ORPHA:3166
Sialuria
Also known as: Sialuria, French type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
207
64.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,111
Distinct authors in sample
Gene link
GNE
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010028
- OMIM:269921
- UMLS:C0342853
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GNE
- LiteraturePresent
207 matched papers (87 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
207
207 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=5449) is 41.
207 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
87 in the last 10 years · medium confidence · 64.1th percentile (publications denominator)
Phrase hits: 207 · MeSH hits: 0
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.
- 01Huizing 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 - 02Gahl WA13 papers · 2025
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Papers in Europe PMC - 03Hinderlich S9 papers · 2023
Berliner Hochschule für Technik, Department Life Sciences & Technology Seestrasse 64 13347 Berlin Germany.
Papers in Europe PMC - 04Horstkorte R8 papers · 2024
Institute for Physiological Chemistry, Medical Faculty, Martin-Luther-University Halle-Wittenberg, 06114 Halle, Germany.
Papers in Europe PMC - 05Montreuil J7 papers · 1983Papers in Europe PMC
- 06Reutter W7 papers · 2012Papers in Europe PMC
- 07Strecker G7 papers · 1985Papers in Europe PMC
- 08Lefeber 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 - 09Seppala 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 - 10Wevers 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sialuria" OR "Sialuria, French type" OR "GNE"
Recall-expansion terms: GNE
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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