Table 5.

THR-like receptors are involved in various diseases in humans.

S.No.	Receptor	Involvement in disease
1.	THRα	Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) Disease description: A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels, and high triiodothyronine levels. There is differential sensitivity to the action of thyroid hormones, with retention of hormone responsiveness on the hypothalamic-pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance.
2.	THRβ	Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) Disease description: An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia, and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) Disease description: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth, bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. Selective pituitary thyroid hormone resistance (PRTH) Disease description: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established.
3.	RARα	Chromosomal aberrations involving RARA are commonly found in acute promyelocytic leukemia. Translocation t(11;17)(q32;q21) with ZBTB16/PLZF; translocation t(15;17)(q21;q21) with PML; translocation t(5;17)(q32;q11) with NPM. The PML-RARA oncoprotein requires both the PML ring structure and the coiled coil domain for both interactions with UBE2I, the location of nuclear microspeckles, and sumoylation. In addition, the coiled-coil domain functions in blocking RA-mediated transactivation and cell differentiation.
4.	RARβ	Microphthalmia, syndromic, 12 (MCOPS12) Disease description A form of microphthalmia, a disorder of eye formation that ranges from the small size of a single eye to the complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Patients with MCOPS12 exhibit variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.
5.	VDR	Rickets vitamin D-dependent 2A (VDDR2A) Description of the disease A disorder of vitamin D metabolism results in severe rickets, hypocalcemia, and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.
6.	PPARγ	Obesity Description of the disease: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements as the result of excessive accumulation of body fat. Lipodystrophy, familial partial, 3 (FPLD3) Disease description: A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased, or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus, and dyslipidemia. PPARG defects can lead to type 2 insulin-resistant diabetes and hypertension. PPARG mutations may be associated with colon cancer. Glioma 1 (GLM1) Disease description Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise multiforme astrocytomas and glioblastomas derived from astrocytes, oligodendrogliomas derived from oligodendrocytes, and ependymomas derived from ependymocytes. Polymorphism Genetic variations in PPARG define the quantitative trait locus 1 of the body mass index (BMIQ1). The body max index (BMI) reflects the amount of fat, lean mass, and body build. Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT). CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariate-adjusted CIMT is explained by genetic factors.
7.	RORα	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) Description of the disease An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild to severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia, and epilepsy.
8.	RORβ	Epilepsy, generalized idiopathic 15 (EIG15) Description of the disease An autosomal dominant form of generalized idiopathic epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by the onset of variable types of seizures in the first decade of life.
9.	RORγ	Disruption phenotype Mice show decreased adipocyte size and high insulin sensitivity, leading to improved control of circulating fatty acids. Mutants are protected against hyperglycemia and insulin resistance in the state of obesity. Loss of circadian pattern of some clock genes expression in peripheral tissues and massive apoptosis of thymocytes. Knockout mice for isoform 2 lack all lymph nodes and Peyer patches, as well as LTi cells. They also show a reduction of T(H)17 cells in the lamina propria by at least 10 times to less than 1% of T (H) cells. Mice are less susceptible to autoimmune inflammatory diseases.