Details of Disease | DrugMAP

General Information of Disease (ID: DIS1UGC5)

Disease Name	Peeling skin syndrome 5
Synonyms	peeling skin syndrome type 5; peeling skin syndrome caused by mutation in SERPINB8; PSS5; peeling skin syndrome 5; SERPINB8 peeling skin syndrome; peeling skin syndrome 5; PSS5
Definition	Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.
Disease Hierarchy	DISCIZYS: Peeling skin syndrome DISH776B: Exfoliative ichthyosis DIS1UGC5: Peeling skin syndrome 5
Disease Identifiers	MONDO ID MONDO_0014923 UMLS CUI C4310710 OMIM ID 617115 MedGen ID 934677

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
SERPINB8	OT5T4Y5R	Strong	Autosomal recessive	[1]
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References

1	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.