Genopathy
Gene-Disorder Association · Article
Gene
SLC25A24
Solute Carrier Family 25 Member 24
Disorder
Fontaine Progeroid Syndrome
First reported 2011
Supporting publications 6
Key publication · gene–disorder Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2011
Key publication · disorder Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?The Journal of pediatrics · 1960
Manually curated
Association Review

In brief

The association between SLC25A24 (Solute Carrier Family 25 Member 24) and Fontaine Progeroid Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 11
Symptoms 192
Compounds 0
Trials 0
Publications 6
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

5 sources

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

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03
SLC25A24

The gene

1 source summary

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

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04
Fontaine Progeroid Syndrome

The disorder

18 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

122 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

11 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

6 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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