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Summary
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 CHNG1
THYROTROPIN RESISTANCE
275200
OMIM = Online Medalian Inheritance of Men
14q31.1
rare
autosomal recessive
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
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