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  2. Genes
  3. USH1H

USH1H gene related symptoms and diseases

All the information presented here about the USH1H gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to USH1H 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 USH1H 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 USH1H gene

Here you will find a list of rare diseases related to the USH1H. 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. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

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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