Hemochromatosis 2011

Summary

The example disease causes the example syndrome.

Hemochromatosis is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen. It was first describted by Armand Trousseau in 1865 in a report about diabetes.

Phenotype

Hemochromatosis causes different symptoms like skin discoloration and liver cirrhosis.

Cross-references

The disesase is also described in detail at

• Wikipedia
• HGMD
• OMIM
• PubMed
• MedlinePlus
• NDDIC
• The Hemochromatosis Information Center

Biochemical disease mechanism

The example protein is involved in the example pathway... 'Ideally, include a graphical pathway representation like this one:'

'(see above: own words, no plagiarism)'

Cross-references

Links to proteins that are involved in causing the disease

• KEGG at Hemochromatosis
• UniProt at Hemochromatosis Protein (HLA-H)
• UniProt at Hepcidin (HAMP)
• UniProt at (Sero)transferrin (TF)
• UniProt at Transferrin receptor protein 1 (TFR)
• UniProt at Transferrin receptor protein 2 (TF2)

HEF-Gene

Source: http://www.pdb.org/pdb/explore/explore.do?structureId=1A6Z

The HFE-Gen alleviate the binding of transferrin which is the carrier protein for iron in the blood cyclus. With a mutated HFE-Gen, the intestines interpret a strong transferrin signal as an deficient in iron. Therefore the cells start to import iron, which leads to an iron overload.

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

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

• Create a page for the reference sequence.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.