ORPHA:370022
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Also known as: Poretti-Boltshauser syndrome
Publications
91
63.5th percentile
Trials
1
Interventional, condition-specific
Researchers
707
Distinct authors in sample
Gene link
LAMA1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar , delayed motor and language development and , in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal and myopia). Cerebellar cysts, cerebellar and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
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:0014419
- OMIM:615960
- UMLS:C4014821
Additional Mondo synonyms (1)
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — LAMA1
- LiteraturePresent
91 matched papers (84 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 (LAMA1).
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?
91
91 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.
91 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).
84 in the last 10 years · high confidence · 63.5th percentile (publications denominator)
Phrase hits: 91 · MeSH hits: 0
Who's working on it?
707
Distinct author names in 91 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.
- 01Boltshauser E7 papers · 2023
Department of Pediatric Neurology (emeritus), Children's University Hospital, Zürich, Switzerland.
Papers in Europe PMC - 02Valente EM6 papers · 2023
Neurogenetics Lab, IRCCS Santa Lucia Foundation, Rome, Italy.
Papers in Europe PMC - 03Doherty D5 papers · 2022
Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA, ddoher@uw.edu r.oegema@erasmusmc.nl.
Papers in Europe PMC - 04
- 05Li Y4 papers · 2026
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Papers in Europe PMC - 06Poretti A4 papers · 2017
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland, USA.
Papers in Europe PMC - 07Wang L4 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 08Borgatti R3 papers · 2022
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 09Brockmann K3 papers · 2023
Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University of Goettingen, Goettingen, Germany.
Papers in Europe PMC - 10Elmas M3 papers · 2021
Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey.
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).
high 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.
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.
"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" OR "Poretti-Boltshauser syndrome" OR "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" OR "Poretti-Boltshauser syndrome" OR "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" OR "LAMA1"
Recall-expansion terms: LAMA1
Interventional trials matched via: recall-expansion (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.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T14:53:01.115Z