ORPHA:500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Also known as: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
213
74.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,461
Distinct authors in sample
Gene link
TRAPPC12
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic neurological disorder characterized by early-onset severe global with regression, or acquired microcephaly, hearing loss, truncal , appendicular spasticity, and dystonia and/or myoclonus.
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:0044696
- OMIM:617669
- UMLS:C5567229
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
Strong — TRAPPC12
- LiteraturePresent
213 matched papers (151 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?
Yes — we know a specific gene responsible (TRAPPC12).
GenCC classification: Strong.
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?
213
213 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.
213 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).
151 in the last 10 years · medium confidence · 74.1th percentile (publications denominator)
Phrase hits: 213 · MeSH hits: 0
Who's working on it?
1,461
Distinct author names in 200 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.
- 01Salas-Gismondi R10 papers · 2025
Departamento de Paleontología de Vertebrados, Museo de Historia Natural-Universidad Nacional Mayor San Marcos (UNMSM, DPV-MUSM), Lima, Peru.
Papers in Europe PMC - 02Antoine PO9 papers · 2025
Laboratoire de Paléontologie, Institut des Sciences de l'Evolution de Montpellier (ISEM, UMR 5554, CNRS/UM/IRD/EPHE), Université de Montpellier, Montpellier, France.
Papers in Europe PMC - 03Balslev H8 papers · 2025
Department of Bioscience, Ecoinformatics and Biodiversity Group Aarhus University Aarhus Denmark.
Papers in Europe PMC - 04Dexter KG7 papers · 2025
School of Geosciences, University of Edinburgh Edinburgh, UK.
Papers in Europe PMC - 05Fouquet A6 papers · 2025
Laboratoire Ecologie, Evolution et Interactions des Systèmes Amazoniens, Centre de recherche de Montabo, Cayenne, French Guiana.
Papers in Europe PMC - 06Phillips OL6 papers · 2025
School of Geography, University of Leeds Leeds, LS2 9JT, UK.
Papers in Europe PMC - 07
- 08Albert JS5 papers · 2025
Department of Biology University of Louisiana at Lafayette Lafayette Louisiana USA.
Papers in Europe PMC - 09Alonso A5 papers · 2025
Center for Conservation and Sustainability, Smithsonian Conservation Biology Institute, Washington, DC, USA.
Papers in Europe PMC - 10Cerón C5 papers · 2025
Escuela de Biología Herbario Alfredo Paredes, Universidad Central, Quito, Ecuador.
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.
"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" OR "Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome" OR "PEBAS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" OR "Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome" OR "PEBAS" OR "TRAPPC12" OR "Mendelian encephalopathy"
Recall-expansion terms: TRAPPC12, Mendelian encephalopathy
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (213) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T17:41:25.689Z