ORPHA:163976
X-linked intellectual disability, Van Esch type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
19
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
131
Distinct authors in sample
Gene link
POLA1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic characterized by , mild to moderate , low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorphism include upslanted palpebral fissures and prominent nasal bridge.
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:0015601
- OMIM:301030
- UMLS:C4305072
Additional Mondo synonyms (4)
VEODS · Van Esch-O'Driscoll syndrome · Van Esch-O'Driscoll syndrome, X-linked recessive · mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — POLA1
- LiteraturePresent
19 matched papers (12 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (POLA1).
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?
19
19 papers have ever been indexed 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.
19 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 19 · MeSH hits: 0
Who's working on it?
131
Distinct author names in 19 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.
- 01AMIT Michal4 papers · 2007Papers in Europe PMC
- 02ITSKOVITZ-ELDOR Joseph4 papers · 2007Papers in Europe PMC
- 03Abeling NG1 paper · 2011Papers in Europe PMC
- 04Adams DR1 paper · 2024
National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 05Ahuja M1 paper · 2026
Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
Papers in Europe PMC - 06Allworth A1 paper · 2024
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Papers in Europe PMC - 07Ars E1 paper · 2022
Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08025 Catalonia, Spain.
Papers in Europe PMC - 08Aston KI1 paper · 2022
Andrology and IVF Laboratories, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Papers in Europe PMC - 09Axente M1 paper · 2021
"Dr. Nicolae Robanescu" National Clinical Center for Children's Neurorecovery, Bucharest, Romania.
Papers in Europe PMC - 10Azorín F1 paper · 2022
Institute of Molecular Biology of Barcelona, CSIC, Baldiri Reixac, 4, Barcelona, 08028 Catalonia, Spain; Institute for Research in Biomedicine, IRB Barcelona, The Barcelona Institute for Science and Technology, Baldiri Reixac, 10, Barcelona, 08028 Catalonia, Spain.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"X-linked intellectual disability, Van Esch type" OR "VEODS" OR "Van Esch-O'Driscoll syndrome" OR "Van Esch-O'Driscoll syndrome, X-linked recessive" OR "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability, Van Esch type" OR "VEODS" OR "Van Esch-O'Driscoll syndrome" OR "Van Esch-O'Driscoll syndrome, X-linked recessive" OR "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" OR "POLA1"
Recall-expansion terms: POLA1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T08:15:43.059Z