Details of Disease | DrugMAP

General Information of Disease (ID: DIS365S8)

Disease Name	Perrault syndrome 3
Synonyms	PRLTS3; deafness, autosomal recessive 81, formerly; deafness, autosomal recessive 81; CLPP Perrault syndrome; Perrault syndrome type 3; Perrault syndrome 3; Perrault syndrome caused by mutation in CLPP
Definition	Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.\|based on OMIM phenotypic series 220290.
Disease Hierarchy	DISG2YOV: Perrault syndrome DIS365S8: Perrault syndrome 3
Disease Identifiers	MONDO ID MONDO_0013588 UMLS CUI C3808414 OMIM ID 614129 MedGen ID 814744

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLPP	OTEPHG0S	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.