USHER SYNDROME, TYPE IF

General Information (adopted from Orphanet):

Synonyms, Signs: USH1F
Number of Symptoms 5
OrphanetNr:
OMIM Id: 602083
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
(HPO:0001270) Motor delay 322 / 7739
4
(OMIM) Hearing loss, profound congenital sensorineural 3 / 7739
5
(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 (276900) have congenital ...
Molecular genetics OMIM In 2 Pakistani families segregating Usher syndrome type 1F, Ahmed et al. (2001) demonstrated 2 homozygous mutations (IVS27-2A-G, 605514.0001; and arg3 to ter, 605514.0002) in the protocadherin-15 gene (PCDH15; 605514).

In cell culture studies, Rebibo-Sabbah et ...