EPKHE
MCID: ERY061
MIFTS: 35

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (EPKHE)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards integrated aliases for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Name: Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 58 30 6 41 74
Sam Syndrome 58 60 76
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 58 76
Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome 58 76
Epkhe 58 76
Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome 60
Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome 60
Dermatitis, Exfoliative 45

Characteristics:

Orphanet epidemiological data:

60
severe dermatitis-multiple allergies-metabolic wasting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers exhibit palmoplantar hyperkeratosis (see )
death in early childhood has been reported in some presumed homozygotes
two families described (last curated november 2013)


HPO:

33
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

UniProtKB/Swiss-Prot : 76 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.

MalaCards based summary : Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige, also known as sam syndrome, is related to exfoliative dermatitis and short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. An important gene associated with Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Keratinization and Apoptotic cleavage of cellular proteins. Affiliated tissues include skin, and related phenotypes are ventricular septal defect and pulmonic stenosis

Description from OMIM: 615508

Related Diseases for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 exfoliative dermatitis 11.8
2 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.1
3 dermatitis 10.3
4 striate palmoplantar keratoderma 9.9 DSG1 DSP
5 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 DSG1 DSP
6 autoimmune disease of skin and connective tissue 9.9 DSG1 DSP
7 bullous skin disease 9.9 DSG1 DSP
8 skin disease 9.9 DSG1 DSP
9 cellulitis 9.9 DSG1 DSP
10 paraneoplastic pemphigus 9.9 DSG1 DSP
11 pemphigus 9.9 DSG1 DSP
12 palmoplantar keratosis 9.8 DSG1 DSP
13 keratosis 9.8 DSG1 DSP
14 pemphigus vulgaris 9.7 DSG1 DSP
15 bullous pemphigoid 9.6 DSG1 DSP

Graphical network of the top 20 diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:



Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige

Symptoms & Phenotypes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Human phenotypes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 33 occasional (7.5%) HP:0001629
2 pulmonic stenosis 33 occasional (7.5%) HP:0001642
3 recurrent respiratory infections 33 HP:0002205
4 palmoplantar keratoderma 33 HP:0000982
5 growth delay 33 HP:0001510
6 hypotrichosis 33 HP:0001006
7 erythroderma 33 HP:0001019
8 recurrent skin infections 33 HP:0001581
9 acantholysis 33 HP:0100792
10 psoriasiform dermatitis 33 HP:0003765
11 hypernatremia 33 HP:0003228
12 hypergranulosis 33 HP:0025114
13 orthokeratosis 33 HP:0040162

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
recurrent skin infections
erosions
erythroderma, generalized congenital
scaling
hyperkeratotic yellowish papules and plaques arranged linearly on palms and fingers
more
Growth Other:
growth retardation

Cardiovascular Vascular:
pulmonic stenosis, mild (in some patients)

Skin Nails Hair Skin Electron Microscopy:
uneven distribution of desmosomes in upper epidermis

Laboratory Abnormalities:
severe hypernatremia in neonatal period

Skin Nails Hair Hair:
hypotrichosis

Skin Nails Hair Skin Histology:
psoriasiform dermatitis
alternating parakeratosis and orthokeratosis
alternating hypogranulosis and hypergranulosis
widespread acantholysis within spinous and granular layers
subcorneal and intragranular separation

Cardiovascular Heart:
ventricular septal defect (in some patients)

Abdomen Gastrointestinal:
esophagitis, eosinophilic (in some patients)
esophageal reflux (in some patients)

Immunology:
markedly elevated ige levels
recurrent skin and respiratory infections

Clinical features from OMIM:

615508

Drugs & Therapeutics for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM) Unknown status NCT02492399 Not Applicable

Search NIH Clinical Center for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige

Cochrane evidence based reviews: dermatitis, exfoliative

Genetic Tests for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Genetic tests related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

# Genetic test Affiliating Genes
1 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 30 DSG1

Anatomical Context for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

MalaCards organs/tissues related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

42
Skin

Publications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Articles related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

# Title Authors Year
1
SAM syndrome is characterized by extensive phenotypic heterogeneity. ( 29604126 )
2018
2
Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting). ( 27632246 )
2017
3
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome. ( 26288349 )
2016
4
[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)]. ( 26169895 )
2015
5
Sinobronchial allergic mycosis: the SAM syndrome. ( 12006459 )
2002

Variations for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

ClinVar genetic disease variations for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG1 NM_001942.3(DSG1): c.49-1G> A single nucleotide variant Pathogenic rs398122952 GRCh37 Chromosome 18, 28906543: 28906543
2 DSG1 NM_001942.3(DSG1): c.49-1G> A single nucleotide variant Pathogenic rs398122952 GRCh38 Chromosome 18, 31326580: 31326580
3 DSG1 NM_001942.3(DSG1): c.1861delG (p.Ala621Glnfs) deletion Pathogenic rs398122400 GRCh37 Chromosome 18, 28923928: 28923928
4 DSG1 NM_001942.3(DSG1): c.1861delG (p.Ala621Glnfs) deletion Pathogenic rs398122400 GRCh38 Chromosome 18, 31343965: 31343965

Expression for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Search GEO for disease gene expression data for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige.

Pathways for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Pathways related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 DSG1 DSP
2
Show member pathways
10.69 DSG1 DSP

GO Terms for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

Cellular components related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.26 DSG1 DSP
2 cornified envelope GO:0001533 9.16 DSG1 DSP
3 ficolin-1-rich granule membrane GO:0101003 8.96 DSG1 DSP
4 desmosome GO:0030057 8.62 DSG1 DSP

Biological processes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.26 DSG1 DSP
2 keratinization GO:0031424 9.16 DSG1 DSP
3 cell-cell adhesion GO:0098609 8.96 DSG1 DSP
4 cornification GO:0070268 8.62 DSG1 DSP

Sources for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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