Generalized Peeling Skin Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Congenital ichthyosis

Other congenital ichthyosis

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

ICD10 via Orphanet ³³ Q80.8

Orphanet ⁵⁸ ORPHA263543

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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.

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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:

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Symptoms & Phenotypes for Generalized Peeling Skin Syndrome

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Drugs & Therapeutics for Generalized Peeling Skin Syndrome

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

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Genetic Tests for Generalized Peeling Skin Syndrome

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Anatomical Context for Generalized Peeling Skin Syndrome

MalaCards organs/tissues related to Generalized Peeling Skin Syndrome:

⁴⁰

Skin

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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	Telem DF...Sprecher E	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	Cabral RM...Christiano AM	22289416	2012
3	Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. ⁶	Mallet A...Hohl D	23957618	2013
4	Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. ⁶	Israeli S...Sprecher E	21191406	2011
5	Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. ⁶	Oji V...Hennies HC	20691404	2010
6	Peeling skin syndrome: a clinical, ultrastructural and biochemical study. ⁶	Mevorah B...Siegenthaler G	2434123	1987
7	PLACK syndrome resulting from a novel homozygous variant in CAST. ⁶¹	Boggs JME...Irvine AD	33010050	2020
8	Safety Profile of High-Dose Botulinum Toxin Type A in Post-Stroke Spasticity Treatment. ⁶¹	Baricich A...Invernizzi M	30209743	2018
9	Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. ⁶¹	Teye K...Hashimoto T	24794518	2014
10	Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. ⁶¹	Bowden PE	21307953	2011
11	Generalized peeling skin syndrome: Case report and review of the literature. ⁶¹	Kharfi M...Kamoun MR	20233558	2010

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Genes for Generalized Peeling Skin Syndrome

Genes related to Generalized Peeling Skin Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CDSN	Corneodesmosin	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	2434123 23957618 22146835 (more) 21191406 20691404
2	TGM5	Transglutaminase 5	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶

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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

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Expression for Generalized Peeling Skin Syndrome

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

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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	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	12.17	TGM5 CDSN
2	Keratinization ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	11.08	TGM5 CDSN

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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

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Sources for Generalized Peeling Skin Syndrome

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