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MCID: USH030
MIFTS: 29
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Usher Syndrome, Type Ik
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
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth two pakistani families have been reported (last curated december 2012) HPO:32
usher syndrome, type ik:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Ear diseases
ICD10:
33
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OMIM
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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)
MalaCards based summary : Usher Syndrome, Type Ik, also known as usher syndrome type 1k, is related to usher syndrome and usher syndrome, type i. An important gene associated with Usher Syndrome, Type Ik is USH1K (Usher Syndrome 1K (Autosomal Recessive)). Affiliated tissues include bone and eye, 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. |
Diseases in the Usher Syndrome family:Diseases related to Usher Syndrome, Type Ik via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Usher Syndrome, Type Ik:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614990Human phenotypes related to Usher Syndrome, Type Ik:32
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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:41
Bone,
Eye
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Genes related to Usher Syndrome, Type Ik (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Usher Syndrome, Type Ik.
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Biological processes related to Usher Syndrome, Type Ik according to GeneCards Suite gene sharing:
Molecular functions related to Usher Syndrome, Type Ik according to GeneCards Suite gene sharing:
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