Usher Syndrome, Type Iiia (USH3A)

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Disease Ontology 12 DOID:0110828 DOID:0110841 OMIM 56 276902 OMIM Phenotypic Series 56 PS276900 MeSH 43 D052245 NCIt 49 C126329 ICD10 32 H35.5

ICD10 via Orphanet 33 H35.5 UMLS via Orphanet 72 C1568248 Orphanet 58 ORPHA231183 MedGen 41 C1568248 SNOMED-CT via HPO 68 12184005 128306009 13164000 191526005 193570009 21061000119107 23388006 247032003 247053007 258211005 274524001 28835009 35489007 48694002 58214004 60700002 65194006 7011001 70397008 77674003 78667006 7973008 81016008 82649003 85102008 more UMLS 71 C1568248

NIH Rare Diseases : ⁵² 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 iiib and usher syndrome, type ih. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include retina and eye, and related phenotypes are nyctalopia and abnormal electroretinogram

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 : ⁵⁶ 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 : ⁷³ 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 : ⁷⁴ Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Clinical features from OMIM:

276902

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