Usher Syndrome, Type Ih (USH1H)

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Disease Ontology 12 DOID:0110835 OMIM 56 612632 OMIM Phenotypic Series 56 PS276900

ICD10 32 H35.5 UMLS 71 C2675458

OMIM : ⁵⁶ Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (612632)

MalaCards based summary : Usher Syndrome, Type Ih, also known as usher syndrome, type 1h, is related to deafness, autosomal recessive 48 and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)). Affiliated tissues include eye and retina, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : ¹² An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.

Clinical features from OMIM:

612632

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