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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): 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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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

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: 32071239Free PMC Article

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

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

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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