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ORPHA:2512

Autosomal recessive primary microcephaly

low confidenceSubtype of disorder

Also known as: MCPH · Microcephalia vera · Microcephaly vera · True microcephaly

Publications

8,293

Trials

0

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

ASPM, CDK5RAP2, CENPE

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

microcephalia vera · microcephaly vera · microcephaly, primary autosomal recessive · microcephaly, primary, autosomal recessive

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ASPM, CDK5RAP2, CENPE, KIF14, STIL…

  2. LiteraturePresent

    8,293 matched papers (5,432 in last 10 years) Source

  3. Phenotype characterisedPresent

    437 HPO annotations (e.g. Global developmental delay; Growth delay; Short stature) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  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; 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?

Yes — we know a specific gene responsible (ASPM, CDK5RAP2, CENPE…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

437

Associated phenotypes · MONDO:0016660

  • Global developmental delay
  • Growth delay
  • Short stature
  • Unilateral renal agenesis
  • Agenesis of corpus callosum

Showing 5 of 437 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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?

8,293

8,293 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,293 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).

5,432 in the last 10 years · low confidence

Phrase hits: 700 · MeSH hits: 18

Open Europe PMC search

Who's working on it?

1,180

Distinct author names in 200 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
    Baig SM9 papers · 2024

    Shahid Mahmood Baig (PhD), Department of Biological and Biomedical Sciences, The Aga Khan University, 74000, Karachi, Pakistan. Pakistan Science Foundation, Constitution Avenue, 44000, Islamabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 38000, Faisalabad, Pakistan.

    Papers in Europe PMC
  2. 02
    Hussain MS9 papers · 2025

    Cologne Center for Genomics, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  3. 03
    Kaindl AM9 papers · 2023

    Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Nürnberg P7 papers · 2022

    Cologne Center for Genomics, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  5. 05
    Aslam K6 papers · 2024

    Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan.

    Papers in Europe PMC
  6. 06
    Zaqout S6 papers · 2023

    Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University, Doha, Qatar.

    Papers in Europe PMC
  7. 07
    Anjum I5 papers · 2024

    Department of Biotechnology, Kinnaird College University Lahore, Lahore, Pakistan.

    Papers in Europe PMC
  8. 08
    Asif M5 papers · 2025

    Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

    Papers in Europe PMC
  9. 09
    Kraemer N5 papers · 2023

    Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

    Papers in Europe PMC
  10. 10
    Makhdoom EUH5 papers · 2025

    Ehtisham ul Haq Makhdoom (MPhil), Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 38000, Faisalabad, Pakistan.

    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 9 September 2026 · last trial check 9 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.

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

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 2026-07-27

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 Autosomal recessive primary microcephaly — 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.

("Autosomal recessive primary microcephaly" OR "Microcephalia vera" OR "Microcephaly vera" OR "True microcephaly" OR "microcephaly, primary autosomal recessive" OR "microcephaly, primary, autosomal recessive") OR (MESH:"Autosomal Recessive Primary Microcephaly") OR ("ASPM" OR "ASPM syndrome" OR "ASPM-related" OR "CDK5RAP2" OR "CDK5RAP2 syndrome" OR "CDK5RAP2-related" OR "CENPE" OR "CENPE syndrome" OR "CENPE-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Autosomal Recessive Primary Microcephaly

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

"Autosomal recessive primary microcephaly" OR "Microcephalia vera" OR "Microcephaly vera" OR "True microcephaly" OR "microcephaly, primary autosomal recessive" OR "microcephaly, primary, autosomal recessive"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"microcephaly"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MCPH

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 (8293) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T01:55:43.473Z