Usher Syndrome, Type 1f malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Usher Syndrome, Type 1f:
usher syndrome, type 1f:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases
NIH Rare Diseases:46 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
MalaCards based summary: Usher Syndrome, Type 1f, also known as ush1f, is related to usher syndrome and continuous spike-wave during slow sleep syndrome, and has symptoms including rod-cone dystrophy, motor delay and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 1f is PCDH15 (Protocadherin Related 15). Related mouse phenotypes are vision/eye and hearing/vestibular/ear.
OMIM:50 Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy... (602083) more...
UniProtKB/Swiss-Prot:68 Usher syndrome 1F: 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.
Articles related to Usher Syndrome, Type 1f:
UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1f:68
Clinvar genetic disease variations for Usher Syndrome, Type 1f:5 (show all 14)
Search GEO for disease gene expression data for Usher Syndrome, Type 1f.
Cellular components related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:
Biological processes related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Usher Syndrome, Type 1f according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet