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Browse result for Usher syndrome

※ introduction

    Usher syndrome, also known as Hallgren syndrome, Usher¨CHallgren syndrome, retinitis pigmentosa¨Cdysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the most common cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish populations. Usher syndrome is named after Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of the syndrome in 1914.

Reference
Wiki: Usher syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03094O754457399
USH2A
Usherin
Homo sapiens
PTMD04103P120813035
HARS1
Histidine--tRNA ligase, cytoplasmic
Homo sapiens
PTMD05732P584187401
CLRN1
Clarin-1
Homo sapiens
PTMD06527Q134024647
MYO7A
Unconventional myosin-VIIa
Homo sapiens
PTMD10655Q8WXG984059
ADGRV1
Adhesion G-protein coupled receptor V1 [Cleaved into: ADGRV1 subunit alpha; ADGRV1 subunit beta]
Homo sapiens
PTMD12672Q9H25164072
CDH23
Cadherin-23
Homo sapiens