Congenital hypothyroidism

Gene: TSHR

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

gene: TSHR was added gene: TSHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TSHR were set to 16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions; 22876533; 7528344; PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.; PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia Phenotypes for gene: TSHR were set to Hypothyroidism, congenital, nongoitrous, 1 275200; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; compensated hypothryoidism; subclinical hypothyroidism; Hypothyroidism, Congenital, Nongoitrous, 1, 275200; eutopic gland-in-situ; TSH resistance