|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
|
18379122 |
2008 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A review of all previously reported cases of NAH due to an activating TSHR germline mutation showed that the mean duration of gestation in these patients was significantly lower than in patients with inactivating TSHR mutations causing congenital hypothyroidism (35.8 weeks vs. 39.4 weeks, P = 0.003).
|
15163335 |
2004 |
|
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 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Beside defects of thyroglobulinsynthesis, defects of the sodium-iodide-transporter or the TSH-receptor, a defect of the thyroidperoxidase, the key-enzyme of thyroid hormone biosynthesis, can cause a total iodide organification defect and thereby congenital hypothyroidism.
|
8981018 |
1996 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
|
17526952 |
2006 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Complete TSH resistance due to biallelic LOF TSHR mutations must be suspected in all patients with severe not syndromic CH and severe thyroid hypoplasia diagnosed at birth by neonatal screening.
|
23154162 |
2013 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
|
27084275 |
2016 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
|
26709262 |
2016 |
|
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 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Four (1.6%) of 240 patients with CH harbored TSHR variants combined with another monoallelic mutation in either DUOX2 or TG gene.
|
27637299 |
2016 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
|
24895636 |
2014 |
|
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 |
|
Congenital Hypothyroidism
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism.
|
15863666 |
2005 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.
|
23926367 |
2009 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism.
|
25928756 |
2015 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we conclude that CH in both siblings of this study originates from a large deletion including the exon 2 of the TSHR gene.
|
24690939 |
2014 |
|
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 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
However, mutations in TTF-1, TTF-2, PAX8 and TSHR are found in <10% of patients with congenital hypothyroidism and these predominantly have orthotopic thyroid hypoplasia, often associated with other malformations.
|
12786749 |
2003 |
|
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 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
CTD_human |
In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene.
|
12629076 |
2003 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing.
|
22876533 |
2012 |