Juvenile hemochromatosis, type 2A
| Disorder | |
|---|---|
| OMIM #: | #602390 (Click to access OMIM database) |
| Disorder: | Juvenile hemochromatosis, type 2A |
| Also known as: | Hemochromatosis, type 2A HFE2A |
| Clinical | |
| Phenotype: | hypogonadism, cardiomyopathy, increased serum iron, complications due to iron overload, including cirrhosis, hepatic fibrosis, cardiac disease, endocrine failure, arthropathy, and hyperpigmented skin |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | HJV |
| Base Change: | T>A, at nucleotide 1097 |
| Amino Acid Change: | leu 366 --> term |
| Last updated: | 2022-11-05 |
| References |
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