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ORPHA:611247

Pontocerebellar hypoplasia type 11

medium confidenceSubtype of disorder

Also known as: PCH11 · Pontocerebellar hypoplasia due to TBC1D23

Publications

262

68.1th percentile

Trials

0

Interventional, condition-specific

Researchers

401

Distinct authors in sample

Gene link

TBC1D23

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of pontocerebellar hypoplasia characterized by microcephaly, severe global and , facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include , ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.

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 11

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TBC1D23

  2. LiteraturePresent

    262 matched papers (200 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Anal atresia; Inability to walk; Hypermetropia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (TBC1D23).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0054669

  • Anal atresia
  • Inability to walk
  • Hypermetropia
  • Seizure
  • Agenesis of corpus callosum

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

262

262 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.

262 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).

200 in the last 10 years · medium confidence · 68.1th percentile (publications denominator)

Phrase hits: 54 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

401

Distinct author names in 54 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
    Mert GG3 papers · 2024

    Departments of Pediatric Neurology, Cukurova University, Adana, Turkey.

    Papers in Europe PMC
  2. 02
    Bilge S2 papers · 2022

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

    Papers in Europe PMC
  3. 03
    Bozdoğan ST2 papers · 2022

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

    Papers in Europe PMC
  4. 04
    Cass LG2 papers · 1981
    Papers in Europe PMC
  5. 05
    Havalı C2 papers · 2022

    Department of Pediatric Neurology, Health Sciences University Bursa High Specialization Training and Research Hospital, Bursa, Turkey.

    Papers in Europe PMC
  6. 06
    Hergüner Ö2 papers · 2022

    Department of Pediatric Neurology, College of Medicine, Çukurova University, Adana, Turkey.

    Papers in Europe PMC
  7. 07
    Horwitz AH2 papers · 1981
    Papers in Europe PMC
  8. 08
    Kaya Ö2 papers · 2022

    Department of Radiology, College of Medicine, Çukurova University, Adana, Turkey.

    Papers in Europe PMC
  9. 09
    Li H2 papers · 2025

    The Central Laboratory for Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China.

    Papers in Europe PMC
  10. 10
    Mizobuchi K2 papers · 1990
    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 11 — 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 11" OR "PCH11" OR "Pontocerebellar hypoplasia due to TBC1D23" OR "pontocerebellar hypoplasia, type 11") OR ("TBC1D23" OR "TBC1D23 syndrome" OR "TBC1D23-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 11" OR "PCH11" OR "Pontocerebellar hypoplasia due to TBC1D23" OR "pontocerebellar hypoplasia, type 11"

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 (262) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T19:03:14.521Z