USH1K
MCID: USH030
MIFTS: 29
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Usher Syndrome, Type Ik (USH1K)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Usher Syndrome, Type Ik:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth two pakistani families have been reported (last curated december 2012) HPO:31
usher syndrome, type ik:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases
ICD10:
32
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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. |
Human phenotypes related to Usher Syndrome, Type Ik:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614990 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Usher Syndrome, Type Ik:46
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Genetic tests related to Usher Syndrome, Type Ik:
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MalaCards organs/tissues related to Usher Syndrome, Type Ik:40
Eye,
Retina,
Bone
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Search
GEO
for disease gene expression data for Usher Syndrome, Type Ik.
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Cellular components related to Usher Syndrome, Type Ik according to GeneCards Suite gene sharing:
Biological processes related to Usher Syndrome, Type Ik according to GeneCards Suite gene sharing:
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