ORPHA:280576
Nestor-Guillermo progeria syndrome
Also known as: NGPS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
123
65.8th percentile
Trials
0
Interventional, condition-specific
Researchers
708
Distinct authors in sample
Gene link
BANF1
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013523
- OMIM:614008
- UMLS:C3151446
Additional Mondo synonyms (1)
BANF1-related neurodevelopmental syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Moderate — BANF1
- LiteraturePresent
123 matched papers (97 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Probably — there is moderate evidence for BANF1.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
123
123 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
123 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
97 in the last 10 years · medium confidence · 65.8th percentile (publications denominator)
Phrase hits: 123 · MeSH hits: 0
Who's working on it?
708
Distinct author names in 123 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01López-Otín C9 papers · 2024
Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA) Universidad de Oviedo, Oviedo, Spain clo@uniovi.es.
Papers in Europe PMC - 02Larrieu D8 papers · 2025
Department of Pharmacology, University of Cambridge, Tennis Ct Rd, Cambridge, CB2 1PD, UK.
Papers in Europe PMC - 03Araújo-Vilar D6 papers · 2024
UETeM-Molecular Pathology Group, Institute of Biomedical Research (CIMUS), School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain. david.araujo@usc.es.
Papers in Europe PMC - 04Askjaer P6 papers · 2025
a Andalusian Center for Developmental Biology (CABD) , CSIC/Junta de Andalucia/Universidad Pablo de Olavide , Seville , Spain.
Papers in Europe PMC - 05Riedel CG5 papers · 2025
1Integrated Cardio Metabolic Centre (ICMC), Department of Medicine, Karolinska Institutet, Huddinge, Stockholm, Sweden; 2Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Stockholm, Sweden; 3European Research Institute for the Biology of Ageing (ERIBA), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 06Romero-Bueno R5 papers · 2025
Andalusian Center for Developmental Biology (CABD), Consejo Superior de Investigaciones Científicas/Junta de Andalucia/Universidad Pablo de Olavide, 41013 Seville, Spain.
Papers in Europe PMC - 07Zinn-Justin S5 papers · 2023
Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette Cedex, France.
Papers in Europe PMC - 08Bolderson E4 papers · 2021
Cancer & Ageing Research Program, Institute of Health and Biomedical Innovation at the Translational Research Institute (TRI), Queensland University of Technology (QUT), Brisbane, Queensland, Australia. emma.bolderson@qut.edu.au.
Papers in Europe PMC - 09De Sandre-Giovannoli A4 papers · 2020
Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.
Papers in Europe PMC - 10Fragoso-Luna A4 papers · 2025
Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas-Universidad Pablo de Olavide-Junta de Andalucía, 41013 Seville, Spain
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Nestor-Guillermo progeria syndrome" OR "BANF1-related neurodevelopmental syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nestor-Guillermo progeria syndrome" OR "BANF1-related neurodevelopmental syndrome" OR "BANF1"
Recall-expansion terms: BANF1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NGPS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:54:44.483Z