ORPHA:576
Mucolipidosis type II
Also known as: I-cell disease · Mucolipidosis type II alpha/beta · N-acetylglucosamine 1-phosphotransferase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,077
82.8th percentile
Trials
2
Interventional, condition-specific
Researchers
1,079
Distinct authors in sample
Gene link
GNPTAB
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009650
- MeSH:C538602
- OMIM:252500
- UMLS:C2673377
- NCIT:C61270
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — GNPTAB
- LiteraturePresent
1,077 matched papers (264 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 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)
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?
1,077
1,077 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.
1,077 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).
264 in the last 10 years · high confidence · 82.8th percentile (publications denominator)
Phrase hits: 1,077 · MeSH hits: 0
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.
- 01Pohl 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 - 02Alves 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 - 03Braulke 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 - 04Coutinho MF8 papers · 2026
Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.
Papers in Europe PMC - 05Ludwig 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 - 06Muschol NM6 papers · 2023
International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 07Sperb-Ludwig F6 papers · 2023
Department of Genetics, Federal University of Rio Grande do Sul, 90040-060 Porto Alegre, Brazil.
Papers in Europe PMC - 08Velho RV6 papers · 2023
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 09Ammer LS5 papers · 2023
International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 10Danyukova 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th 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
- NCT07398872·ENROLLING BY INVITATION·Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
Conditions: Mucolipidosis Type IV·Matched via name phrase
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.
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.
"Mucolipidosis type II" OR "I-cell disease" OR "Mucolipidosis type II alpha/beta" OR "N-acetylglucosamine 1-phosphotransferase deficiency" OR "I Cell Disease"
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" OR "GNPTAB"
Recall-expansion terms: GNPTAB
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: suspect — strategies attempted: phrase, recall-expansion; 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