USH1H
MCID: USH043
MIFTS: 31
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Usher Syndrome, Type Ih (USH1H)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Usher Syndrome, Type Ih:
Name: Usher Syndrome, Type Ih
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Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases
ICD10:
32
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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 retinitis pigmentosa-deafness syndrome and deafness, autosomal recessive 48. 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. |
MGI Mouse Phenotypes related to Usher Syndrome, Type Ih:45
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Genetic tests related to Usher Syndrome, Type Ih:
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MalaCards organs/tissues related to Usher Syndrome, Type Ih:40
Eye,
Retina
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Articles related to Usher Syndrome, Type Ih:
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Search
GEO
for disease gene expression data for Usher Syndrome, Type Ih.
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Cellular components related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:(show all 16)
Biological processes related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Usher Syndrome, Type Ih according to GeneCards Suite gene sharing:
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