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ORPHA:2510

Micro syndrome

low confidenceDisorder

Also known as: WARBM · Warburg micro syndrome

Publications

3,491

Trials

0

Interventional, condition-specific

Researchers

1,630

Distinct authors in sample

Gene link

RAB18, RAB3GAP1, RAB3GAP2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodevelopmental disorder characterized by severe , spasticity, postnatal microcephaly, and ocular abnormalities, including cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations.

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 (1)

micro 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — RAB18, RAB3GAP1, RAB3GAP2

  2. LiteraturePresent

    3,491 matched papers (2,206 in last 10 years) Source

  3. Phenotype characterisedPresent

    200 HPO annotations (e.g. Posteriorly rotated ears; Microcephaly; Anteverted nares) Source

  4. Animal modelPresent

    4 genotype models (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 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 (RAB18, RAB3GAP1, RAB3GAP2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

200

Associated phenotypes · MONDO:0016649

  • Posteriorly rotated ears
  • Microcephaly
  • Anteverted nares
  • Global developmental delay
  • Aplasia/Hypoplasia of the corpus callosum

Showing 5 of 200 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

3,491

3,491 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,491 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).

2,206 in the last 10 years · low confidence

Phrase hits: 321 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,630

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
    Handley MT11 papers · 2023

    MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.

    Papers in Europe PMC
  2. 02
    Aligianis IA10 papers · 2023

    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom.

    Papers in Europe PMC
  3. 03
    Morris-Rosendahl DJ5 papers · 2015

    Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany. deborah.morris-rosendahl@uniklinik-freiburg.de

    Papers in Europe PMC
  4. 04
    Wang X5 papers · 2025

    Lineberger Comprehensive Cancer Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

    Papers in Europe PMC
  5. 05
    Brown S4 papers · 2019

    MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

    Papers in Europe PMC
  6. 06
    Carpanini SM4 papers · 2015

    Division of Neurobiology, The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK.

    Papers in Europe PMC
  7. 07
    Jackson IJ4 papers · 2015

    MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.

    Papers in Europe PMC
  8. 08
    Kamath A4 papers · 2023

    Medical School, University of Oxford, John Radcliffe Hospital Oxford United Kingdom.

    Papers in Europe PMC
  9. 09
    Maher ER4 papers · 2013
    Papers in Europe PMC
  10. 10
    Sheridan E4 papers · 2023

    Leeds Institute of Medical Research St James’s University Hospital Leeds LS9 7TF United Kingdom

    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 11 September 2026 · last trial check 11 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 26 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (26)

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 Micro syndrome — 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.

("Micro syndrome" OR "WARBM" OR "Warburg micro syndrome") OR ("RAB18" OR "RAB18 syndrome" OR "RAB18-related" OR "RAB3GAP1" OR "RAB3GAP1 syndrome" OR "RAB3GAP1-related" OR "RAB3GAP2" OR "RAB3GAP2 syndrome" OR "RAB3GAP2-related")

Run this search on Europe PMC

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

"Micro syndrome" OR "WARBM" OR "Warburg micro syndrome"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3491) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:24:10.929Z