MCID: ERY061
MIFTS: 33

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige

Categories: Genetic diseases, Skin diseases, Immune diseases, Blood diseases, Rare diseases, Metabolic 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 57 29 6 40 73
Sam Syndrome 57 59 75
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 57 75
Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome 57 75
Epkhe 57 75
Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome 59
Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome 59
Dermatitis, Exfoliative 44

Characteristics:

Orphanet epidemiological data:

59
severe dermatitis-multiple allergies-metabolic wasting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 palmoplantar keratoderma and hypotrichosis

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 13)
# Related Disease Score Top Affiliating Genes
1 exfoliative dermatitis 11.5
2 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 10.9
3 dermatitis 10.2
4 striate palmoplantar keratoderma 9.9 DSG1 DSP
5 autoimmune disease of skin and connective tissue 9.8 DSG1 DSP
6 bullous skin disease 9.8 DSG1 DSP
7 paraneoplastic pemphigus 9.8 DSG1 DSP
8 palmoplantar keratosis 9.8 DSG1 DSP
9 pemphigus vulgaris 9.7 DSG1 DSP
10 keratosis 9.7 DSG1 DSP
11 pemphigus 9.6 DSG1 DSP
12 bullous pemphigoid 9.5 DSG1 DSP
13 skin disease 9.2 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,...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 hypotrichosis 32 HP:0001006
3 erythroderma 32 HP:0001019
4 growth delay 32 HP:0001510
5 recurrent skin infections 32 HP:0001581
6 ventricular septal defect 32 occasional (7.5%) HP:0001629
7 pulmonic stenosis 32 occasional (7.5%) HP:0001642
8 recurrent respiratory infections 32 HP:0002205
9 hypernatremia 32 HP:0003228
10 psoriasiform dermatitis 32 HP:0003765
11 acantholysis 32 HP:0100792

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

Search Clinical Trials , 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 29 DSG1

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

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

41
Skin

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

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

# Title Authors Year
1
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome. ( 26288349 )
2016
2
[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)]. ( 26169895 )
2015

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 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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