ORPHA:98523

Pontocerebellar hypoplasia

low confidenceDisorder

Also known as: PCH · Pontoneocerebellar atrophy · Pontoneocerebellar hypoplasia

Publications

1,644

Trials

Interventional, condition-specific

Researchers

1,534

Distinct authors in sample

Gene link

ATOH1, HEATR5B, MINPP1

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

Gene identifiedPresent
Definitive — ATOH1, HEATR5B, MINPP1
LiteraturePresent
1,644 matched papers (1,208 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 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)

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?

1,644

1,644 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,644 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).

1,208 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.

01
Mayer S9 papers · 2026
Karlsruhe Institute of Technology, Zoological Institute, 76131 Karlsruhe, Germany.
Papers in Europe PMC
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
03
Abdel-Hamid MS6 papers · 2026
Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Papers in Europe PMC
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
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
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
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
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
09
Matilainen J6 papers · 2026
German PCH Patient Network (PCH-Familie e.V.), Germany.
Papers in Europe PMC
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?

interventional trials for this specific condition

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

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th 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

NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name + MeSH

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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"

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" OR "ATOH1" OR "HEATR5B" OR "MINPP1"

Recall-expansion terms: ATOH1, HEATR5B, MINPP1

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, recall-expansion; 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 (1644) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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