RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:166073

Pontocerebellar hypoplasia type 6

medium confidenceSubtype of disorder

Also known as: Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

Publications

92

59.5th percentile

Trials

1

Interventional, condition-specific

Researchers

900

Distinct authors in sample

Gene link

RARS2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with , clonus, , impaired swallowing and from infancy by microcephaly, spasticity and lactic .

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 (4)

RARS2 non-syndromic pontocerebellar hypoplasia · fatal infantile encephalopathy with mitochondrial respiratory chain defects · non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2 · pontocerebellar hypoplasia type 6

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.

  1. Gene identifiedPresent

    Definitive — RARS2

  2. LiteraturePresent

    92 matched papers (68 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (RARS2).

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?

92

92 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.

92 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).

68 in the last 10 years · medium confidence · 59.5th percentile (publications denominator)

Phrase hits: 92 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

900

Distinct author names in 92 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
    Kurian MA4 papers · 2018

    Department of Neurology, Great Ormond Street Hospital, London, UK; Neurosciences Unit, UCL-Institute of Child Health, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

    Papers in Europe PMC
  2. 02
    Meyer E4 papers · 2018

    Neurosciences Unit, UCL-Institute of Child Health, London, UK.

    Papers in Europe PMC
  3. 03
    Prabhakar P4 papers · 2018

    Department of Neurology, Great Ormond Street Hospital for Children, London, UK.

    Papers in Europe PMC
  4. 04
    Rahman S4 papers · 2018

    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK. S.Rahman@ich.ucl.ac.uk

    Papers in Europe PMC
  5. 05
    Bertini E3 papers · 2023

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Brown G3 papers · 2013
    Papers in Europe PMC
  7. 07
    Carr LJ3 papers · 2018

    Department of Neurology, Great Ormond Street Hospital, London, UK.

    Papers in Europe PMC
  8. 08
    Chen L3 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.

    Papers in Europe PMC
  9. 09
    Horvath R3 papers · 2018

    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.

    Papers in Europe PMC
  10. 10
    King MD3 papers · 2018

    Department of Paediatric Neurology, Children's University Hospital, Temple Street, Dublin, Ireland.

    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 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).

medium 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.

Broader category: pontocerebellar hypoplasia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. 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 2026-07-26

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 6" OR "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" OR "RARS2 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pontocerebellar Hypoplasia Type 6

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

"Pontocerebellar hypoplasia type 6" OR "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" OR "RARS2 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" OR "RARS2"

Recall-expansion terms: RARS2

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pontocerebellar hypoplasia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCH6

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

Ingested 2026-07-27T08:19:20.704Z