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GENATLAS PHENOTYPE

last update : 31/05/2006

Symbol	TIOD
Location	2p25.3
Name	total iodide organification defect
Other name(s)	goiter (organification defect II A) thyroid hormonogenesis, genetic defect in, 2a
Corresponding gene	TPO
Other symbol(s)	TPO
Main clinical features	either euthyroid child of normal stature with recurrent goiter (thyroid tissues showed no iodide peroxidation or tyrosine iodination activity, but addition of excessive hematin, the prosthetic group of peroxidase, restored tyrosine iodination) either cretinous child with a goiter who completely discharged radioiodide after administration of perchlorate (total in vitro peroxidase deficiency not improved by peroxide, hematin, or enzyme solubilization)
Genetic determination
Related entries	. including congenital hyperthyroidism with goiter
Function/system disorder	endocrinology
Type	disease

Gene product

Name	thyroid peroxidase (TPO)

Remark(s)