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Summary
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 CHNG1
THYROTROPIN RESISTANCE
275200
OMIM = Online Medalian Inheritance of Men
90673
14q31.1
rare
autosomal recessive
mutation in the thyroid-stimulating hormone receptor gene
Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia [Grasberger H, 2017]
symptoms
no clinical signs or symptoms
onset, infancy
laboratory finding
Thyroid-stimulating hormone (TSH) increasedserum
Literature
Nota B,et al.Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingJ Med Genet5011754-7592013
Nota B,et al.Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduriaAm J Hum Genet924627-6312013