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MCID: USH001
MIFTS: 58
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Usher Syndrome
Categories:
Rare diseases, Eye diseases, Ear diseases, Fetal diseases, Genetic diseases
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MalaCards integrated aliases for Usher Syndrome:
Characteristics:Orphanet epidemiological data:59
usher syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide),1-9/100000 (Denmark),1-9/100000 (Germany),1-9/100000 (United Kingdom),1-9/100000 (Norway),1-9/100000 (Spain),1-9/100000 (Finland),1-9/100000 (United States),1-9/100000 (Colombia); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Ear diseases
ICD10:
34
Orphanet: 59
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
External Ids:
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NIH Rare Diseases
:
53
Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision, that can enlarge and merge to produce tunnel vision (loss of all peripheral vision). In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner. Treatment for the hearing loss may include hearing aids or surgery for a cochlear implant. Vitamin A palmitate is useful for treating the vision loss in people with Usher syndrome type II.
MalaCards based summary : Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type ig and usher syndrome, type iia, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Usher Syndrome is USH2A (Usherin). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are decreased fertility and tinnitus Disease Ontology : 12 A syndrome characterized by a combination of hearing loss and visual impairment. Genetics Home Reference : 25 Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives. MedlinePlus : 43 Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision. There are three types of Usher syndrome: People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually start by age 10 and lead to blindness. People with type II have moderate to severe hearing loss and normal balance. Vision problems start in the early teens and get worse more slowly than in type I. People with type III are born with normal hearing and near-normal balance but develop vision problems and then hearing loss. There is no cure. Tools such as hearing aids or cochlear implants can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help. NIH: National Institute on Deafness and Other Communication Disorders Wikipedia : 76 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more... |
Human phenotypes related to Usher Syndrome:59 32 (show all 35)
UMLS symptoms related to Usher Syndrome:coughing, snoring, tinnitus, sore throat, vertigo/dizziness, equilibration disorder MGI Mouse Phenotypes related to Usher Syndrome:46
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Drugs for Usher Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 13)
Cochrane evidence based reviews: usher syndromes |
Genetic tests related to Usher Syndrome:
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MalaCards organs/tissues related to Usher Syndrome:41
Retina,
Eye,
Testes,
Cerebellum,
Bone
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Articles related to Usher Syndrome:(show top 50) (show all 475)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Usher Syndrome:6
Copy number variations for Usher Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Usher Syndrome.
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Cellular components related to Usher Syndrome according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Usher Syndrome according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Usher Syndrome according to GeneCards Suite gene sharing:
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