Difference between revisions of "Fabry Disease 2011"

From Bioinformatikpedia
(Reference sequence)
(Neutral mutations)
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* [[alpha_galactosidase_reference_amino_acid|amino acid sequence]]
 
* [[alpha_galactosidase_reference_amino_acid|amino acid sequence]]
   
  +
=== Neutral mutations ===
 
* [[example_sequence|Create one page per mutated sequence]].
 
   
 
=== Disease causing mutations ===
 
=== Disease causing mutations ===

Revision as of 01:40, 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.

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


Disease causing mutations