Hereditary hemochromatosis
| Disorder | |
|---|---|
| OMIM #: | #235200 (Click to access OMIM database) |
| Disorder: | Hereditary hemochromatosis |
| Also known as: | |
| Clinical | |
| Phenotype: | cardiomyopathy, arrhythmia, cardiomegaly, heart failure, abdominal pain, ascites, hepatomegaly, cirrhosis, splenomegaly, infertility, genitourinary abnormalities, telangeictases, alopecia, diabetes mellitus, hypogonadism, increased transaminases |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | HFE |
| Base Change: | C>G, at nucleotide 187 |
| Amino Acid Change: | his 63 --> asp |
| 2 Unknown / Other Mennonite | |
| Gene: | HFE |
| Base Change: | G>A, at nucleotide 845 |
| Amino Acid Change: | cys 282 --> tyr |
| Last updated: | 2022-11-04 |
| References |
|---|
| Hinckley JD, Abbott DM, Burns TL, Heiman M, Shapiro AD, Wang K, Di Paola J. (2013) Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits. Mol Genet Genomic Med 1(3): 131-141. PubMed ID: 24058921 |
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