EditFrom NeuroLex
Usher Syndrome
| Name: | Usher Syndrome |
| Definition: | * 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. (JABL) * 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. (MSH) * 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. (CSP) |
| Synonym(s): | dystrophia retinae pigmentosa-dysostosis syndrome, Hallgren syndrome, Retinitis pigmentosa-deafness syndrome, retinitis pigmentosa-congenital deafness syndrome, dystrophia retinae-dysacousis syndrome, Graefe-Usher syndrome |
| Super-category: | Multisystem disease |
| Id: | birnlex_12821 |
| Link to OWL / RDF: | Download this content as OWL/RDF |
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- Acronym: DRD
- Acronym: US
Subcategories
This category has the following 3 subcategories, out of 3 total.
U
Facts about Usher SyndromeRDF feed
| Acronym | DRD +, and US + |
| Created | 18 November 2007 + |
| CurationStatus | uncurated + |
| Definition | * a hereditary disorder characterized by d … * 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. (JABL) * 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. (MSH) * 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. (CSP) trait, but some forms are X-linked. (CSP) |
| DefinitionSource | UMLS + |
| Id | birnlex_12821 + |
| Label | Usher Syndrome + |
| ModifiedDate | 30 May 2009 + |
| Synonym | dystrophia retinae pigmentosa-dysostosis syndrome +, Hallgren syndrome +, Retinitis pigmentosa-deafness syndrome +, retinitis pigmentosa-congenital deafness syndrome +, dystrophia retinae-dysacousis syndrome +, and Graefe-Usher syndrome + |
| Umlscui | C0271097 + |