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ORPHA:284339

Pontocerebellar hypoplasia type 7

low confidenceSubtype of disorder

Also known as: PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Publications

875

Trials

0

Interventional, condition-specific

Researchers

837

Distinct authors in sample

Gene link

TOE1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown and poor prognosis reported in four patients and is characterized clinically during the period by , no palpable gonads, micropenis and from infancy by microcephaly, apneic episodes, poor feeding, and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

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 (3)

TOE1 non-syndromic pontocerebellar hypoplasia · non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1 · pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

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

    Strong — TOE1

  2. LiteraturePresent

    875 matched papers (653 in last 10 years) Source

  3. Phenotype characterisedPresent

    86 HPO annotations (e.g. Microcephaly; Micrognathia; Macrotia) 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 (TOE1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

86

Associated phenotypes · MONDO:0013993

  • Microcephaly
  • Micrognathia
  • Macrotia
  • Intellectual disability
  • Hypotonia

Showing 5 of 86 — 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?

875

875 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=3967) is 59.

875 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).

653 in the last 10 years · low confidence

Phrase hits: 94 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

837

Distinct author names in 94 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
    Li Y7 papers · 2025

    State Key Laboratory of Oncology in South China, Cancer Center, Collaborative Innovation Center for Cancer Medicine, MOE Key Laboratory of Gene Function and Regulation, School of Life Sciences, Sun Yat-sen University, Guangzhou 510006, China.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2025

    Department of Disease Control, Center for Disease Control and Prevention in Northern Theater Command, Shenyang, Liaoning, China.

    Papers in Europe PMC
  3. 03
    Chen H4 papers · 2023

    Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Chen Y4 papers · 2023

    State Key Laboratory of Oncology in South China, Cancer Center, Collaborative Innovation Center for Cancer Medicine, MOE Key Laboratory of Gene Function and Regulation, School of Life Sciences, Sun Yat-sen University, Guangzhou 510006, China.

    Papers in Europe PMC
  5. 05
    Liu J4 papers · 2024

    Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2024

    Shenzhen Key Laboratory of Nanozymes and Translational Cancer Research, Department of Otolaryngology, Shenzhen Institute of Translational Medicine, The First Affiliated Hospital of Shenzhen University, Shenzhen Second People's Hospital, Shenzhen, 518035, China.

    Papers in Europe PMC
  7. 07
    Baas F3 papers · 2021

    Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. F.Baas@lumc.nl.

    Papers in Europe PMC
  8. 08
    Deng T3 papers · 2024

    State Key Laboratory of Oncology in South China, Cancer Center, Collaborative Innovation Center for Cancer Medicine, MOE Key Laboratory of Gene Function and Regulation, School of Life Sciences, Sun Yat-sen University, Guangzhou 510006, China.

    Papers in Europe PMC
  9. 09
    Gleeson JG3 papers · 2024

    University of California San Diego, La Jolla, California, USA.

    Papers in Europe PMC
  10. 10
    Tian X3 papers · 2026

    State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Disease, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, 510180, China.

    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.

low 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 7 — 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 7" OR "Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" OR "Pontocerebellar hypoplasia-46,XY disorder of the sex development syndrome" OR "TOE1 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1") OR ("TOE1" OR "TOE1 syndrome" OR "TOE1-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 7" OR "Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" OR "Pontocerebellar hypoplasia-46,XY disorder of the sex development syndrome" OR "TOE1 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1"

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

Synonyms dropped by stoplist: PCH7

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 (875) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:03:21.165Z