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EPKHE
MCID: ERY061
MIFTS: 35
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Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (EPKHE)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:
Name: Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige
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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:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases Immune diseases Blood diseases
ICD10:
35
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UniProtKB/Swiss-Prot
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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
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Human phenotypes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:33 (show all 13)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:615508 |
Interventional clinical trials:
Cochrane evidence based reviews: dermatitis, exfoliative |
MalaCards organs/tissues related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:42
Skin
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Articles related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:
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Genes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:6
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Search
GEO
for disease gene expression data for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige.
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Cellular components related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:
Biological processes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:
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