USHER SYNDROME, TYPE IIC

General Information (adopted from Orphanet):

Synonyms, Signs: USH2C USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
USH2B, FORMERLY, INCLUDED
USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 605472
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:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
(OMIM) Progressive retinitis pigmentosa 4 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Hearing loss, congenital sensorineural, moderate-severe 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ebermann et al. (2009) reported a German brother and sister with USH2C. The patients were 43 and 50 years old, respectively, at the time of the examination. Both patients had congenital, bilateral, symmetric, moderate to severe hearing loss ...
Genotype-Phenotype Correlations OMIM In 3 sibs with USH2C and 14 patients with USH2A, Schwartz et al. (2005) investigated the retinal disease expression. The sibs with USH2C showed abnormal photoreceptor-mediated function in all retinal regions, and there was greater rod than cone ...
Molecular genetics OMIM Weston et al. (2004) analyzed the GPR98, or VLGR1, gene for mutations in chromosome 5q14-linked Usher syndrome (USH2C) and found mutations limited to 1 isoform, VLGR1b (602851.0002-602851.0005).

In affected members of a large consanguineous Tunisian family ...