eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | thyroid hypoplasia |
| Symptom | C0010308|congenital hypothyroidism |
| Sentences | 6 |
| PubMedID- 25146893 | Results: a new heterozygous nucleotide substitution was detected in the pax8 dna-binding motif (c.397c/t, r133w) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. |
| PubMedID- 21448332 | thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for rubinstein-taybi syndrome. |
| PubMedID- 24499175 | A new mutation in the promoter region of the pax8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with down's syndrome. |
| PubMedID- 21048839 | Loss-of-function mutations of the pax8 gene are considered to mainly cause congenital hypothyroidism (ch) due to thyroid hypoplasia. |
| PubMedID- 21513912 | The phenotypic expressivity of tsh resistance is highly variable going from severe congenital hypothyroidism (ch) with thyroid hypoplasia to mild hyperthyrotropinemia (hypertsh) associated with an apparent euthyroid state. |
| PubMedID- 20718765 | Design: the pax8 gene was sequenced in a mother and child both suffering from congenital hypothyroidism (ch) because of thyroid hypoplasia. |
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