Details of Disease | DrugMAP

General Information of Disease (ID: DIS1A5FE)

Disease Name	Peeling skin syndrome 6
Synonyms	PSS6; peeling skin syndrome 6
Disease Hierarchy	DISCIZYS: Peeling skin syndrome DIS1A5FE: Peeling skin syndrome 6
Disease Identifiers	MONDO ID MONDO_0054852 UMLS CUI C4748093 OMIM ID 618084 MedGen ID 1648406

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
CHST8	OTQT4TKR	Strong	GermlineCausalMutation	[1]
FLG2	OTIIKCFS	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.