Familial dysalbuminemic hyperthyroxinemia
| Disorder | |
|---|---|
| OMIM #: | #615999 (Click to access OMIM database) |
| Disorder: | Familial dysalbuminemic hyperthyroxinemia |
| Also known as: | FDH, EUTHYROID HYPERTHYROXINEMIA 1 |
| Clinical | |
| Phenotype: | elevated serum thyroxine, elevated free-thyroxine index, hyperthyroidism refractory to treatment |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant/recessive |
| Mutations | |
| 1 | |
| Gene: | ALB |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Weiss RE, Sunthornthepvarakul T, Angkeow P, Marcus-Bagley D, Cox N, Alper CA, Refetoff S. (1995) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab 116-121. PubMed ID: 7829599 |
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