Details of Disease | DrugMAP

General Information of Disease (ID: DISZRB2P)

Disease Name	Lethal acantholytic epidermolysis bullosa
Synonyms	EBLA; epidermolysis bullosa, lethal acantholytic; LAEB; lethal acantholytic epidermolysis bullosa
Definition	Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
Disease Hierarchy	DISB0VD1: Suprabasal epidermolysis bullosa simplex DISZRB2P: Lethal acantholytic epidermolysis bullosa
Disease Identifiers	MONDO ID MONDO_0012323 MESH ID C535493 UMLS CUI C1864826 OMIM ID 609638 MedGen ID 400622 Orphanet ID 158687 SNOMED CT ID 1230026002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
JUP	TTREN0G	Supportive	Autosomal recessive	[1]
JUP	TTREN0G	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
JUP	OTUH7VMO	Supportive	Autosomal recessive	[1]
DSP	OTB2MOP8	Strong	Autosomal recessive	[2]
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References

1	Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.
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.