ORPHA:2514
Autosomal dominant primary microcephaly
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
107
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
758
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, non-syndromic, developmental defect during embryogenesis syndrome characterized by a , non-, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate , as well as early psychomotor delay, may or may not be associated.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007988
- MeSH:C537323
- OMIM:156580
- UMLS:C0220693
Additional Mondo synonyms (2)
autosomal dominant primary microcephaly · microcephaly (disease), autosomal dominant
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
107 matched papers (40 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 trialPartial
None under the specific name; 5 for broader category microcephaly
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
107
107 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.
107 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 107 · MeSH hits: 0
Who's working on it?
758
Distinct author names in 107 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.
- 01Ottman R10 papers · 2012
G. H. Sergievsky Center and Department of Epidemiology, Columbia University, New York, NY, USA. ro6@columbia.edu
Papers in Europe PMC - 02
- 03Nobile C7 papers · 2017
Section of Padua, Institute of Neurosciences, Consiglio Nazionale delle Ricerche, Padova, Italy.
Papers in Europe PMC - 04Fukata M6 papers · 2025
Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan. mfukata@nips.ac.jp.
Papers in Europe PMC - 05Fukata Y6 papers · 2025
Department of Cell Physiology, National Institutes of Natural Sciences, Okazaki 444-8787, Japan.
Papers in Europe PMC - 06Michelucci R6 papers · 2017
Department of Neurological Sciences, University of Bologna, Bellaria Hospital, Italy. epicap@iperbole.bologna.it
Papers in Europe PMC - 07Hauser WA5 papers · 2010Papers in Europe PMC
- 08Pedley TA5 papers · 2010Papers in Europe PMC
- 09Scheffer IE5 papers · 2011Papers in Europe PMC
- 10Striano P5 papers · 2017
Muscular and Neurodegenerative Disease Unit, Institute "G. Gaslini," University of Genova, Italy.
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). 5 trials are registered for microcephaly, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
5 interventional trials matched microcephaly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: microcephaly
5
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.
Recruiting under the broader category
- NCT05518188·RECRUITING·Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
Conditions: Spasticity, Muscle · Microcephaly · Intellectual Deficiency · Growth Retardation·Matched via name phrase
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.
"Autosomal dominant primary microcephaly" OR "microcephaly (disease), autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant primary microcephaly" OR "microcephaly (disease), autosomal dominant" OR "autosomal genetic disease"
Recall-expansion terms: autosomal genetic disease
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"microcephaly"
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 2026-07-26T20:24:56.868Z