USHER SYNDROME, TYPE IG

General Information (adopted from Orphanet):

Synonyms, Signs: USH1G
Number of Symptoms 6
OrphanetNr:
OMIM Id: 606943
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:0004646) Hypoplasia of the nasal bone 2 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0001751) Vestibular dysfunction 19 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Hearing loss, congenital profound 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, ...
Clinical Description OMIM Bashir et al. (2010) reported 4 affected members of a consanguineous Pakistani family with Usher syndrome type IG. The patients had an atypical form of the disorder, with moderate to severe hearing loss, normal vestibular function, and lack ...
Molecular genetics OMIM In affected members of Tunisian, German, and Jordanian families segregating Usher syndrome type IG, Weil et al. (2003) identified mutations in the SANS gene (607696.0001-607696.0004).

In 4 affected members of a consanguineous Pakistani family with a ...