Rare Diseases Symptoms Automatic Extraction

Clinical and molecular characteristics of Pendred syndrome.

[pendred syndrome]

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. At the level of the inner ear, pendrin is important for the creation of a normal endolymph composition and the maintenance of the endocochlear potential. In the thyroid, pendrin is expressed at the apical membrane of thyroid follicular cells and it appears to be involved in mediating iodide efflux into the lumen and/or maintenance of the follicular pH. Goiter development and hypothyroidism vary among affected individuals and seem to be partially dependent on nutritional iodide intake. In the kidney, pendrin functions as a chloride/bicarbonate exchanger. Elucidation of the molecular basis of Pendred syndrome and the function of pendrin has provided unexpected novel insights into the pathophysiology of the inner ear, thyroid hormone synthesis, and chloride/bicarbonate exchange in the kidney.

Diseases presenting "hypothyroidism" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenomyeloneuropathy
  • alpha-thalassemia
  • aromatase deficiency
  • congenital adrenal hyperplasia
  • cowden syndrome
  • cushing syndrome
  • familial mediterranean fever
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hirschsprung disease
  • inclusion body myositis
  • kallmann syndrome
  • pendred syndrome
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated