1. Mendelian
  2. Rare Disease Genes
  3. CLRN1-AS1

CLRN1-AS1 gene related symptoms and diseases

All the information presented here about the CLRN1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CLRN1-AS1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Hallucinations Very Common - Between 80% and 100% cases
Vestibular hypofunction Very Common - Between 80% and 100% cases
Hemianopia Very Common - Between 80% and 100% cases
Iris hypopigmentation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLRN1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Peripheral visual field loss
  • High hypermetropia
  • Scotoma
  • Visual field defect
  • Vestibular dysfunction
  • Abnormal electroretinogram
  • Schizophrenia
  • Progressive hearing impairment

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CLRN1-AS1 gene

Here you will find a list of rare diseases related to the CLRN1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


USHER SYNDROME TYPE 3

Alternate names

USHER SYNDROME TYPE 3 Is also known as ush3, usher syndrome, type iii

Description

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

Most common symptoms of USHER SYNDROME TYPE 3

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


More info about USHER SYNDROME TYPE 3

SOURCES: ORPHANET OMIM



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