Details of Disease

General Information of Disease (ID: DISVMXR0)

Disease Name Peeling skin syndrome 4
Synonyms
ichthyosis bullosa of Siemens-like; PSS4; ichthyosis, exfoliative, autosomal recessive; peeling skin syndrome 4; peeling skin syndrome type 4; CSTA peeling skin syndrome; peeling skin syndrome caused by mutation in CSTA
Definition Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.
Disease Hierarchy
DISCIZYS: Peeling skin syndrome
DISH776B: Exfoliative ichthyosis
DISVMXR0: Peeling skin syndrome 4
Disease Identifiers
MONDO ID
MONDO_0011937
UMLS CUI
C4225407
OMIM ID
607936
MedGen ID
895692

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
CSTA OT1K68KE 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.