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ORPHA:87876

Sialidosis type 2

low confidenceDisorder

Also known as: Infantile dysmorphic sialidosis

Publications

3,917

Trials

0

Interventional, condition-specific

Researchers

1,212

Distinct authors in sample

Gene link

NEU1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

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 — NEU1

  2. LiteraturePresent

    3,917 matched papers (2,471 in last 10 years) Source

  3. Phenotype characterisedPresent

    144 HPO annotations (e.g. Coarse facial features; Seizure; Cherry red spot of the macula) 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 (NEU1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

144

Associated phenotypes · MONDO:0009738

  • Coarse facial features
  • Seizure
  • Cherry red spot of the macula
  • Low-set ears
  • Visual loss

Showing 5 of 144 — 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?

3,917

3,917 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.

3,917 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).

2,471 in the last 10 years · low confidence

Phrase hits: 1,539 · MeSH hits: 2

Open Europe PMC search

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.

  1. 01
    d'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
  2. 02
    Pshezhetsky AV7 papers · 2025

    Département de Pédiatrie, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.

    Papers in Europe PMC
  3. 03
    Campos Y6 papers · 2024

    Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.

    Papers in Europe PMC
  4. 04
    van 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
  5. 05
    Annunziata I5 papers · 2024

    Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.

    Papers in Europe PMC
  6. 06
    Guerrini R5 papers · 2025

    Children's Hospital A. Meyer-University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Caciotti A4 papers · 2025

    Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.

    Papers in Europe PMC
  8. 08
    Fremuth LE4 papers · 2024

    Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

    Papers in Europe PMC
  9. 09
    Gomero E4 papers · 2024

    Department of Genetics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA.

    Papers in Europe PMC
  10. 10
    Hu 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 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.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-30

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 Sialidosis type 2 — 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.

("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 (MESH:"Nephrosialidosis") OR ("NEU1" OR "NEU1 syndrome" OR "NEU1-related")

Run this search on Europe PMC

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"

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; 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 (3917) 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