ORPHA:87876
Sialidosis type 2
Also known as: Infantile dysmorphic sialidosis
Publications
1,539
Trials
0
Interventional, condition-specific
Researchers
1,212
Distinct authors in sample
Gene link
NEU1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like (coarse facies, dysostosis multiplex, ), macular cherry-red spots as well as psychomotor and . ST-2 displays a broad spectrum of clinical severity with antenatal/, and juvenile presentations.
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:0009738
- MeSH:C562606
- OMIM:256150
- OMIM:256550
- UMLS:C4282398
- NCIT:C125596
Additional Mondo synonyms (10)
NEU1 sialidosis · dysmorphic sialidosis · dysmorphic sialidosis with renal involvement · infantile dysmorphic sialidosis · mucolipidosis I · nephrosialidosis · sialidosis caused by mutation in NEU1 · sialidosis type II · sialidosis, type 2 · sialidosis, type I
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
Definitive — NEU1
- LiteraturePresent
1,539 matched papers (799 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 (NEU1).
GenCC classification: Definitive.
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?
1,539
1,539 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=5449) is 41.
1,539 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).
799 in the last 10 years · low confidence
Phrase hits: 1,539 · MeSH hits: 2
Who's working on it?
1,212
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.
- 01d'Azzo A10 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
Papers in Europe PMC - 02Pshezhetsky AV7 papers · 2025
Département de Pédiatrie, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Papers in Europe PMC - 03Campos Y6 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
Papers in Europe PMC - 04van de Vlekkert D6 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
Papers in Europe PMC - 05Annunziata I5 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
Papers in Europe PMC - 06Guerrini R5 papers · 2025
Children's Hospital A. Meyer-University of Florence, Florence, Italy.
Papers in Europe PMC - 07Caciotti A4 papers · 2025
Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
Papers in Europe PMC - 08Fremuth LE4 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Papers in Europe PMC - 09Gomero E4 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
Papers in Europe PMC - 10Hu H4 papers · 2024
Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
Broader category sialidosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: sialidosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06316752·RECRUITING·The Natural History of Sialidosis Type I
Conditions: Observational Study·Matched via name phrase
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.
"Sialidosis type 2" OR "Infantile dysmorphic sialidosis" OR "NEU1 sialidosis" OR "dysmorphic sialidosis" OR "dysmorphic sialidosis with renal involvement" OR "mucolipidosis I" OR "nephrosialidosis" OR "sialidosis caused by mutation in NEU1" OR "sialidosis type II" OR "sialidosis, type 2" OR "sialidosis, type I"
MeSH descriptor terms unioned into the query: Nephrosialidosis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sialidosis type 2" OR "Infantile dysmorphic sialidosis" OR "NEU1 sialidosis" OR "dysmorphic sialidosis" OR "dysmorphic sialidosis with renal involvement" OR "mucolipidosis I" OR "nephrosialidosis" OR "sialidosis caused by mutation in NEU1" OR "sialidosis type II" OR "sialidosis, type 2" OR "sialidosis, type I" OR "NEU1"
Recall-expansion terms: NEU1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sialidosis"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 (1539) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:21:22.776Z