Thyroid Dyshormonogenesis 2A
| Disorder | |
|---|---|
| OMIM #: | #274500 (Click to access OMIM database) |
| Disorder: | Thyroid Dyshormonogenesis 2A |
| Also known as: | HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A IODIDE PEROXIDASE DEFICIENCY THYROID PEROXIDASE DEFICIENCY THYROID HORMONE ORGANIFICATION DEFECT II TOTAL IODIDE ORGANIFICATION DEFECT, INCLUDED TIOD, INCLUDED |
| Clinical | |
| Phenotype: | complete iodide organification defect, hypothyroidism, developmental delay, large goiter |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | TPO |
| Base Change: | G>A, at nucleotide 2395 |
| Amino Acid Change: | glu 799 --> lys |
| 2 Amish | |
| Gene: | TPO |
| Base Change: | G>A, at nucleotide 1943 |
| Amino Acid Change: | arg 648 --> gln |
| Last updated: | 2022-11-12 |
| References |
|---|
| Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, and Refetoff S. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab 84(3): 1061-1071. PubMed ID: 10084596 |
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