Details of Disease | DrugMAP

General Information of Disease (ID: DISAXCOV)

Disease Name	Acne inversa, familial, 2
Synonyms	ACNINV2; acne inversa, familial, 2, with or without Dowling-Degos disease; familial acne inversa caused by mutation in PSENEN; PSENEN familial acne inversa; acne inversa, familial, type 2; acne inversa, familial, 2
Definition	Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.
Disease Hierarchy	DIS7DVKA: Familial acne inversa DISAXCOV: Acne inversa, familial, 2
Disease Identifiers	MONDO ID MONDO_0013397 UMLS CUI C3151037 OMIM ID 613736 MedGen ID 462387

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSENEN	OTJ7M7G9	Strong	Autosomal dominant	[1]
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References

1	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.