Usher Syndrome, Type 1d malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Usher Syndrome, Type 1d:
usher syndrome, type 1d:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases
OMIM:51 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (601067) more...
MalaCards based summary: Usher Syndrome, Type 1d, also known as ush1d, is related to usher syndrome type 1h and usher syndrome, type 1b, and has symptoms including hearing impairment, rod-cone dystrophy and vestibular dysfunction. An important gene associated with Usher Syndrome, Type 1d is CDH23 (Cadherin Related 23). 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 1D: 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Usher syndrome 1D/F: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
Articles related to Usher Syndrome, Type 1d:
UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1d:69 (show all 26)
Clinvar genetic disease variations for Usher Syndrome, Type 1d:5 (show all 41)
Search GEO for disease gene expression data for Usher Syndrome, Type 1d.
Cellular components related to Usher Syndrome, Type 1d according to GeneCards Suite gene sharing:
Biological processes related to Usher Syndrome, Type 1d according to GeneCards Suite gene sharing:(show all 8)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet