TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The propositus had CH and he was heterozygous for TSHR p.E34K; his mother, also heterozygous for TSHR p.E34K, did not have CH. 21186955 2011
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. 18379122 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis. 10102047 1999
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE We report a familial case of CH that transmitted as a recessive trait and caused by a novel homozygous nonsense mutation in TSHR with an initial diagnosis of thyroid agenesis hypoplasia. 17199441 2006
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The aim of this study was to investigate the mutation of thyrotropin receptor (TSHR) gene in Chinese children with congenital hypothyroidism (CH). and the hereditary characteristic. 21714469 2010
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE TG and TSHR mutations are the most common genetic defects in Saudi patients with CH. 29546359 2018
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 22405933 2012
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism, a mild form of TSH resistance that is not as well characterized by diagnostic procedures. 19820021 2009
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The autosomal recessive inheritance of mutations of the thyroid-stimulating hormone receptor gene was recognized in patients with CH and thyroid hypoplasia, while autosomal dominant mutations of the Pax-8 gene were described in patients with thyroid dysgenesis. 10895037 2000
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. 28215547 2017
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene. 12629076 2003
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 9185526 1997
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Our study indicated that the prevalence of TSHR mutations was 5.91% among studied Chinese patients with CH. 31356790 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Loss of function mutations of the TSH receptor are responsible for different phenotypes ranging from asymptomatic resistance to TSH to overt congenital hypothyroidism. 10698593 1999
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. 28455095 2017
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The prevalence of congenital hypothyroidism (CH) associated with mutations in the TSH receptor gene (TSHR) has not been established. 19158199 2009
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Thus, mutations in the TSHR gene can cause congenital hypothyroidism. 16320156 2005
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE In several cases, frameshift and/or nonsense mutations in TSHR were found in the patients with congenital hypothyroidism (CH), however they have not been functionally studied in an animal model. 29507327 2018
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease LHGDN Seventy-nine and forty-nine Chinese children with CH were enrolled for molecular analysis of the TSHR gene and TTF-1 gene, respectively. 18379122 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE Here we conclude that thyroid agenesis in both siblings in this study originates from c.317+1G>A splice site mutation in the TSHR gene, and this study underlines the importance of detailed molecular genetic studies in the definitive diagnosis and classification of CH. 24859513 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease LHGDN We report here a familial case of congenital hypothyroidism, transmitted as a recessive trait, and caused by a homozygous mutation in the thyrotropin receptor (TSH-R). 11716047 2001
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE We aimed to explore TSH receptor (TSHR) mutations in a cohort of Hungarian patients with CH. 25978107 2015
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease CLINVAR The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. 23404215 2013
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The screening of TSHR gene mutations by SSCP in a well defined cohort of 100 children with congenital hypothyroidism (CH), diagnosed and followed since 1978 in the Childrens Hospital of Berlin, revealed one patient with hypoplasia of the thyroid to be positive for two compound heterozygote inactivating mutations of the TSHR gene, indicating thereby that the clinical approach to define phenotypes of interest could be helpful to understand the fundamental process of thyroid development. 8981017 1996
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation disease BEFREE The P27T TSHr variant does not seem to play a functional role in the pathogenesis of CH and should be considered as a polymorphism. 18727713 2009