USHER SYNDROME, TYPE IIIA

General Information (adopted from Orphanet):

Synonyms, Signs: USHER SYNDROME, TYPE III
USH3A
USH3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 276902
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000662) Nyctalopia 92 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(OMIM) Reduction of central visual acuity 1 / 7739
4
(OMIM) Hearing loss, sensorineural, progressive post-lingual 1 / 7739
5
(OMIM) Vestibular dysfunction, variable 1 / 7739
6
(OMIM) Progressive restriction of visual feilds 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Karjalainen et al. (1985) described this distinct type of Usher syndrome as being characterized by progressive hearing loss and vestibular hypoactivity. Smith et al. (1992) described a family in the French Acadian population of southwestern Louisiana in which ...
Molecular genetics OMIM In the 2 Finnish families reported by Sankila et al. (1995) and Joensuu et al. (1996) and the Italian family reported by Gasparini et al. (1998) with Usher syndrome type III, Joensuu et al. (2001) identified mutations in ...
Population genetics OMIM Usher syndrome type III has been estimated to comprise 2% of all Usher syndrome cases; however, based on clinical criteria, 42% of patients with Usher syndrome in Finland are thought to have USH3, suggesting gene enrichment by a ...