Difference between revisions of "Fabry Disease 2011"

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(Disease causing mutations)
(Mutations)
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== Mutations ==
 
== 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.
 
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 ===
 
=== Reference sequence ===

Revision as of 01:54, 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.

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