Details of Disease | DrugMAP

General Information of Disease (ID: DIS1TEJB)

Disease Name	Severe dermatitis-multiple allergies-metabolic wasting syndrome
Synonyms	severe dermatitis, multiple allergies, and metabolic wasting syndrome; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE; Sam syndrome; EPKHE; SAM syndrome; congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS1TEJB: Severe dermatitis-multiple allergies-metabolic wasting syndrome
Disease Identifiers	MONDO ID MONDO_0014218 UMLS CUI C3809719 OMIM ID 615508 MedGen ID 816049 Orphanet ID 369992 SNOMED CT ID 774211005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSP	OTB2MOP8	Supportive	Autosomal recessive	[1]
DSG1	OT11HC3A	Definitive	Autosomal dominant	[2]
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References

1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.