MCID: GNR027
MIFTS: 21

Generalized Peeling Skin Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Generalized Peeling Skin Syndrome

MalaCards integrated aliases for Generalized Peeling Skin Syndrome:

Name: Generalized Peeling Skin Syndrome 20 58
Generalized Deciduous Skin 20 58
Generalized Pss 20 58

Characteristics:

Orphanet epidemiological data:

58
generalized peeling skin syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q80.8
Orphanet 58 ORPHA263543

Summaries for Generalized Peeling Skin Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 263543DefinitionGeneralized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Generalized Peeling Skin Syndrome, also known as generalized deciduous skin, is related to peeling skin syndrome 1 and peeling skin syndrome. An important gene associated with Generalized Peeling Skin Syndrome is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin.

Related Diseases for Generalized Peeling Skin Syndrome

Diseases related to Generalized Peeling Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 1 31.3 TGM5 CDSN
2 peeling skin syndrome 29.6 TGM5 CDSN
3 peeling skin syndrome type a 11.5
4 peeling skin syndrome type c 11.3
5 ichthyosis 10.1
6 autosomal recessive congenital ichthyosis 9.5 TGM5 CDSN

Graphical network of the top 20 diseases related to Generalized Peeling Skin Syndrome:



Diseases related to Generalized Peeling Skin Syndrome

Symptoms & Phenotypes for Generalized Peeling Skin Syndrome

Drugs & Therapeutics for Generalized Peeling Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Generalized Peeling Skin Syndrome

Genetic Tests for Generalized Peeling Skin Syndrome

Anatomical Context for Generalized Peeling Skin Syndrome

MalaCards organs/tissues related to Generalized Peeling Skin Syndrome:

40
Skin

Publications for Generalized Peeling Skin Syndrome

Articles related to Generalized Peeling Skin Syndrome:

(show all 11)
# Title Authors PMID Year
1
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. 6 61
22146835 2012
2
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. 6 61
22289416 2012
3
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. 6
23957618 2013
4
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. 6
21191406 2011
5
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. 6
20691404 2010
6
Peeling skin syndrome: a clinical, ultrastructural and biochemical study. 6
2434123 1987
7
PLACK syndrome resulting from a novel homozygous variant in CAST. 61
33010050 2020
8
Safety Profile of High-Dose Botulinum Toxin Type A in Post-Stroke Spasticity Treatment. 61
30209743 2018
9
Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. 61
24794518 2014
10
Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. 61
21307953 2011
11
Generalized peeling skin syndrome: Case report and review of the literature. 61
20233558 2010

Variations for Generalized Peeling Skin Syndrome

ClinVar genetic disease variations for Generalized Peeling Skin Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDSN NM_001264.5(CDSN):c.175A>T (p.Lys59Ter) SNV Pathogenic 30269 rs387906841 6:31085217-31085217 6:31117440-31117440
2 CDSN NM_001264.5(CDSN):c.746del (p.Gly249fs) Deletion Pathogenic 157563 rs672601343 6:31084646-31084646 6:31116869-31116869
3 CDSN NM_001264.5(CDSN):c.164_167dup (p.Thr57fs) Duplication Pathogenic 157564 rs606231274 6:31085224-31085225 6:31117447-31117448
4 CDSN NM_001264.5(CDSN):c.424G>T (p.Gly142Ter) SNV Pathogenic 157565 rs606231275 6:31084968-31084968 6:31117191-31117191
5 TGM5 NM_201631.4(TGM5):c.640del (p.Leu214fs) Deletion Pathogenic 157570 rs606231277 15:43545748-43545748 15:43253550-43253550
6 CDSN NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser) SNV Likely pathogenic 802195 rs1246486951 6:31083933-31083933 6:31116156-31116156
7 TGM5 NM_201631.4(TGM5):c.684+1G>A SNV Likely pathogenic 803071 rs755087362 15:43545703-43545703 15:43253505-43253505
8 CHST8 NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) SNV Uncertain significance 183645 rs149660944 19:34262922-34262922 19:33772017-33772017
9 TGM5 NM_201631.4(TGM5):c.753C>T (p.Asn251=) SNV Uncertain significance 316058 rs374414821 15:43545066-43545066 15:43252868-43252868
10 CDSN NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn) SNV Benign 802196 rs117951780 6:31084034-31084034 6:31116257-31116257

Expression for Generalized Peeling Skin Syndrome

Search GEO for disease gene expression data for Generalized Peeling Skin Syndrome.

Pathways for Generalized Peeling Skin Syndrome

Pathways related to Generalized Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 TGM5 CDSN
2
Show member pathways
11.08 TGM5 CDSN

GO Terms for Generalized Peeling Skin Syndrome

Biological processes related to Generalized Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 TGM5 CDSN
2 epidermis development GO:0008544 8.62 TGM5 CDSN

Sources for Generalized Peeling Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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