Usher Syndrome, Type Iv (USH4)

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OMIM® 57 618144 OMIM Phenotypic Series 57 PS276900 MeSH 44 D052245

MedGen 41 C4748364 CN257730 SNOMED-CT via HPO 68 258211005 405722004 95695004

UniProtKB/Swiss-Prot : ⁷² Usher syndrome 4: A form of Usher syndrome, 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 different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive.

MalaCards based summary : Usher Syndrome, Type Iv, also known as usher syndrome, type 4, is related to usher syndrome and usher syndrome, type i. An important gene associated with Usher Syndrome, Type Iv is ARSG (Arylsulfatase G). Affiliated tissues include eye and bone, and related phenotypes are progressive sensorineural hearing impairment and retinal atrophy

OMIM® : ⁵⁷ An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900. (618144) (Updated 20-May-2021)

Clinical features from OMIM®:

618144 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iv

Search GEO for disease gene expression data for Usher Syndrome, Type Iv.