Genopathy
Gene-Disorder Association · Article
Gene
PSENEN
Presenilin Enhancer, Gamma-Secretase Subunit
Disorder
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
First reported 2016
Supporting publications 5
Key publication · gene–disorder Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.Chinese medical journal · 2016
Key publication · disorder [Genodermatosis in a pair of brothers: Dowling-Degos, Grover, Darier, Hailey-Hailey or Galli-Galli disease?].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 1982
Manually curated
Association Review

In brief

The association between PSENEN (Presenilin Enhancer, Gamma-Secretase Subunit) and Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 9
Symptoms 15
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PSENEN

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

9 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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