Hemochromatosis 2011
Contents
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. Some of them are listed below.
- decoloration/darkening of skin (also known as 'bronzening')
- weakness
- fatigue
- arthritis (iron in joints)
- loss of weight
- loss of body hair
- loss of sexual energy
- liver cirrhosis
Cross-references
The disesase is also described in detail at
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
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.
