Usher Syndrome Type 3b malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Usher Syndrome Type 3b:
usher syndrome type 3b:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases
UniProtKB/Swiss-Prot:69 Usher syndrome 3B: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
MalaCards based summary: Usher Syndrome Type 3b, is also known as usher syndrome 3b, and has symptoms including hearing impairment, visual impairment and optic disc pallor. An important gene associated with Usher Syndrome Type 3b is HARS (Histidyl-TRNA Synthetase).
OMIM:51 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (614504) more...
Human phenotypes related to Usher Syndrome Type 3b:63 (show all 7)
UMLS symptoms related to Usher Syndrome Type 3b:photophobia
UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome Type 3b:69
Clinvar genetic disease variations for Usher Syndrome Type 3b:5
Search GEO for disease gene expression data for Usher Syndrome Type 3b.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet