Details of Disease

General Information of Disease (ID: DIS05EXP)

Disease Name Peeling skin syndrome type A
Synonyms
peeling skin syndrome 3; PSS3; generalized deciduous skin type A; PSS type A; generalised peeling skin syndrome type A; non-inflammatory generalized peeling skin syndrome type A.; non-inflammatory generalised peeling skin syndrome type A.; non-inflammatory peeling skin syndrome type A; generalized peeling skin syndrome type A; generalised deciduous skin type A; peeling skin syndrome type 3
Definition Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.
Disease Hierarchy
DISITXLT: Generalized peeling skin syndrome
DIS05EXP: Peeling skin syndrome type A
Disease Identifiers
MONDO ID
MONDO_0014555
UMLS CUI
C4015729
OMIM ID
616265
MedGen ID
864166
Orphanet ID
263548

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 Supportive Autosomal recessive [1]
FLG2 OTIIKCFS Supportive Autosomal recessive [2]
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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 Peeling skin syndrome associated with novel variant in FLG2 gene. Am J Med Genet A. 2017 Dec;173(12):3201-3204. doi: 10.1002/ajmg.a.38468. Epub 2017 Sep 8.