Usher Syndrome, Type Ik (USH1K)

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Disease Ontology 12 DOID:0110837 OMIM® 57 614990 OMIM Phenotypic Series 57 PS276900 ICD10 32 H35.5

MedGen 41 C3539124 SNOMED-CT via HPO 68 258211005 28835009 UMLS 71 C3539124

OMIM® : ⁵⁷ 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). (614990) (Updated 05-Mar-2021)

MalaCards based summary : Usher Syndrome, Type Ik, also known as usher syndrome type 1k, is related to usher syndrome and deafness, autosomal recessive 33. An important gene associated with Usher Syndrome, Type Ik is USH1K (Usher Syndrome 1K (Autosomal Recessive)). Affiliated tissues include eye, retina and bone, and related phenotypes are motor delay and rod-cone dystrophy

Disease Ontology : ¹² An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.

Clinical features from OMIM®:

614990 (Updated 05-Mar-2021)

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