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ORPHA:613274

Pontocerebellar hypoplasia type 14

medium confidenceSubtype of disorder

Also known as: PCH14

Publications

371

71.8th percentile

Trials

0

Interventional, condition-specific

Researchers

85

Distinct authors in sample

Gene link

PPIL1

Strong

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — PPIL1

  2. LiteraturePresent

    371 matched papers (247 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Bilateral tonic-clonic seizure; Infantile spasms; Focal-onset seizure) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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)

22

Associated phenotypes · MONDO:0030258

  • Bilateral tonic-clonic seizure
  • Infantile spasms
  • Focal-onset seizure
  • Absent speech
  • Dystonia

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

371

371 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.

371 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).

247 in the last 10 years · medium confidence · 71.8th percentile (publications denominator)

Phrase hits: 15 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    He 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
  2. 02
    Abrams ES1 paper · 1995

    Department of Biology, MIT, Cambridge 02139, USA.

    Papers in Europe PMC
  3. 03
    Bagheri S1 paper · 2024

    Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  4. 04
    Barot HA1 paper · 1986
    Papers in Europe PMC
  5. 05
    Bilge S1 paper · 2022

    Department of Pediatric Neurology, College of Medicine, Çukurova University, Adana, Turkey. sarabsmustafa@hotmail.com.

    Papers in Europe PMC
  6. 06
    Bozdoğan ST1 paper · 2022

    Department of Medical Genetics, College of Medicine, Çukurova University, Adana, Turkey.

    Papers in Europe PMC
  7. 07
    Braun V1 paper · 1996

    Mikrobiologie II, Universität Tübingen, Germany. Vbraun@uni-tuebingen.de

    Papers in Europe PMC
  8. 08
    Charris 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
  9. 09
    Clemons WM Jr1 paper · 2005
    Papers in Europe PMC
  10. 10
    Cullen ME1 paper · 1986
    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). 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 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.

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.

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 2026-07-30

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 Pontocerebellar hypoplasia type 14 — 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.

("Pontocerebellar hypoplasia type 14" OR "PCH14" OR "pontocerebellar hypoplasia, type 14") OR ("PPIL1" OR "PPIL1 syndrome" OR "PPIL1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (371) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T19:03:40.870Z