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  1. Mendelian
  2. Rare Disease Genes
  3. USH1K

USH1K gene related symptoms and diseases

All the information presented here about the USH1K gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to USH1K gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Severe hearing impairment Very Common - Between 80% and 100% cases
Schizophrenia Very Common - Between 80% and 100% cases
Abnormal electroretinogram Very Common - Between 80% and 100% cases
Aplasia/Hypoplasia of the cerebellum Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with USH1K gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Vestibular dysfunction
  • Decreased fertility
  • Scotoma
  • High hypermetropia
  • Iris hypopigmentation
  • Progressive hearing impairment
  • Peripheral visual field loss
  • Chronic sinusitis

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to USH1K gene

Here you will find a list of rare diseases related to the USH1K. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

USHER SYNDROME TYPE 1

Alternate names

USHER SYNDROME TYPE 1 Is also known as ush1, retinitis pigmentosa and congenital deafness, us1

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.

Most common symptoms of USHER SYNDROME TYPE 1

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
More info about USHER SYNDROME TYPE 1

SOURCES: OMIM ORPHANET

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