Details of Disease | DrugMAP

General Information of Disease (ID: DISPK28T)

Disease Name	Acne inversa, familial, 1
Synonyms	acne inversa, familial; ACNINV1; hidradenitis suppurativa, familial; acne inversa, familial, 1; NCSTN familial acne inversa; familial acne inversa caused by mutation in NCSTN; acne inversa, familial, type 1
Definition	Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.
Disease Hierarchy	DIS7DVKA: Familial acne inversa DISPK28T: Acne inversa, familial, 1
Disease Identifiers	MONDO ID MONDO_0007728 UMLS CUI C4551962 OMIM ID 142690 MedGen ID 1631104

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
NCSTN	OT5QBTA4	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.