Details of Disease | DrugMAP

General Information of Disease (ID: DISLMXA5)

Disease Name	Perrault syndrome 6
Synonyms	PRLTS6; Perrault syndrome 6
Disease Hierarchy	DISG2YOV: Perrault syndrome DISLMXA5: Perrault syndrome 6
Disease Identifiers	MONDO ID MONDO_0033047 UMLS CUI C4479656 OMIM ID 617565 MedGen ID 1391447

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
ERAL1	OTSH78HD	Moderate	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152.