Genetic Defect in Thyroid Hormonogenesis 1
| Disorder | |
|---|---|
| OMIM #: | #274400 (Click to access OMIM database) |
| Disorder: | Genetic Defect in Thyroid Hormonogenesis 1 |
| Also known as: | HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1, IODINE ACCUMULATION, TRANSPORT OR TRAPPING DEFECT |
| Clinical | |
| Phenotype: | congenital hypothyroidism, growth deficiency, macroglossia, developmental delay/mental retardation, hernia, goiter, dry skin, lethargy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Hutterite | |
| Gene: | NIS, E10 region |
| Base Change: | G>A, at nucleotide 1530 |
| Amino Acid Change: | gly 395 --> arg |
| Last updated: | 2009-03-15 |
| References |
|---|
| Couch RM, Dean HJ, and Winter JS. (1985) Congenital hypothyroidism caused by defective iodide transport. J Pediatr 106(6): 950-953. PubMed ID: 3998954 |
| Kosugi S, Bhayana S, and Dean HJ. (1999) A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab 84(9): 3248-3253. PubMed ID: 10487695 |
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