MCID: PLN020
MIFTS: 21

Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

MalaCards integrated aliases for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

Name: Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 57 75 29 6 40
Plack 57 75
Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome 59
Plack Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of blistering skin in infancy with improvement over time


HPO:

32
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 616295
Orphanet 59 ORPHA444138
ICD10 via Orphanet 34 Q82.8

Summaries for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

UniProtKB/Swiss-Prot : 75 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads: An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma.

MalaCards based summary : Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads, also known as plack, is related to knuckle pads. An important gene associated with Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads is CAST (Calpastatin). Affiliated tissues include skin and tongue, and related phenotypes are palmoplantar keratoderma and leukonychia

Description from OMIM: 616295

Related Diseases for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Diseases related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 knuckle pads 9.0 CAST ERAP1

Symptoms & Phenotypes for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
widening of intercellular spaces
intraepidermal clefting with irregular acanthosis
electron microscopy
more
Head And Neck Mouth:
angular cheilitis
leukokeratosis of tongue
leukokeratosis of buccal mucosa

Skin Nails Hair Skin:
palmoplantar keratoderma
knuckle pads
generalized peeling skin
acral punctate keratosis
hyperkeratotic micropapules over dorsum of interphalangeal joints

Skin Nails Hair Nails:
proximal leukonychia
mild distal onycholysis


Clinical features from OMIM:

616295

Human phenotypes related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 leukonychia 32 HP:0001820
3 epidermal acanthosis 32 HP:0025092
4 angular cheilitis 32 HP:0030318
5 scaling skin 32 HP:0040189

Drugs & Therapeutics for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Search Clinical Trials , NIH Clinical Center for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Genetic Tests for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Genetic tests related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

# Genetic test Affiliating Genes
1 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 29 CAST

Anatomical Context for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

MalaCards organs/tissues related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

41
Skin, Tongue

Publications for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Variations for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

ClinVar genetic disease variations for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAST NM_001190442.1(CAST): c.481dupA (p.Ile161Asnfs) duplication Pathogenic rs786205140 GRCh38 Chromosome 5, 96737879: 96737879
2 CAST NM_001190442.1(CAST): c.481dupA (p.Ile161Asnfs) duplication Pathogenic rs786205140 GRCh37 Chromosome 5, 96073583: 96073583
3 CAST NM_001190442.1(CAST): c.298A> T (p.Lys100Ter) single nucleotide variant Pathogenic rs786204842 GRCh37 Chromosome 5, 96065427: 96065427
4 CAST NM_001190442.1(CAST): c.298A> T (p.Lys100Ter) single nucleotide variant Pathogenic rs786204842 GRCh38 Chromosome 5, 96729723: 96729723
5 CAST NM_001190442.1(CAST): c.1585delG (p.Val529Trpfs) deletion Pathogenic rs786205141 GRCh37 Chromosome 5, 96098017: 96098017
6 CAST NM_001190442.1(CAST): c.1585delG (p.Val529Trpfs) deletion Pathogenic rs786205141 GRCh38 Chromosome 5, 96762313: 96762313

Expression for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Search GEO for disease gene expression data for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads.

Pathways for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

GO Terms for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Cellular components related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 CAST ERAP1

Sources for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

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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