MCID: PLN021
MIFTS: 21

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 53 71 28 69
Pss3 53 71
Non-Inflammatory Generalized Peeling Skin Syndrome Type a. 55
Non-Inflammatory Peeling Skin Syndrome Type a 55
Generalized Peeling Skin Syndrome Type a 55
Generalized Deciduous Skin Type a 55
Peeling Skin Syndrome Type a 55
Pss Type a 55

Characteristics:

Orphanet epidemiological data:

55
peeling skin syndrome type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
peeling skin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 616265
Orphanet 55 ORPHA263548
ICD10 via Orphanet 33 Q80.8
MeSH 41 D003873
SNOMED-CT via HPO 65 258211005
UMLS 69 C4015729

Summaries for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot : 71 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 peeling skin syndrome 1, and has symptoms including white scaling skin An important gene associated with Peeling Skin Syndrome 3 is CHST8 (Carbohydrate Sulfotransferase 8). Affiliated tissues include skin.

OMIM : 53 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 peeling skin syndrome 1 10.9
3 peeling skin syndrome 5 10.9

Symptoms & Phenotypes for Peeling Skin Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 white scaling skin 31 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 28 CHST8

Anatomical Context for Peeling Skin Syndrome 3

MalaCards organs/tissues related to Peeling Skin Syndrome 3:

38
Skin

Publications for Peeling Skin Syndrome 3

Variations for Peeling Skin Syndrome 3

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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