USHER SYNDROME, TYPE ID

General Information (adopted from Orphanet):

Synonyms, Signs: USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED
USH1D USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601067
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:0001751) Vestibular dysfunction 19 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(OMIM) Hearing loss, congenital profound 3 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Usher syndrome type I is an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction. Gerber et al. (1996) suggested the existence of a novel form of Usher ...
Genotype-Phenotype Correlations OMIM Nonsyndromic DFNB12 deafness is associated with CDH23 missense mutations that are presumed to be hypomorphic alleles with sufficient residual activity for retinal and vestibular function, but not for auditory cochlear function. In contrast, homozygous nonsense, frameshift, splice site ...
Molecular genetics OMIM - Usher Syndrome Type ID

Bolz et al. (2001) identified mutations in the CDH23 gene (605516) in a Cuban family and a German patient with USH1D. Di Palma et al. (2001) demonstrated that mutations in the ...