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ORPHA:2065

Galloway-Mowat syndrome

high confidenceDisorder

Also known as: Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome · Nephrosis-neuronal dysmigration syndrome

Publications

564

80.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,458

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global , microcephaly, and cerebral and cerebellar atrophy with extrapyramidal involvement, optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

microcephaly, hiatal hernia and nephrotic syndrome · microcephaly-hiatus hernia-nephrotic syndrome · nephrosis-microcephaly syndrome · nephrosis-neuronal dysmigration syndrome · spinocerebellar ataxia, autosomal recessive 5

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    564 matched papers (389 in last 10 years) Source

  3. Phenotype characterisedPresent

    334 HPO annotations (e.g. Ataxia; Spastic tetraplegia; Seizure) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

334

Associated phenotypes · MONDO:0009627

  • Ataxia
  • Spastic tetraplegia
  • Seizure
  • Renal insufficiency
  • Hypotonia

Showing 5 of 334 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

564

564 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.

564 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).

389 in the last 10 years · high confidence · 80.5th percentile (publications denominator)

Phrase hits: 564 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,458

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
    Zenker M7 papers · 2023

    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany martin.zenker@med.ovgu.de friedhelm.hildebrandt@childrens.harvard.edu.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2025

    School of Basic Medical Sciences, First Clinical School, School of Health Management, Guangzhou Medical University, Guangzhou, 511436, China.

    Papers in Europe PMC
  3. 03
    Hildebrandt F6 papers · 2024

    Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Zhang Y6 papers · 2026

    Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, 1838 Guangzhou Avenue North, Guangzhou, 510515, China.

    Papers in Europe PMC
  5. 05
    Braun DA5 papers · 2026

    Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  6. 06
    Li Z5 papers · 2024

    Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510080, China.

    Papers in Europe PMC
  7. 07
    Mollet G5 papers · 2026

    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.

    Papers in Europe PMC
  8. 08
    Zhang W5 papers · 2025

    School of Life Sciences, Key Laboratory of Cell Activities and Stress Adaptation of the Ministry of Education, Lanzhou University, Lanzhou 730000, China.

    Papers in Europe PMC
  9. 09
    Antignac C4 papers · 2026

    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address: corinne.antignac@inserm.fr.

    Papers in Europe PMC
  10. 10
    Arrondel C4 papers · 2026

    Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.

    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.

high 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 Galloway-Mowat 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.

"Galloway-Mowat syndrome" OR "Galloway syndrome" OR "Microcephaly-hiatus hernia-nephrotic syndrome" OR "Nephrosis-neuronal dysmigration syndrome" OR "microcephaly, hiatal hernia and nephrotic syndrome" OR "nephrosis-microcephaly syndrome" OR "spinocerebellar ataxia, autosomal recessive 5"

Run this search on Europe PMC

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

"Galloway-Mowat syndrome" OR "Galloway syndrome" OR "Microcephaly-hiatus hernia-nephrotic syndrome" OR "Nephrosis-neuronal dysmigration syndrome" OR "microcephaly, hiatal hernia and nephrotic syndrome" OR "nephrosis-microcephaly syndrome" OR "spinocerebellar ataxia, autosomal recessive 5"

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

Ingested 2026-07-26T18:59:28.255Z