Hashimoto Thyroiditis
| Disorder | |
|---|---|
| OMIM #: | %140300 (Click to access OMIM database) |
| Disorder: | Hashimoto Thyroiditis |
| Also known as: | HT, HASHIMOTO STRUMA, HYPOTHYROIDISM, AUTOIMMUNE, THYROID AUTOANTIBODIES, INCLUDED |
| Clinical | |
| Phenotype: | thyroid autoimmunity, thyroiditis, hypothyroidism |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | 5q11.2-q14.3 |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Allen EM, Hsueh WC, Sabra MM, Pollin TI, Ladenson PW, Silver KD, Mitchell BD, Shuldiner AR. (2003) A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: replication of genetic linkage on chromosome 5q11.2-q14.3. J Clin Endocrinol Metab 88(3): 1292-1296. PubMed ID: 12629121 |
| Pauls DL, Zakarija M, McKenzie JM, Egeland JA. (1993) Complex segregation analysis of antibodies to thyroid peroxidase in Old Order Amish families. Am J Med Genet Sep 1;47(3):375-9. PubMed ID: 8135284 |
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