Tay-Sachs Disease 2011

Summary

The Tay-Sachs disease (TSD) is a rare autosomal, recessive genetic disorder which is caused by accumulation of lipids in the brain. This leads to the cell death of those neurons. There exist three different variations of the TSD. The most common one is the Infantile Tay-Sachs disease which affects death of the children under the age of 5. The two other variants are the Juvenile and Adult/Late Onset TSD, which are less aggressive. The disease causes a deterioration of mental and physical abilities. Sadly, there currently exists no treatment.

Phenotype

Phenotypic description of the disease.

(Describe this in your own words, avoid plagiarism. Summarise the information from different sources.)

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

The example protein is involved in the example pathway...

Ideally, include a graphical pathway representation like this one:

Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes

(see above: own words, no plagiarism)

Cross-references

• link to KEGG
• link to MetaCyc

... see databases in "resources"

Mutations

Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.

Reference sequence

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

• Create a page for the reference sequence. -- These sequence pages will be the starting point for collecting prediction results and result discussions.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.