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ORPHA:3166

Sialuria

medium confidenceDisorder

Also known as: Sialuria, French type

Publications

245

59.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,111

Distinct authors in sample

Gene link

GNE

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and . Growth and development are rather normal, however some affected individuals were reported to have moderate , slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient , and sleep apnea. Signs and symptoms can be transient, especially in infancy.

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 (2)

sialuria · sialuria, French type

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

    Strong — GNE

  2. LiteraturePresent

    245 matched papers (117 in last 10 years) Source

  3. Phenotype characterisedPresent

    71 HPO annotations (e.g. Coarse facial features; Smooth philtrum; Growth abnormality) Source

  4. Animal modelPresent

    1 genotype model (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 (GNE).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

71

Associated phenotypes · MONDO:0010028

  • Coarse facial features
  • Smooth philtrum
  • Growth abnormality
  • Prominent forehead
  • Hypertelorism

Showing 5 of 71 — 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?

245

245 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=3967) is 59.

245 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).

117 in the last 10 years · medium confidence · 59.2th percentile (publications denominator)

Phrase hits: 207 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,111

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
    Huizing M14 papers · 2025

    Cell Biology of Metabolic Disorders Unit, National Human Genome Research Institute, National institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Gahl WA13 papers · 2025

    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Hinderlich S9 papers · 2023

    Berliner Hochschule für Technik, Department Life Sciences & Technology Seestrasse 64 13347 Berlin Germany.

    Papers in Europe PMC
  4. 04
    Horstkorte R8 papers · 2024

    Institute for Physiological Chemistry, Medical Faculty, Martin-Luther-University Halle-Wittenberg, 06114 Halle, Germany.

    Papers in Europe PMC
  5. 05
    Montreuil J7 papers · 1983
    Papers in Europe PMC
  6. 06
    Reutter W7 papers · 2012
    Papers in Europe PMC
  7. 07
    Strecker G7 papers · 1985
    Papers in Europe PMC
  8. 08
    Lefeber DJ6 papers · 2026

    Laboratory of Pediatrics & Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. d.lefeber@cukz.umcn.nl

    Papers in Europe PMC
  9. 09
    Seppala R6 papers · 2001

    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

    Papers in Europe PMC
  10. 10
    Wevers RA6 papers · 2018

    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.

    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.

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

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 Sialuria — 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.

("Sialuria" OR "Sialuria, French type") OR ("GNE syndrome" OR "GNE-related")

Run this search on Europe PMC

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

"Sialuria" OR "Sialuria, French type"

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

Ingested 2026-07-26T22:22:22.850Z