Details of Disease

General Information of Disease (ID: DISCAHXP)

Disease Name Perrault syndrome 4
Synonyms PRLTS4; Perrault syndrome 4; Perrault syndrome type 4; LARS2 Perrault syndrome; Perrault syndrome caused by mutation in LARS2
Definition Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.
Disease Hierarchy
DISG2YOV: Perrault syndrome
DISCAHXP: Perrault syndrome 4
Disease Identifiers
MONDO ID
MONDO_0014126
UMLS CUI
C3809105
OMIM ID
615300
MedGen ID
815435

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
LARS2 DEP7BTH Strong Autosomal recessive [1]
LARS2 DEP7BTH Strong CausalMutation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLPP OTEPHG0S Limited Biomarker [3]
LARS2 OTJS37LE Strong Autosomal recessive [1]
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References

1 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
2 First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.J Hum Genet. 2016 Apr;61(4):295-300. doi: 10.1038/jhg.2015.149. Epub 2015 Dec 10.
3 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.