Details of Disease | DrugMAP

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]
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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.