Table 5.
THYROID DISORDERS
| Disease | Gene | H | OMIM | Phenotype |
|---|---|---|---|---|
| Hyperthyroidism, nonautoimmune | TSHR | AD |
*603372 #609152 |
Activating mutation, low birth weight, tachycardia, goiter |
| Hypothyroidism, athyroidal with spiky hair and cleft Palate (Bamforth-Lazarus syndrome) | FOXE1 (TTF-2) | AR |
*602617 #241850 |
Kinky hair, cleft palate, choanal atresia, bifid epiglottis |
| POU1F1 (PIT1) | AD/AR |
*173110 #613038 |
See “Hypopituitarism (combined pituitary hormone deficiency)” | |
| PROP1 | AR |
*601538 #262600 |
See “Hypopituitarism (combined pituitary hormone deficiency)” | |
| Hypothyroidism, congenital with choreoathetosis, with or without pulmonary dysfunction | NKX2-1 (TTF-1) | AD |
*600635 #610978 |
Brain-lung-thyroid syndrome: choreoathetosis, ataxia, hypotonia, respiratory distress syndrome |
| Hypothyroidism, congenital with neonatal diabetes mellitus | GLIS3 | AR |
*610192 #610199 |
Neonatal DM, congenital glaucoma, deafness |
| Hypothyroidism, congenital, nongoitrous | TSHR | AR |
*603372 #275200 |
TSH resistance, variable severity ranging from asymptomatic to euthyroidism to hypothyroidism |
| PAX8 | AR/Sp |
*167415 #218700 |
Hypothermia, lethargy, umbilical hernia, hoarse cry, macroglossia | |
| TSHB | AR |
*188540 #275100 |
Growth retardation, depressed nasal bridge, macroglossia, umbilical hernia, hoarse cry | |
| NKX2-5 | AD |
*600584 #225250 |
Severe growth retardation, heart defects, kidney disease, liver disease | |
| THRA | AD |
*190120 #614450 |
Growth retardation, macrocephaly, macroglossia, low resting heart rate, hypotonia | |
| Thyroid carcinoma | NTRK1 | AD |
*191315 #155240 |
Medullary thyroid carcinoma |
| RET | AD |
*164761 #155240 |
||
| Thyroid dyshormonogenesis | SLC5A5 | AR |
*601843 #274400 |
Thyroid iodine accumulation defect, goiter, thyroid nodules, macroglossia, growth retardation |
| TPO | AR |
*606765 #274500 |
Defective oxidation and organification of iodide, goiter | |
| SLC26A4 | AR |
*605646 #274600 |
Pendred syndrome, thyroid hormone organification defect, sensorineural deafness, vestibular function defect, cochlear malformation, goiter, thyroid carcinoma | |
| TG | AR |
*188450 #274700 |
Thyroid hormone coupling defect with iodide trapping, goiter, thyroid cancer | |
| IYD | AR |
*612025 #274800 |
Iodotyrosine deiodinase deficiency, goiter, growth retardation | |
| DUOXA2 | AR |
*612772 #274900 |
Thyroglobulin synthesis defect, goiter | |
| DUOX2 | AR |
*606759 #607200 |
Iodide organification defect | |
| Thyroid hormone resistance, generalized (GRTH) | THRB | AD |
*190160 #188570 |
Goiter, speech delay, attention deficit/hyperactivity disorder |
| Thyroid hormone resistance, generalized (Refetoff Syndrome, GRTH) | THRB | AR |
*190160 #274300 |
Goiter, deafness, stippled epiphyses, exophthalmos |
| Thyroid hormone resistance, selective pituitary (PRTH) | THRB | AD |
*190160 #145650 |
Selective pituitary resistance, hyperthyroidism |
| T3 Resistance (Allan-Herndon-Dudley syndrome, AHDS) | SLC16A2 | X |
*300095 #300523 |
Microcephaly, elongated face, bitemporal narrowing, hypotonia, developmental delay, involuntary movements, joint deformities |
*
gene ID;
#
disease ID;
AD, autosomal dominant; AR, autosomal recessive; DM, diabetes mellitus; H, inheritance; Sp, sporadic inheritance; X, X-linked.