MCID: PLN021
MIFTS: 23

Peeling Skin Syndrome 3

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 3

MalaCards integrated aliases for Peeling Skin Syndrome 3:

Name: Peeling Skin Syndrome 3 57 75 29 6 73
Pss3 57 75
Non-Inflammatory Generalized Peeling Skin Syndrome Type a. 59
Non-Inflammatory Peeling Skin Syndrome Type a 59
Generalized Peeling Skin Syndrome Type a 59
Generalized Deciduous Skin Type a 59
Skin, Peeling Syndrome, Type 3 40
Peeling Skin Syndrome Type a 59
Pss Type a 59

Characteristics:

Orphanet epidemiological data:

59
peeling skin syndrome type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in second half of the first decade of life
one consanguineous pakistani family has been described (last curated march 2015)


HPO:

32
peeling skin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 616265
Orphanet 59 ORPHA263548
ICD10 via Orphanet 34 Q80.8
MeSH 44 D003873
SNOMED-CT via HPO 69 258211005
UMLS 73 C4015729

Summaries for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot : 75 Peeling skin syndrome 3: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life.

MalaCards based summary : Peeling Skin Syndrome 3, also known as pss3, is related to peeling skin syndrome 2 and generalized peeling skin syndrome. An important gene associated with Peeling Skin Syndrome 3 is CHST8 (Carbohydrate Sulfotransferase 8). Affiliated tissues include skin, and related phenotype is white scaling skin.

OMIM : 57 Peeling skin syndrome-3 is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (616265)

Related Diseases for Peeling Skin Syndrome 3

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 Type C

Diseases related to Peeling Skin Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 2 11.2
2 generalized peeling skin syndrome 11.0
3 peeling skin syndrome 1 10.9
4 peeling skin syndrome 5 10.9
5 peeling skin syndrome 9.8

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 3:



Diseases related to Peeling Skin Syndrome 3

Symptoms & Phenotypes for Peeling Skin Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
white scaling skin, most prominent over upper and lower extremities
no erythema
no pruritis

Skin Nails Hair Hair:
normal hair


Clinical features from OMIM:

616265

Human phenotypes related to Peeling Skin Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 white scaling skin 32 HP:0040190

Drugs & Therapeutics for Peeling Skin Syndrome 3

Search Clinical Trials , NIH Clinical Center for Peeling Skin Syndrome 3

Genetic Tests for Peeling Skin Syndrome 3

Genetic tests related to Peeling Skin Syndrome 3:

# Genetic test Affiliating Genes
1 Peeling Skin Syndrome 3 29 CHST8

Anatomical Context for Peeling Skin Syndrome 3

MalaCards organs/tissues related to Peeling Skin Syndrome 3:

41
Skin

Publications for Peeling Skin Syndrome 3

Articles related to Peeling Skin Syndrome 3:

# 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 3

UniProtKB/Swiss-Prot genetic disease variations for Peeling Skin Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 CHST8 p.Arg77Trp VAR_067723 rs149660944

ClinVar genetic disease variations for Peeling Skin Syndrome 3:

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

Expression for Peeling Skin Syndrome 3

Search GEO for disease gene expression data for Peeling Skin Syndrome 3.

Pathways for Peeling Skin Syndrome 3

GO Terms for Peeling Skin Syndrome 3

Sources for Peeling Skin Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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