familial goiter

a group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: iodide transport defect [MIM*274400]; of autosomal recessive inheritance caused by mutation in the sodium iodide symporter gene (SLC5A5) on 19p, in which the gland is unable to concentrate iodide; organification defect [MIM*274500 and *274600], in which the iodination of tyrosine is defective; Pendred syndrome [MIM*274600]; autosomal recessive inheritance caused by mutation in the Pendred syndrome gene (PDS) on 7q; associated with hearing loss; coupling defect [MIM*274700], in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; iodotyrosine deiodinase defect [MIM*274800], in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; plasma iodoprotein disorder [MIM*274900], in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; and hereditary hyperthyroidism.

A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal or mental retardation, and with other signs of hypothyroidism that may develop with age.

Group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age.