Details of Disease

General Information of Disease (ID: DIS35574)

• Disease Name: Peeling skin syndrome 1
• Synonyms: skin peeling, familial continuous generalised; keratolysis exfoliativa congenita; skin peeling, familial continuous generalized; PSS1; deciduous skin; PSS; inflammatory peeling skin syndrome; generalized peeling skin syndrome type B; PSS type B; peeling skin syndrome caused by mutation in CDSN; peeling skin syndrome type B; peeling skin syndrome 1; generalized deciduous skin type B; generalised deciduous skin type B; generalised peeling skin syndrome type B; CDSN peeling skin syndrome
• Definition: Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.
• Disease Hierarchy:
  DISCIZYS: Peeling skin syndrome
  DISITXLT: Generalized peeling skin syndrome
  DIS35574: Peeling skin syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0024548
  MESH ID: C564818
  UMLS CUI: C1849193
  OMIM ID: 270300
  MedGen ID: 336530
  Orphanet ID: 263553
  SNOMED CT ID: 724838009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCR8	TTE836A	Strong	Altered Expression	[1]
IFNL1	TTM624L	Strong	Altered Expression	[2]
BLK	TTNDSC3	Definitive	Genetic Variation	[3]
VIPR2	TT4O5P0	Definitive	Altered Expression	[4]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCL25	OTLWJ8CJ	Strong	Biomarker	[5]
CDSN	OTQW4HV6	Strong	Autosomal recessive	[6]
CHST8	OTQT4TKR	Strong	Genetic Variation	[7]
FLG2	OTIIKCFS	Strong	Biomarker	[8]
PHF21A	OTU3FFG4	Strong	Biomarker	[9]
CDC42EP1	OTT525WA	Definitive	Biomarker	[10]
CNTRL	OTQI3VBA	Definitive	Biomarker	[10]
CST4	OTXXM8EH	Definitive	Altered Expression	[11]
EDA	OTAKS5WS	Definitive	Altered Expression	[12]
FAM167A	OT9JF3JQ	Definitive	Genetic Variation	[3]
FCRL4	OT3DVTRV	Definitive	Biomarker	[13]
GTF2I	OTUYL1TQ	Definitive	Genetic Variation	[14]
KLRB1	OTQ2959Y	Definitive	Biomarker	[15]
RO60	OTLGM5A8	Definitive	Genetic Variation	[16]
SPINK5	OT61IIAO	Definitive	Genetic Variation	[17]
SSB	OTCCTPBR	Definitive	Altered Expression	[18]
SSNA1	OTWARAMR	Definitive	Biomarker	[19]

References

• [1] Upregulation and pathogenic roles of CCL18-CCR8 axis in IgG4-related disease.Mod Rheumatol. 2020 Jul;30(4):729-737. doi: 10.1080/14397595.2019.1632061. Epub 2019 Aug 8.
• [2] Increased expression of interferon- in minor salivary glands of patients with primary Sjgren's syndrome and its synergic effect with interferon- on salivary gland epithelial cells.Clin Exp Rheumatol. 2018 May-Jun;36 Suppl 112(3):31-40. Epub 2017 Apr 18.
• [3] Polymorphisms in the FAM167A-BLK, but not BANK1, are associated with primary Sjgren's syndrome in a Han Chinese population.Clin Exp Rheumatol. 2013 Sep-Oct;31(5):704-10. Epub 2013 Jul 30.
• [4] Monocytes from Sjgren's syndrome patients display increased vasoactive intestinal peptide receptor 2 expression and impaired apoptotic cell phagocytosis.Clin Exp Immunol. 2014 Sep;177(3):662-70. doi: 10.1111/cei.12378.
• [5] Decreased circulating CXCR3+CCR9+T helper cells are associated with elevated levels of their ligands CXCL10 and CCL25 in the salivary gland of patients with Sjgren's syndrome to facilitate their concerted migration.Scand J Immunol. 2020 Mar;91(3):e12852. doi: 10.1111/sji.12852. Epub 2019 Dec 13.
• [6] 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.
• [7] The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.Glycobiology. 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018.
• [8] Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. J Invest Dermatol. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Epub 2018 Jun 27.
• [9] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.
• [10] Antibodies against citrullinated alpha enolase peptides in primary Sjogren's syndrome.Clin Immunol. 2017 Oct;183:300-303. doi: 10.1016/j.clim.2017.09.012. Epub 2017 Sep 14.
• [11] Cystatin S-a candidate biomarker for severity of submandibular gland involvement in Sjgren's syndrome.Rheumatology (Oxford). 2017 Jun 1;56(6):1031-1038. doi: 10.1093/rheumatology/kew501.
• [12] X-linked ectodermal dysplasia receptor (XEDAR) gene silencing prevents caspase-3-mediated apoptosis in Sjgren's syndrome.Clin Exp Med. 2017 Feb;17(1):111-119. doi: 10.1007/s10238-015-0404-z. Epub 2015 Dec 11.
• [13] FcRL4(+) B-cells in salivary glands of primary Sjgren's syndrome patients.J Autoimmun. 2017 Jul;81:90-98. doi: 10.1016/j.jaut.2017.03.012. Epub 2017 Apr 6.
• [14] Identification of susceptibility gene associated with female primary Sjgren's syndrome in Han Chinese by genome-wide association study.Hum Genet. 2016 Nov;135(11):1287-1294. doi: 10.1007/s00439-016-1716-0. Epub 2016 Aug 8.
• [15] Clinical relevance of ROR positive and negative subsets of CD161+CD4+ T cells in primary Sjgren's syndrome.Rheumatology (Oxford). 2017 Feb;56(2):303-312. doi: 10.1093/rheumatology/kew360. Epub 2016 Nov 1.
• [16] Autoantibody repertoire to Ro/SSA and La/SSB antigens in patients with primary and secondary Sjgren's syndrome.J Autoimmun. 1996 Aug;9(4):537-44. doi: 10.1006/jaut.1996.0072.
• [17] Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.Dermatology. 2005;210(4):308-14. doi: 10.1159/000084755.
• [18] Hypokalaemia in Sjgren's syndrome: the missing piece.Clin Med (Lond). 2017 Feb;17(1):40-42. doi: 10.7861/clinmedicine.17-1-40.
• [19] The orthologue of Sjgren's syndrome nuclear autoantigen 1 (SSNA1) in Trypanosoma brucei is an immunogenic self-assembling molecule.PLoS One. 2012;7(2):e31842. doi: 10.1371/journal.pone.0031842. Epub 2012 Feb 20.