Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare skin diseases

Rare allergic disease

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 615508

Orphanet ⁵⁹ ORPHA369992

ICD10 via Orphanet ³⁴ Q82.8

MedGen ⁴² C3809719 CN181198

MeSH ⁴⁴ D003873 D007039 D007645

UMLS ⁷³ C3809719

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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

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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:

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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

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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

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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

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

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

⁴¹

Skin

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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 )	Schlipf N.A....Fischer J.	2016
2	[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)]. ( 26169895 )	Dereure O.	2015

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

Genes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DSG1	Desmoglein 1	Protein Coding	1379.33	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23974871
2	DSP	Desmoplakin	Protein Coding	350	Causative germline mutation ⁵⁹
3	DSG1-AS1	DSG1 Antisense RNA 1	RNA Gene	8.54	GeneCards inferred via : Variants (show sections)

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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

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

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

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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	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.41	DSG1 DSP
2	Apoptotic cleavage of cellular proteins ⁶⁶ Show member pathways Apoptotic cleavage of cell adhesion proteins ⁶⁶ Apoptotic execution phase ⁶⁶ Caspase-mediated cleavage of cytoskeletal proteins ⁶⁶	10.69	DSG1 DSP

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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

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