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ORPHA:423461

Mucolipidosis type III alpha/beta

medium confidenceSubtype of disorder

Also known as: ML 3 alpha/beta · ML III alpha/beta · Mucolipidosis type 3 alpha/beta

Publications

1,139

85.4th percentile

Trials

0

Interventional, condition-specific

Researchers

958

Distinct authors in sample

Gene link

GNPTAB

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate and mild in most patients.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

MLIII · Pseudo Hurler Polydystrophy · mucolipidosis type 3 alpha/beta · mucolipidosis type III · pseudo-Hurler polydystrophy

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — GNPTAB

  2. LiteraturePresent

    1,139 matched papers (655 in last 10 years) Source

  3. Phenotype characterisedPresent

    126 HPO annotations (e.g. Oligosacchariduria; Gait disturbance; Abdominal wall muscle weakness) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 2 for broader category mucolipidosis

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)

126

Associated phenotypes · MONDO:0018931

  • Oligosacchariduria
  • Gait disturbance
  • Abdominal wall muscle weakness
  • Keratan sulfate excretion in urine
  • Generalized osteoporosis

Showing 5 of 126 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,139

1,139 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.

1,139 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).

655 in the last 10 years · medium confidence · 85.4th percentile (publications denominator)

Phrase hits: 420 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

958

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
    Kornfeld S14 papers · 2025

    Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.

    Papers in Europe PMC
  2. 02
    Pohl S11 papers · 2021

    Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany, s.pohl@uke.de.

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

    Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Velho RV9 papers · 2023

    Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama 110, 90040-060 Porto Alegre, Brazil.

    Papers in Europe PMC
  5. 05
    Ludwig NF8 papers · 2023

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

    Papers in Europe PMC
  6. 06
    Miller AL7 papers · 1993

    Department of Neurosciences, University of California, San Diego School of Medicine, La Jolla 92093.

    Papers in Europe PMC
  7. 07
    Schwartz IV6 papers · 2023

    Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama 110, 90040-060 Porto Alegre, Brazil, Laboratory of Basic Research and Advanced Investigations in Neurosciences, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos 2350, 90035-903 Porto Alegre, Brazil and.

    Papers in Europe PMC
  8. 08
    Sillence D6 papers · 2026

    The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

    Papers in Europe PMC
  9. 09
    Sperb-Ludwig F6 papers · 2023

    Laboratory of Basic Research and Advanced Investigations in Neurosciences, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos 2350, 90035-903 Porto Alegre, Brazil and.

    Papers in Europe PMC
  10. 10
    Ben-Yoseph Y5 papers · 1992

    Department of Pediatrics, Wayne State University, Detroit MI 48201.

    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). 2 trials 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 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.

medium 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.

2 interventional trials matched mucolipidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: mucolipidosis

2

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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 III alpha/beta — 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 III alpha/beta" OR "ML 3 alpha/beta" OR "ML III alpha/beta" OR "Mucolipidosis type 3 alpha/beta" OR "MLIII" OR "Pseudo Hurler Polydystrophy" OR "mucolipidosis type III" OR "pseudo-Hurler polydystrophy") 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 III alpha/beta" OR "ML 3 alpha/beta" OR "ML III alpha/beta" OR "Mucolipidosis type 3 alpha/beta" OR "MLIII" OR "Pseudo Hurler Polydystrophy" OR "mucolipidosis type III" OR "pseudo-Hurler polydystrophy"

Study-type breakdown: 0 interventional · 0 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
  • "mucolipidosis type III" also appears on ORPHA:577
  • "pseudo-Hurler polydystrophy" also appears on ORPHA:577

Ingested 2026-07-27T15:51:54.115Z