Hemochromatosis classification: Difference between revisions
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(Created page with "__NOTOC__ {{Hemochromatosis}} {{CMG}} ==Overview== ==Classification== ==References== {{reflist|2}} {{WH}} {{WS}}") |
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==Overview== | ==Overview== | ||
==Classification== | ==Classification== | ||
Recently, a classification has been developed (with chromosome locations): | |||
{| class="wikitable" | |||
| '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | |||
|- | |||
| Haemochromatosis type 1: "classical"-haemochromatosis || {{OMIM2|235200}} || [[HFE (gene)|HFE]] || 6p21.3 | |||
|- | |||
| Haemochromatosis type 2A: juvenile haemochromatosis || {{OMIM2|602390}} || [[hemojuvelin]] ("HJV", also known as HFE2) || 1q21 | |||
|- | |||
| Haemochromatosis type 2B: juvenile haemochromatosis || {{OMIM2|606464}} || hepcidin antimicrobial peptide (''[[HAMP]]'') or HFE2B || 19q13 | |||
|- | |||
| Haemochromatosis type 3 || {{OMIM2|604720}} || [[transferrin receptor-2]] (TFR2 or HFE3) || 7q22 | |||
|- | |||
| Haemochromatosis type 4 [[autosomal dominant]] haemochromatosis (all others are [[Recessive gene|recessive]]), gene mutation || {{OMIM2|604653}} || [[ferroportin]] (SLC11A3) || 2q32 | |||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} |
Revision as of 12:11, 29 August 2012
Hemochromatosis Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Hemochromatosis classification On the Web |
American Roentgen Ray Society Images of Hemochromatosis classification |
Risk calculators and risk factors for Hemochromatosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
Recently, a classification has been developed (with chromosome locations):
Description | OMIM | Mutation | Locus |
Haemochromatosis type 1: "classical"-haemochromatosis | 235200 | HFE | 6p21.3 |
Haemochromatosis type 2A: juvenile haemochromatosis | 602390 | hemojuvelin ("HJV", also known as HFE2) | 1q21 |
Haemochromatosis type 2B: juvenile haemochromatosis | 606464 | hepcidin antimicrobial peptide (HAMP) or HFE2B | 19q13 |
Haemochromatosis type 3 | 604720 | transferrin receptor-2 (TFR2 or HFE3) | 7q22 |
Haemochromatosis type 4 autosomal dominant haemochromatosis (all others are recessive), gene mutation | 604653 | ferroportin (SLC11A3) | 2q32 |