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Acne inversa, familial, 1(ACNINV1)

MedGen UID:: 1631104
•Concept ID:: C4551962
•: Disease or Syndrome

Synonyms:	ACNE INVERSA, FAMILIAL, 1; ACNINV1

Gene (location): Gene(s) directly associated with this condition or phenotype.	NCSTN (1q23.2)

Monarch Initiative:	MONDO:0007728
OMIM®:	142690

Definition

Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. [from MONDO]

Clinical features

From HPO

Atypical scarring of skin

MedGen UID:: 867415
•Concept ID:: C4021786
•: Pathologic Function

Atypically scarred skin .

See: Feature record | Search on this feature

Acne inversa

MedGen UID:: 57993
•Concept ID:: C0162836
•: Disease or Syndrome

A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.

See: Feature record | Search on this feature

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Abnormality of the immune system
- Acne inversa
Abnormality of the musculoskeletal system
- Atypical scarring of skin

Recent clinical studies

Etiology

Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation.

He Y, Wang W, Ma X, Duan Z, Wang B, Li M, Xu H
Dermatology 2024;240(1):119-131. Epub 2023 Jul 25 doi: 10.1159/000531978. PMID: 37490873

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Therapy

Essential requirement for nicastrin in marginal zone and B-1 B cell development.

Choi JH, Han J, Theodoropoulos PC, Zhong X, Wang J, Medler D, Ludwig S, Zhan X, Li X, Tang M, Gallagher T, Yu G, Beutler B
Proc Natl Acad Sci U S A 2020 Mar 3;117(9):4894-4901. Epub 2020 Feb 18 doi: 10.1073/pnas.1916645117. PMID: 32071239 Free PMC Article

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Prognosis

Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.

He Y, Xu H, Li C, Zhang X, Zhou P, Xiao X, Zhang W, Wu Y, Zeng R, Wang B
J Invest Dermatol 2019 Jan;139(1):124-134. Epub 2018 Aug 16 doi: 10.1016/j.jid.2018.07.020. PMID: 30120935

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Clinical prediction guides

PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.

Barthelson K, Dong Y, Newman M, Lardelli M
J Alzheimers Dis 2021;82(1):327-347. doi: 10.3233/JAD-210128. PMID: 34024832

Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.

He Y, Xu H, Li C, Zhang X, Zhou P, Xiao X, Zhang W, Wu Y, Zeng R, Wang B
J Invest Dermatol 2019 Jan;139(1):124-134. Epub 2018 Aug 16 doi: 10.1016/j.jid.2018.07.020. PMID: 30120935

See all (2)

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Acne inversa, familial, 1(ACNINV1)

Definition

Clinical features

Recent clinical studies

Etiology

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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