CDH23-AS1 gene related symptoms and diseases

All the information presented here about the CDH23-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDH23-AS1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Rod-cone dystrophy Very Common - Between 80% and 100% cases
Retinopathy Very Common - Between 80% and 100% cases
Pigmentary retinopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDH23-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Progressive hearing impairment
  • Vestibular dysfunction
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Rare diseases associated to CDH23-AS1 gene

Here you will find a list of rare diseases related to the CDH23-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


USHER SYNDROME, TYPE ID; USH1D


Description

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}.

Most common symptoms of USHER SYNDROME, TYPE ID; USH1D

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Retinopathy
  • Pigmentary retinopathy


More info about USHER SYNDROME, TYPE ID; USH1D

SOURCES: OMIM




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