MCID: PLN016
MIFTS: 15

Peeling Skin Syndrome Type a

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome Type a

MalaCards integrated aliases for Peeling Skin Syndrome Type a:

Name: Peeling Skin Syndrome Type a 58
Non-Inflammatory Generalized Peeling Skin Syndrome Type a. 58
Non-Inflammatory Peeling Skin Syndrome Type a 58
Generalized Peeling Skin Syndrome Type a 58
Generalized Deciduous Skin Type a 58
Pss Type a 58

Characteristics:

Orphanet epidemiological data:

58
peeling skin syndrome type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q80.8
Orphanet 58 ORPHA263548

Summaries for Peeling Skin Syndrome Type a

MalaCards based summary : Peeling Skin Syndrome Type a, also known as non-inflammatory generalized peeling skin syndrome type a., is related to peeling skin syndrome and peeling skin syndrome 2. An important gene associated with Peeling Skin Syndrome Type a is FLG2 (Filaggrin Family Member 2). Affiliated tissues include skin.

Related Diseases for Peeling Skin Syndrome Type a

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 1 Peeling Skin Syndrome 4
Peeling Skin Syndrome 2 Peeling Skin Syndrome 3
Peeling Skin Syndrome 5 Peeling Skin Syndrome 6
Peeling Skin Syndrome Type C Peeling Skin Syndrome Type a

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

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 29.3 FLG2 CHST8
2 peeling skin syndrome 2 11.4
3 generalized peeling skin syndrome 11.2
4 peeling skin syndrome 1 11.0
5 peeling skin syndrome 3 11.0
6 peeling skin syndrome 5 11.0
7 peeling skin syndrome 6 10.1

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



Diseases related to Peeling Skin Syndrome Type a

Symptoms & Phenotypes for Peeling Skin Syndrome Type a

Drugs & Therapeutics for Peeling Skin Syndrome Type a

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome Type a

Genetic Tests for Peeling Skin Syndrome Type a

Anatomical Context for Peeling Skin Syndrome Type a

MalaCards organs/tissues related to Peeling Skin Syndrome Type a:

40
Skin

Publications for Peeling Skin Syndrome Type a

Articles related to Peeling Skin Syndrome Type a:

# Title Authors PMID Year
1
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. 61 6
22289416 2012
2
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. 61
29758285 2018
3
Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. 61
24794518 2014
4
Peeling skin diseases: 21 cases from Turkey and a review of the literature. 61
21711468 2012
5
Generalized peeling skin syndrome: Case report and review of the literature. 61
20233558 2010

Variations for Peeling Skin Syndrome Type a

ClinVar genetic disease variations for Peeling Skin Syndrome Type a:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST8 NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) SNV Uncertain significance 183645 rs149660944 GRCh37: 19:34262922-34262922
GRCh38: 19:33772017-33772017

Expression for Peeling Skin Syndrome Type a

Search GEO for disease gene expression data for Peeling Skin Syndrome Type a.

Pathways for Peeling Skin Syndrome Type a

GO Terms for Peeling Skin Syndrome Type a

Sources for Peeling Skin Syndrome Type a

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....