Table 1.
Genes associated with congenital hypothyroidism
| Gene | OMIM gene | Disease | OMIM disease | Inheritance | Gene function |
| THRA | 190120 | CHNG6 | 614450 | AD | Nuclear hormone receptor mediator of T3 biological activity |
| NKX2-1 | 600635 | CAHTP | 610978 | AD | Transcription factor for expression of thyroid- specific genes |
| NKX2-5 | 600584 | CHNG5 | 225250 | AD | Transcription factor for thyroid organogenesis |
| PAX8 | 67415 | CHNG2 | 218700 | AD | Transcription factor for expression of thyroid- specific genes, maintenance of thyroid cell differentiation |
| POU1F1 | 173110 | CPHD1 | 613038 | AD, AR | Transcription factor involved in specification of lactotrope, somatotrope and thyrotrope phenotypes in developing anterior pituitary gland |
| GNAS | 139320 | PHP1A PHP1C | 103580 612462 | AD | Activation of adenylate cyclase that regulates thyroid activity |
| SECISBP2 | 607693 | Abnormal thyroid hormone metabolism | 609698 | AR | Co-translational insertion of selenocysteine into selenoproteins like type II iodothyronine deiodinase |
| THRB | 190160 | GRTH PRTH | 188570 274300 145650 | AD AR AD | Nuclear hormone receptor for triiodothyronine. Mediation of thyroid hormone activity |
| TRHR | 188545 | Generalized thyrotropin-releasing hormone resistance | 188545 | AR | TRH receptor promoting TSH and prolactin release |
| KAT6B | 605880 | GTPTS SBBYSS | 606170 603736 | AD | Histone acetyltransferase transcriptional activator and repressor, also important for thyroid organogenesis |
| LHX4 | 602146 | CPHD4 | 262700 | AD | Early stages of pituitary development |
| TSHB | 188540 | CHNG4 | 275100 | AR | Control of thyroid structure and metabolism |
| TSHR | 603372 | CHNG1 | 275200 | AR | Major controller of thyroid cell metabolism. Receptor for thyrotropin and thyrostimulin |
| TPO | 606765 | TDH2A | 274500 | AR | Central role in thyroid gland function. Generation of thyroxine, T3 |
| SLC5A5 | 601843 | TDH1 | 274400 | AR | Uptake of iodine by thyroid |
| DUOXA2 | 612772 | TDH5 | 274900 | AR | Thyroid hormone synthesis |
| DUOX2 | 606759 | TDH6 | 607200 | AR | Thyroid hormone synthesis |
| IYD | 612025 | TDH4 | 274800 | AR | Hydrolysis of thyroglobulin to release iodide |
| PROP1 | 601538 | CPHD2 | 262600 | AR | Involved in ontogenesis of pituitary gonadotropes, somatotropes, lactotropes and caudomedial thyrotropes |
| SLC26A4 | 605646 | PDS | 274600 | AR | Sodium-independent transporter of iodide |
| TG | 188450 | TDH3 | 274700 | AR | Substrate for synthesis of T4 and T3, storage of inactive forms of thyroid hormone and iodine |
| FOXI1 | 601093 | PDS | / | AR | Transcription factor for SLC26A4 |
| FOXE1 | 602617 | Athyroidal/ thyroidal hypothyroidism with spiky hair, cleft palate | 241850 | AR | Thyroid morphogenesis |
| UBR1 | 605981 | JBS | 243800 | AR | Degradation of substrate proteins |
| SLC16A2 | 300095 | AHDS | 300523 | XLR | Cell import of T4, T3, T2 |
AHDS = Allan-Herndon-Dudley syndrome; CAHTP = choreoathetosis and congenital hypothyroidism with/without pulmonary dysfunction; CHNG = congenital nongoitrous hypothyroidism; CPHD = combined pituitary hormone deficiency; GRTH = generalized thyroid hormone resistance; GTPTS = genitopatellar syndrome; JBS = Johanson-Blizzard syndrome; PDS = Pendred syndrome; PRTH = selective pituitary thyroid hormone resistance; SBBYSS = Ohdo syndrome, SBBYS variant; TDH = thyroid dyshormono- genesis; AD = autosomal dominant; AR = autosomal recessive; XLR = X-linked recessive.