MedGen

Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200). [from OMIM]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. [from MONDO]

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]