PSS3
MCID: PLN021
MIFTS: 17

Peeling Skin Syndrome 3 (PSS3)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 3

MalaCards integrated aliases for Peeling Skin Syndrome 3:

Name: Peeling Skin Syndrome 3 58 76 30 6 74
Pss3 58 76
Skin, Peeling Syndrome, Type 3 41

Characteristics:

OMIM:

58
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:

33
peeling skin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616265
MeSH 45 D003873
SNOMED-CT via HPO 70 258211005
UMLS 74 C4015729

Summaries for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot : 76 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, is also known as pss3. 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 : 58 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

Symptoms & Phenotypes for Peeling Skin Syndrome 3

Human phenotypes related to Peeling Skin Syndrome 3:

33
# Description HPO Frequency HPO Source Accession
1 white scaling skin 33 HP:0040190

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
normal hair

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

Clinical features from OMIM:

616265

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 30 CHST8

Anatomical Context for Peeling Skin Syndrome 3

MalaCards organs/tissues related to Peeling Skin Syndrome 3:

42
Skin

Publications for Peeling Skin Syndrome 3

Variations for Peeling Skin Syndrome 3

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

76
# 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_001127895.2(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 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 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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