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Fontaine Progeroid Syndrome

Fontaine Progeroid Syndrome fallback research

⚠️ Fallback MONDO:0012853

Fontaine Progeroid Syndrome fallback research

Scope

This fallback artifact supports the initial direct-Orpha curation of Fontaine_Progeroid_Syndrome while provider-based deep research is attempted with bounded timeouts. The entry focuses on the MONDO:0012853 / SLC25A24 Fontaine progeroid syndrome root and its Orphanet historical subtype records: ORPHA:697101, ORPHA:2963, and ORPHA:2095.

Structured sources

  • ORPHA:697101: disease-level Fontaine progeroid syndrome record with exact OMIM:612289 mapping.
  • ORPHA:2963: Progeroid syndrome, Petty type; includes exact MONDO:0012853, autosomal dominant inheritance, SLC25A24 gene association, epidemiology, and HPO phenotype-frequency rows.
  • ORPHA:2095: Gorlin-Chaudhry-Moss syndrome; includes historical GCM synonyms, SLC25A24 gene association, epidemiology, and HPO phenotype-frequency rows.

Primary literature used

  • PMID:35679445 GeneReviews, "SLC25A24 Fontaine Progeroid Syndrome." Used for the current clinical definition, molecular diagnosis, autosomal dominant usually de novo inheritance, management, surveillance, and recurrence-risk counseling.
  • PMID:29100093 Ehmke et al. 2017, AJHG. Used for recurrent de novo SLC25A24 variants, mitochondrial inner membrane ATP-Mg/Pi carrier function, patient-fibroblast mitochondrial swelling, low matrix ATP, oxidative-stress sensitivity, gain-of-pathological-function interpretation, and linkage to skeletal/connective-tissue development.
  • PMID:29100094 Writzl et al. 2017, AJHG. Used for the Fontaine syndrome name, recurrent codon 217 SLC25A24 variants, ATP-Mg/phosphate exchange, substrate cavity and transporter-dynamics modeling, altered mitochondrial morphology, decreased proliferation, increased membrane potential, decreased ATP-linked oxygen consumption, and impaired mitochondrial ATP synthesis.
  • PMID:31775791 Ryu et al. 2019. Used for integration of GCMS and Fontaine-Farriaux syndrome under Fontaine progeroid syndrome and long-term clinical follow-up.
  • PMID:38980211 Pannier et al. 2024. Used for prenatal diagnosis, fetal phenotype extension, exome/genome diagnostic utility, and paternal SLC25A24 mosaicism.
  • PMID:36093452 Lally et al. 2022. Used for early-lethality summary.
  • PMID:41271664 Riko et al. 2025. Used for neonatal mitochondrial disease and decreased mitochondrial respiratory chain enzyme activity.
  • PMID:23686885 Rosti et al. 2013. Background historical GCM phenotype review; not required for the primary mechanism graph because Orphanet and SLC25A24 molecular evidence cover the structured claims.

Literature-scope notes

PubMed searches were run for "Fontaine progeroid syndrome", "Gorlin-Chaudhry-Moss syndrome", "Petty Laxova Wiedemann syndrome", and "SLC25A24 progeroid". The priority curation evidence was selected from GeneReviews, the two 2017 AJHG molecular discovery papers, Orphanet structured records, and later case reports that add prenatal, long-term follow-up, lethality, mosaicism, or mitochondrial-disease information.

Provider attempts

  • 2026-05-07: timeout 75s just research-disorder falcon Fontaine_Progeroid_Syndrome timed out with signal 15 before producing an artifact.
  • 2026-05-07: timeout 75s just research-disorder openai Fontaine_Progeroid_Syndrome timed out with signal 15 before producing an artifact.

Because both bounded provider attempts failed to return promptly, this curation proceeds from the PubMed, GeneReviews, and Orphanet evidence above.