Difference between revisions of "Fabry Disease 2011"

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== Biochemical disease mechanism ==
 
== Biochemical disease mechanism ==
 
[[Image:Fabry_disease_glycosphingolipid_pathway.png|thumb|right|Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.]]
 
[[Image:Fabry_disease_glycosphingolipid_pathway.png|thumb|right|Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.]]
[[Image:Fabry_disease_alpha_galactosidase_gl3_to_gl2.png|thumb|right|Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.]]
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[[Image:Fabry_disease_alpha_galactosidase_gl3_to_gl2.jpg|thumb|right|Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.]]
 
=== Cross-references ===
 
=== Cross-references ===
 
* [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]

Revision as of 01:31, 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.
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