Genopathy
Gene-Disorder Association · Article
Gene
PSEN1
Presenilin 1
Disorder
Frontotemporal Dementia 1
First reported 2000
Supporting publications 208
Key publication · gene–disorder Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.Neurology · 2000
Key publication · disorder Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann).Virchows Archiv. A, Pathological anatomy and histology · 1975
Manually curated
Association Review

In brief

The association between PSEN1 (Presenilin 1) and Frontotemporal Dementia 1 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 237
Symptoms 29
Compounds 0
Trials 0
Publications 208
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
PSEN1

The gene

2 source summaries

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

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04
Frontotemporal Dementia 1

The disorder

11 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

17 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

237 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

208 publications

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

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09
Provenance

References & sources

14 references

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

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