Usher Syndrome, Type 2c malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Usher Syndrome, Type 2c:
usher syndrome, type 2c:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases
OMIM:51 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by... (605472) more...
MalaCards based summary: Usher Syndrome, Type 2c, also known as ush2c, is related to usher syndrome, type 2a and usher syndrome, and has symptoms including rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 2c is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Related mouse phenotypes are hearing/vestibular/ear and vision/eye.
NIH Rare Diseases:47 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. 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, which means both copies of the disease-causing gene in each cell have mutations. Last updated: 3/3/2014
UniProtKB/Swiss-Prot:69 Usher syndrome 2C: USH is 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 Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Diseases in the Usher Syndrome family:
Diseases related to Usher Syndrome, Type 2c via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Usher Syndrome, Type 2c:
Search GEO for disease gene expression data for Usher Syndrome, Type 2c.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet