Details of Disease

General Information of Disease (ID: DISPLHUS)

Disease Name Usher syndrome type 3B
Synonyms USHER syndrome, type IIIB; Usher syndrome, type 3B; USH3B; Usher syndrome type IIIB; HARS Usher syndrome; Usher syndrome caused by mutation in HARS
Definition Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DISRAL84: Usher syndrome type 3
DISPLHUS: Usher syndrome type 3B
Disease Identifiers
MONDO ID
MONDO_0013788
UMLS CUI
C3281066
OMIM ID
614504
MedGen ID
482696

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ESPN OT7Z6LX2 Limited Autosomal recessive [1]
HARS2 OTC8X3H9 Disputed Genetic Variation [2]
HARS1 OTHOEOTS Strong Autosomal recessive [3]
------------------------------------------------------------------------------------

References

1 Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.
2 The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.Biochemistry. 2017 Jul 18;56(28):3619-3631. doi: 10.1021/acs.biochem.7b00114. Epub 2017 Jul 7.
3 Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.