Usher Syndrome, Type Iiia

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OMIM 57 276902 Disease Ontology 12 DOID:0110828 DOID:0110841 ICD10 33 H35.5 Orphanet 59 ORPHA231183 UMLS via Orphanet 74 C1568248

ICD10 via Orphanet 34 H35.5 MedGen 42 C1568248 MeSH 44 D052245 SNOMED-CT via HPO 69 258211005 60700002 82649003 28835009 274524001 128306009 193570009 247053007 7973008 23388006 81016008 65194006 21061000119107 35489007 78667006 7011001 48694002 12184005 85102008 13164000 247032003 70397008 77674003 191526005 58214004 more UMLS 73 C1568248

NIH Rare Diseases : ⁵³ Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision, that can enlarge and merge to produce tunnel vision (loss of all peripheral vision). In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner. Treatment for the hearing loss may include hearing aids or surgery for a cochlear implant. Vitamin A palmitate is useful for treating the vision loss in people with Usher syndrome type II.

MalaCards based summary : Usher Syndrome, Type Iiia, also known as usher syndrome, type 3a, is related to usher syndrome, type ic and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1). Affiliated tissues include retina and eye, and related phenotypes are sensorineural hearing impairment and astigmatism

Disease Ontology : ¹² An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.

OMIM : ⁵⁷ Usher syndrome type III 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 (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900). (276902)

UniProtKB/Swiss-Prot : ⁷⁵ Usher syndrome 3A: 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.

Wikipedia : ⁷⁶ Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Clinical features from OMIM:

276902

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