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ORPHA:3057

Monoamine oxidase A deficiency

low confidenceDisorder

Also known as: Brunner syndrome

Publications

11,573

Trials

0

Interventional, condition-specific

Researchers

751

Distinct authors in sample

Gene link

MAOA

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Monoamine oxidase-A deficiency is a very rare X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

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 (3)

Brunner syndrome, X-linked recessive · antisocial behavior, X-linked recessive · monoamine oxidase A deficiency

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 — MAOA

  2. LiteraturePresent

    11,573 matched papers (6,445 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Atypical behavior; Cognitive impairment; Motor delay) Source

  4. Animal modelPresent

    2 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 (MAOA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0010379

  • Atypical behavior
  • Cognitive impairment
  • Motor delay
  • Aggressive behavior
  • Kinetic tremor

Showing 5 of 13 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

11,573

11,573 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.

11,573 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).

6,445 in the last 10 years · low confidence

Phrase hits: 138 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

751

Distinct author names in 138 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
    Shih JC16 papers · 2025

    Dept. of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA; Dept. of Cell and Neurobiology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA. Electronic address: jcshih@usc.edu.

    Papers in Europe PMC
  2. 02
    Bortolato M15 papers · 2022

    Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, CA 90089, USA.

    Papers in Europe PMC
  3. 03
    Chen K11 papers · 2025

    Dept. of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA.

    Papers in Europe PMC
  4. 04
    Godar SC8 papers · 2016

    Dept. of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA.

    Papers in Europe PMC
  5. 05
    Stare J5 papers · 2026

    Laboratory for Computational Biochemistry and Drug Design, National Institute of Chemistry, Ljubljana 1001, Slovenia.

    Papers in Europe PMC
  6. 06
    Cortès-Saladelafont E4 papers · 2021

    Department of Child Neurology, Neurometabolic Unit, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Franke B4 papers · 2022

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.

    Papers in Europe PMC
  8. 08
    Friedman J4 papers · 2021

    Department of Neurosciences, University of California San Diego, Division of Neurology Rady Children's Hospital, Rady Children's Institute Genomic Medicine, San Diego, USA.

    Papers in Europe PMC
  9. 09
    Jeltsch K4 papers · 2021

    Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.

    Papers in Europe PMC
  10. 10
    Opladen T4 papers · 2021

    Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.

    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.

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Monoamine oxidase A deficiency — 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.

("Monoamine oxidase A deficiency" OR "Brunner syndrome" OR "Brunner syndrome, X-linked recessive" OR "antisocial behavior, X-linked recessive") OR ("MAOA" OR "MAOA syndrome" OR "MAOA-related")

Run this search on Europe PMC

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

"Monoamine oxidase A deficiency" OR "Brunner syndrome" OR "Brunner syndrome, X-linked recessive" OR "antisocial behavior, X-linked recessive"

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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (11573) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:07:03.475Z