Details of Disease

General Information of Disease (ID: DIS5PQ0K)

Disease Name Perrault syndrome 2
Synonyms PRLTS2; HARS2 Perrault syndrome; Perrault syndrome type 2; Perrault syndrome 2; Perrault syndrome caused by mutation in HARS2
Definition Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.
Disease Hierarchy
DISG2YOV: Perrault syndrome
DIS5PQ0K: Perrault syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013972
UMLS CUI
C3554105
OMIM ID
614926
MedGen ID
767019

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLPP OTEPHG0S Limited Biomarker [1]
HARS2 OTC8X3H9 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Hum Mol Genet. 2013 Dec 15;22(24):4871-87. doi: 10.1093/hmg/ddt338. Epub 2013 Jul 12.
2 Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.