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 60
Non-Inflammatory Generalized Peeling Skin Syndrome Type a. 60
Non-Inflammatory Peeling Skin Syndrome Type a 60
Generalized Peeling Skin Syndrome Type a 60
Generalized Deciduous Skin Type a 60
Pss Type a 60

Characteristics:

Orphanet epidemiological data:

60
peeling skin syndrome type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 Q80.8
Orphanet 60 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 3 and peeling skin syndrome 2. An important gene associated with Peeling Skin Syndrome Type a is CHST8 (Carbohydrate Sulfotransferase 8). 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 3 31.1 CHST8 FLG2
2 peeling skin syndrome 2 11.4
3 generalized peeling skin syndrome 11.2
4 peeling skin syndrome 1 11.1
5 peeling skin syndrome 5 11.1
6 peeling skin syndrome 6 9.9
7 peeling skin syndrome 9.9

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:

42
Skin

Publications for Peeling Skin Syndrome Type a

Articles related to Peeling Skin Syndrome Type a:

# Title Authors Year
1
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. ( 29758285 )
2018

Variations for Peeling Skin Syndrome Type a

ClinVar genetic disease variations for Peeling Skin Syndrome Type a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHST8 NM_001127895.2(CHST8): c.229C> T (p.Arg77Trp) single nucleotide variant Pathogenic rs149660944 GRCh38 Chromosome 19, 33772017: 33772017
2 CHST8 NM_001127895.2(CHST8): c.229C> T (p.Arg77Trp) single nucleotide variant Pathogenic rs149660944 GRCh37 Chromosome 19, 34262922: 34262922

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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