ORPHA:613274
Pontocerebellar hypoplasia type 14
Also known as: PCH14
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
15
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
85
Distinct authors in sample
Gene link
PPIL1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of pontocerebellar hypoplasia characterized by severe, microcephaly and severe global apparent from birth, severe with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present , spastic tetraplegia, and early-onset . Chronic anemia and thrombocytopenia have also been reported.
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:0030258
- OMIM:619301
- UMLS:C5543322
Additional Mondo synonyms (1)
pontocerebellar hypoplasia, type 14
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — PPIL1
- LiteraturePresent
15 matched papers (5 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 trialPartial
None under the specific name; 1 for broader category pontocerebellar hypoplasia
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 (PPIL1).
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?
15
15 papers have ever been indexed 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.
15 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
85
Distinct author names in 15 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.
- 01He C2 papers · 2024
Zhejiang Provincial Key Laboratory of Biometrology and Inspection and Quarantine, College of Life Sciences, China Jiliang University, Hangzhou, 310018, China.
Papers in Europe PMC - 02
- 03Bagheri S1 paper · 2024
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 04Barot HA1 paper · 1986Papers in Europe PMC
- 05Bilge S1 paper · 2022
Department of Pediatric Neurology, College of Medicine, Çukurova University, Adana, Turkey. sarabsmustafa@hotmail.com.
Papers in Europe PMC - 06Bozdoğan ST1 paper · 2022
Department of Medical Genetics, College of Medicine, Çukurova University, Adana, Turkey.
Papers in Europe PMC - 07Braun V1 paper · 1996
Mikrobiologie II, Universität Tübingen, Germany. Vbraun@uni-tuebingen.de
Papers in Europe PMC - 08Charris Castro L1 paper · 2016
Hospital Universitario Virgen del Rocío. Sevilla. Hospitales Universitarios Virgen del Rocío Hospital Universitario Virgen del Rocío Sevilla
Papers in Europe PMC - 09Clemons WM Jr1 paper · 2005Papers in Europe PMC
- 10Cullen ME1 paper · 1986Papers 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). 1 trial are registered for pontocerebellar hypoplasia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched pontocerebellar hypoplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: pontocerebellar hypoplasia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Pontocerebellar hypoplasia type 14" OR "PCH14" OR "pontocerebellar hypoplasia, type 14"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pontocerebellar hypoplasia type 14" OR "PCH14" OR "pontocerebellar hypoplasia, type 14" OR "PPIL1"
Recall-expansion terms: PPIL1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"pontocerebellar hypoplasia"
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 2026-07-27T19:03:40.870Z