USHER SYNDROME, TYPE IC

General Information (adopted from Orphanet):

Synonyms, Signs: USHER SYNDROME, TYPE I, ACADIAN VARIETY
USH1C
Number of Symptoms 7
OrphanetNr:
OMIM Id: 276904
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:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0001756) Vestibular hypofunction 3 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(OMIM) Progressive retinitis pigmentosa 4 / 7739
5
(OMIM) Retinitis pigmentosa, sector type (in some patients) 1 / 7739
6
(OMIM) Hearing loss, profound congenital sensorineural 3 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (see 276900) have ...
Clinical Description OMIM Kloepfer et al. (1966) identified 537 persons with hearing loss in a French-Acadian ('Cajun') group in Louisiana. Of the 468 living persons with hearing loss, at least 158 or about 30% were known to have retinitis pigmentosa and ...
Molecular genetics OMIM In patients with Usher syndrome IC, Verpy et al. (2000) found a splice site mutation (605242.0001), a frameshift mutation (605242.0002), and the expansion of an intronic variable number of tandem repeats (VNTRs) (605242.0003). Verpy et al. (2000) proposed ...