USH4
MCID: USH045
MIFTS: 23
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Usher Syndrome, Type Iv (USH4)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Usher Syndrome, Type Iv:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset of vision and hearing loss occurs around 40 years of age based on a report of 3 yemenite jewish families (last curated september 2018) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases |
UniProtKB/Swiss-Prot :
73
Usher syndrome 4: A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive.
MalaCards based summary : Usher Syndrome, Type Iv, also known as usher syndrome, type 4, is related to usher syndrome, type i and retinitis pigmentosa. An important gene associated with Usher Syndrome, Type Iv is ARSG (Arylsulfatase G). Affiliated tissues include bone, and related phenotypes are progressive sensorineural hearing impairment and retinal atrophy OMIM® : 57 An atypical form of Usher syndrome, here designated type IV, is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018). For a discussion of genetic heterogeneity of Usher syndrome, see 276900. (618144) (Updated 05-Mar-2021) |
Human phenotypes related to Usher Syndrome, Type Iv:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618144 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Usher Syndrome, Type Iv:40
Bone
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Articles related to Usher Syndrome, Type Iv:
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ClinVar genetic disease variations for Usher Syndrome, Type Iv:6
UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Iv:73
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Search
GEO
for disease gene expression data for Usher Syndrome, Type Iv.
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