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ORPHA:2836

PEHO syndrome

medium confidenceDisorder

Also known as: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Publications

429

76.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,016

Distinct authors in sample

Gene link

ZNHIT3

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — ZNHIT3

  2. LiteraturePresent

    429 matched papers (305 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Hypsarrhythmia; Tented upper lip vermilion; Profound intellectual disability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

73

Associated phenotypes · MONDO:0009841

  • Hypsarrhythmia
  • Tented upper lip vermilion
  • Profound intellectual disability
  • Short nose
  • Severe muscular hypotonia

Showing 5 of 73 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

429

429 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=3967) is 59.

429 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

305 in the last 10 years · medium confidence · 76.2th percentile (publications denominator)

Phrase hits: 139 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Somer M9 papers · 2017

    Department of Medical Genetics, Väestöliitto, Finnish Population and Family Welfare Federation, Helsinki.

    Papers in Europe PMC
  2. 02
    Lehesjoki AE5 papers · 2024

    The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290 Helsinki, Finland.

    Papers in Europe PMC
  3. 03
    Riikonen R5 papers · 2017

    Department of Pediatrics University of Eastern Finland and Kuopio University Hospital Kuopio Finland.

    Papers in Europe PMC
  4. 04
    Anttonen AK4 papers · 2020

    The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290 Helsinki, Finland.

    Papers in Europe PMC
  5. 05
    Chung WK4 papers · 2024

    Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. wkc15@columbia.edu.

    Papers in Europe PMC
  6. 06
    Kato M4 papers · 2025

    Department of Pediatrics, Showa University School of Medicine, Hatanodai, Shinagawa-ku, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Lupski JR4 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

    Papers in Europe PMC
  8. 08
    Barth 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
  9. 09
    Dobyns WB3 papers · 2017

    Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.

    Papers in Europe PMC
  10. 10
    Falsaperla 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for PEHO syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("ZNHIT3" OR "ZNHIT3 syndrome" OR "ZNHIT3-related" OR "PEHO" OR "PEHO-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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