
  • Low tolerance for exercise
  • Eye abnormalities


  • Dark red skin rashes (angiokeratomas[1])
  • Fatigue
  • Gastrointestinal problems


  • Heart problems
  • Kidney problems
  • Nervous system problems
  • Hearing problems


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



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.

Note: Currently (13.5.) you only need to care about the reference sequence pages. -- At a later stage we will assign mutations we expect you to work on. Then, it will make sense to create on page per mutation that is assigned to you.

Reference sequence

Which sequence does not cause the disease and is most often found in the population.

Neutral mutations

Disease causing mutations