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ORPHA:98523

Pontocerebellar hypoplasia

low confidenceDisorder

Also known as: PCH · Pontoneocerebellar atrophy · Pontoneocerebellar hypoplasia

Publications

7,432

Trials

1

Interventional, condition-specific

Researchers

1,534

Distinct authors in sample

Gene link

ATOH1, HEATR5B, MINPP1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare group of neurodegenerative disorders with a onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.

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)

pontocerebellar hypoplasia · pontoneocerebellar atrophy · pontoneocerebllar hypoplasia

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATOH1, HEATR5B, MINPP1

  2. LiteraturePresent

    7,432 matched papers (5,098 in last 10 years) Source

  3. Phenotype characterisedPresent

    892 HPO annotations (e.g. Spasticity; Polyhydramnios; Arthrogryposis multiplex congenita) Source

  4. Animal modelPresent

    12 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. vatiquinone Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (ATOH1, HEATR5B, MINPP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

892

Associated phenotypes · MONDO:0020135

  • Spasticity
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Central apnea
  • Olivopontocerebellar hypoplasia

Showing 5 of 892 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA vatiquinonePontocerebellar Hypoplasia · 2017-10-18 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

7,432

7,432 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,432 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).

5,098 in the last 10 years · low confidence

Phrase hits: 1,644 · MeSH hits: 36

Open Europe PMC search

Who's working on it?

1,534

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Mayer S9 papers · 2026

    Karlsruhe Institute of Technology, Zoological Institute, 76131 Karlsruhe, Germany.

    Papers in Europe PMC
  2. 02
    Groeschel S8 papers · 2026

    Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076, Tübingen, Germany. Electronic address: samuel.groeschel@med.uni-tuebingen.de.

    Papers in Europe PMC
  3. 03
    Abdel-Hamid MS6 papers · 2026

    Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

    Papers in Europe PMC
  4. 04
    Hackenberg M6 papers · 2026

    Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Germany.

    Papers in Europe PMC
  5. 05
    Herrmann A6 papers · 2026

    Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  6. 06
    Janzarik WG6 papers · 2026

    Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  7. 07
    Krägeloh-Mann I6 papers · 2026

    Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076, Tübingen, Germany. Electronic address: ingeborg.kraegeloh-mann@med.uni-tuebingen.de.

    Papers in Europe PMC
  8. 08
    Kuhn A6 papers · 2026

    Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  9. 09
    Matilainen J6 papers · 2026

    German PCH Patient Network (PCH-Familie e.V.), Germany.

    Papers in Europe PMC
  10. 10
    Zaki MS6 papers · 2026

    Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 — 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" OR "Pontoneocerebellar atrophy" OR "Pontoneocerebellar hypoplasia" OR "pontoneocerebllar hypoplasia") OR (MESH:"Pontocerebellar Hypoplasia") OR ("ATOH1" OR "ATOH1 syndrome" OR "ATOH1-related" OR "HEATR5B" OR "HEATR5B syndrome" OR "HEATR5B-related" OR "MINPP1" OR "MINPP1 syndrome" OR "MINPP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pontocerebellar Hypoplasia

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Pontocerebellar hypoplasia" OR "Pontoneocerebellar atrophy" OR "Pontoneocerebellar hypoplasia" OR "pontoneocerebllar hypoplasia"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7432) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:18:38.935Z