01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Usher Syndrome
- Standard Disease Name
- usher syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D052245
- OMIM ID
- 590085|500004
- UMLS ID
- C0271097
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.|MSH2017_2016_08_12:Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.|MEDLINEPLUS_20151021:<p>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.</p> <p>There are three types of Usher syndrome:</p> <ul> <li>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.</li> <li>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.</li> <li>People with type III are born with normal hearing and near-normal balance but develop vision problems and then hearing loss.</li> </ul> <p>There is no cure. Tools such as <a href='https://www.nlm.nih.gov/medlineplus/hearingaids.html'>hearing aids</a> or <a href='https://www.nlm.nih.gov/medlineplus/cochlearimplants.html'>cochlear implants</a> can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help.</p> <p >NIH: National Institute on Deafness and Other Communication Disorders</p>|JABL99:A hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait.|CSP2006:hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked.