Details of Disease

General Information of Disease (ID: DIS7NJUZ)

Disease Name Acral peeling skin syndrome
Synonyms
peeling skin syndrome 2; peeling skin syndrome, acral type; PSS2; acral deciduous skin; peeling skin syndrome type 2; localised deciduous skin; localised PSS; acral PSS; acral peeling skin syndrome; localized PSS; localized deciduous skin
Definition Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Disease Hierarchy
DISCIZYS: Peeling skin syndrome
DIS7NJUZ: Acral peeling skin syndrome
Disease Identifiers
MONDO ID
MONDO_0012345
MESH ID
C536316
UMLS CUI
C1853354
OMIM ID
609796
MedGen ID
342862
Orphanet ID
263534
SNOMED CT ID
709416009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TGM5 DEW8QEH Strong Autosomal recessive [1]
TGM5 DEW8QEH Strong CausalMutation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSTA OT1K68KE Supportive Autosomal recessive [3]
TGM5 OTHI37BJ Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

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.
2 The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.Acta Derm Venereol. 2018 Apr 16;98(4):437-440. doi: 10.2340/00015555-2863.
3 Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.