Information on ACNINV1

Basic details

Name: Acne inversa, familial 1 | Acronym: ACNINV1
Alt. names: familial acne inversa

Gene: NCSTN | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2010

Last updated on: 2023-05-17 17:29:13 by

OMIM: 142690

Orphanet: -

MONDO: 0024516

DOID: -

ClinGen:

Description

An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. [MONDO:patterns/hereditary]

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.