ORPHA:2836
PEHO syndrome
Also known as: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
139
61.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,016
Distinct authors in sample
Gene link
ZNHIT3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare early childhood onset characterized by extreme cerebellar atrophy, -onset , spasms with hypsarrhythmia, profound , and optic atrophy. PEHO stands for the main features of the syndrome: with Edema, Hypsarrhythmia and Optic atrophy.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009841
- MeSH:C536317
- OMIM:260565
- UMLS:C1850055
Additional Mondo synonyms (3)
peho syndrome · progressive encephalopathy with edema, hypsarrhythmia and optic atrophy · progressive encephalopathy-optic atrophy 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
Strong — ZNHIT3
- LiteraturePresent
139 matched papers (76 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 (ZNHIT3).
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?
139
139 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.
139 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).
76 in the last 10 years · medium confidence · 61.7th percentile (publications denominator)
Phrase hits: 139 · MeSH hits: 0
Who's working on it?
1,016
Distinct author names in 139 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.
- 01Somer M9 papers · 2017
Department of Medical Genetics, Väestöliitto, Finnish Population and Family Welfare Federation, Helsinki.
Papers in Europe PMC - 02Lehesjoki AE5 papers · 2024
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290 Helsinki, Finland.
Papers in Europe PMC - 03Riikonen R5 papers · 2017
Department of Pediatrics University of Eastern Finland and Kuopio University Hospital Kuopio Finland.
Papers in Europe PMC - 04Anttonen AK4 papers · 2020
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290 Helsinki, Finland.
Papers in Europe PMC - 05Chung WK4 papers · 2024
Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. wkc15@columbia.edu.
Papers in Europe PMC - 06Kato M4 papers · 2025
Department of Pediatrics, Showa University School of Medicine, Hatanodai, Shinagawa-ku, Tokyo, Japan.
Papers in Europe PMC - 07Lupski JR4 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Papers in Europe PMC - 08Barth PG3 papers · 2011
Department of Neuropathology, Academic Medical Centre, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands. p.g.barth@amc.uva.nl
Papers in Europe PMC - 09Dobyns WB3 papers · 2017
Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.
Papers in Europe PMC - 10Falsaperla R3 papers · 2023
Unit of Pediatrics and Neonatal Intensive Therapy, Department of Promotion of Maternal and Infantile and Internal Medicine Health, and Specialist Excellence "G. D'Alessandro", University of Palermo, Palermo, Italy.
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.
"PEHO syndrome" OR "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" OR "progressive encephalopathy-optic atrophy syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PEHO syndrome" OR "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" OR "progressive encephalopathy-optic atrophy syndrome" OR "ZNHIT3"
Recall-expansion terms: ZNHIT3
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:23:59.317Z