ORPHA:99807
PEHO-like syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
31
34.8th percentile
Trials
0
Interventional, condition-specific
Researchers
264
Distinct authors in sample
Gene link
CCDC88A
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
PEHO-like syndrome is a rare, genetic neurological disease characterized by , early-onset with a hypsarrhythmic pattern, facial and limb edema, severe , early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
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:0020495
- OMIM:617507
- UMLS:C1850056
Additional Mondo synonyms (3)
PEHO syndrome-like · peho-like syndrome · progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like 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 — CCDC88A
- LiteraturePresent
31 matched papers (17 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 (CCDC88A).
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?
31
31 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.
31 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).
17 in the last 10 years · high confidence · 34.8th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
264
Distinct author names in 31 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.
- 01Brady AF2 papers · 2018
North West Thames Regional Genetics Service, Level 8V, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK cw347@cam.ac.uk angela.brady@nhs.net mtakaha@med.nagoya-u.ac.jp.
Papers in Europe PMC - 02Kato M2 papers · 2016
Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8555, Japan.
Papers in Europe PMC - 03Lesca G2 papers · 2023
Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, member of the European Reference Network EpiCARE, Lyon, France.
Papers in Europe PMC - 04Mefford HC2 papers · 2023
Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Papers in Europe PMC - 05Muir AM2 papers · 2023
Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Papers in Europe PMC - 06Nahorski MS2 papers · 2018
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
Papers in Europe PMC - 07Woods CG2 papers · 2018
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK cw347@cam.ac.uk angela.brady@nhs.net mtakaha@med.nagoya-u.ac.jp.
Papers in Europe PMC - 08Abdel Ghafar SF1 paper · 2024
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 09Abdel-Hamid MS1 paper · 2024
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 10Abdulkareem AA1 paper · 2019
Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia.
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.
high 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-like syndrome" OR "PEHO syndrome-like" OR "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PEHO-like syndrome" OR "PEHO syndrome-like" OR "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" OR "CCDC88A"
Recall-expansion terms: CCDC88A
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
Ingested 2026-07-27T06:18:59.449Z