ORPHA:613267
Pontocerebellar hypoplasia type 13
Also known as: PCH13
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
30
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
183
Distinct authors in sample
Gene link
VPS51, VPS53
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of pontocerebellar hypoplasia characterized by onset of severe global with absent speech, , feeding problems, craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker . , nystagmus, and cortical visual impairment have been reported in some cases.
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:0032831
- OMIM:618606
- UMLS:C5231425
Additional Mondo synonyms (1)
PONTOCEREBELLAR HYPOPLASIA, TYPE 13
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 — VPS51, VPS53
- LiteraturePresent
30 matched papers (18 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 (VPS51, VPS53).
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?
30
30 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.
30 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).
18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
183
Distinct author names in 30 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.
- 01Calendar R2 papers · 1990Papers in Europe PMC
- 02Galej WP2 papers · 2014
MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, United Kingdom. Electronic address: wgalej@mrc-lmb.cam.ac.uk.
Papers in Europe PMC - 03Nagai K2 papers · 2014
MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, United Kingdom. Electronic address: kn@mrc-lmb.cam.ac.uk.
Papers in Europe PMC - 04Newman AJ2 papers · 2014
MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, United Kingdom.
Papers in Europe PMC - 05Nguyen TH2 papers · 2014
MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, UK.
Papers in Europe PMC - 06Stanković D2 papers · 2024
Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany.
Papers in Europe PMC - 07Uhlirova M2 papers · 2024
Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany mirka.uhlirova@uni-koeln.de.
Papers in Europe PMC - 08Akiyama Y1 paper · 2000Papers in Europe PMC
- 09Alonso-Carriazo Fernandez A1 paper · 2026
Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.
Papers in Europe PMC - 10Amberg DC1 paper · 1995Papers 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 13" OR "PCH13" OR "PONTOCEREBELLAR HYPOPLASIA, TYPE 13"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pontocerebellar hypoplasia type 13" OR "PCH13" OR "PONTOCEREBELLAR HYPOPLASIA, TYPE 13" OR "VPS51" OR "VPS53"
Recall-expansion terms: VPS51, VPS53
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 2026-07-27T19:03:31.924Z