RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:576

Mucolipidosis type II

high confidenceDisorder

Also known as: I-cell disease · Mucolipidosis type II alpha/beta · N-acetylglucosamine 1-phosphotransferase deficiency

Publications

1,707

86th percentile

Trials

2

Interventional, condition-specific

Researchers

1,079

Distinct authors in sample

Gene link

GNPTAB

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global .

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 (3)

I Cell Disease · mucolipidosis type II · mucolipidosis type II alpha/beta

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GNPTAB

  2. LiteraturePresent

    1,707 matched papers (717 in last 10 years) Source

  3. Phenotype characterisedPresent

    155 HPO annotations (e.g. Poor head control; Hypoplastic scapulae; Trigonocephaly) Source

  4. Animal modelPresent

    9 genotype models (Mus musculus, 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 trialPresent

    2 matched on ClinicalTrials.gov

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 (GNPTAB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

155

Associated phenotypes · MONDO:0009650

  • Poor head control
  • Hypoplastic scapulae
  • Trigonocephaly
  • Premature anterior fontanel closure
  • Hoarse voice

Showing 5 of 155 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

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

8

Drugs / clinical candidates · MONDO_0009650

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,707

1,707 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.

1,707 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).

717 in the last 10 years · high confidence · 86th percentile (publications denominator)

Phrase hits: 1,077 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,079

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Pohl S15 papers · 2026

    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany s.pohl@uke.de t.danyukova@uke.de.

    Papers in Europe PMC
  2. 02
    Alves S9 papers · 2026

    Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.

    Papers in Europe PMC
  3. 03
    Braulke T9 papers · 2021

    From the ‡Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; braulke@uke.de mdamme@biochem.uni-kiel.de.

    Papers in Europe PMC
  4. 04
    Coutinho MF8 papers · 2026

    Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.

    Papers in Europe PMC
  5. 05
    Ludwig NF6 papers · 2023

    Post-Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil.

    Papers in Europe PMC
  6. 06
    Muschol NM6 papers · 2023

    International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  7. 07
    Sperb-Ludwig F6 papers · 2023

    Department of Genetics, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil.

    Papers in Europe PMC
  8. 08
    Velho RV6 papers · 2023

    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  9. 09
    Ammer LS5 papers · 2023

    International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  10. 10
    Danyukova T5 papers · 2021

    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany s.pohl@uke.de t.danyukova@uke.de.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for mucolipidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: mucolipidosis

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

None of the matched observational studies is currently listed as 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 2026-07-29

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 Mucolipidosis type II — 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.

("Mucolipidosis type II" OR "I-cell disease" OR "Mucolipidosis type II alpha/beta" OR "N-acetylglucosamine 1-phosphotransferase deficiency" OR "I Cell Disease") OR ("GNPTAB" OR "GNPTAB syndrome" OR "GNPTAB-related")

Run this search on Europe PMC

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

"Mucolipidosis type II" OR "I-cell disease" OR "Mucolipidosis type II alpha/beta" OR "N-acetylglucosamine 1-phosphotransferase deficiency" OR "I Cell Disease"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucolipidosis"

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 2026-07-26T14:25:10.025Z