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ORPHA:423470

Mucolipidosis type III gamma

high confidenceSubtype of disorder

Also known as: ML 3 gamma · ML III gamma · Mucolipidosis type 3 gamma

Publications

483

77.8th percentile

Trials

0

Interventional, condition-specific

Researchers

304

Distinct authors in sample

Gene link

GNPTG

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

GNPTG-mucolipidosis · mucolipidosis type 3 gamma · mucolipidosis type III gamma

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 — GNPTG

  2. LiteraturePresent

    483 matched papers (332 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Coarse facial features; Claw hand deformity; Finger joint contracture) 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 (GNPTG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0009652

  • Coarse facial features
  • Claw hand deformity
  • Finger joint contracture
  • Hyperlordosis
  • Arthralgia

Showing 5 of 26 — 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?

483

483 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

483 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).

332 in the last 10 years · high confidence · 77.8th percentile (publications denominator)

Phrase hits: 55 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

304

Distinct author names in 55 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
    Alegra T5 papers · 2019

    Postgraduate Program in Genetics and Molecular Biology, UFRGS, Brazil.

    Papers in Europe PMC
  2. 02
    Pohl S5 papers · 2020

    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

    Papers in Europe PMC
  3. 03
    Sperb-Ludwig F5 papers · 2020

    BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Brazil.

    Papers in Europe PMC
  4. 04
    Velho RV5 papers · 2019

    Postgraduate Program in Genetics and Molecular Biology, UFRGS, Brazil.

    Papers in Europe PMC
  5. 05
    Schwartz IVD4 papers · 2020

    BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Brazil.

    Papers in Europe PMC
  6. 06
    Braulke T3 papers · 2018

    From the ‡Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; s.pohl@uke.de braulke@uke.de.

    Papers in Europe PMC
  7. 07
    Guarany NR3 papers · 2020

    Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  8. 08
    Kornfeld S3 papers · 2015

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

    Papers in Europe PMC
  9. 09
    Ludwig NF3 papers · 2020

    Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  10. 10
    Raas-Rothschild A3 papers · 2003

    Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel.

    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.

high 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 63 · after dedupe 63 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 63 · 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 (63)

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 gamma — 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 gamma" OR "ML 3 gamma" OR "ML III gamma" OR "Mucolipidosis type 3 gamma" OR "GNPTG-mucolipidosis") OR (MESH:"Mucolipidosis III Gamma") OR ("GNPTG" OR "GNPTG syndrome" OR "GNPTG-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Mucolipidosis III Gamma

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

"Mucolipidosis type III gamma" OR "ML 3 gamma" OR "ML III gamma" OR "Mucolipidosis type 3 gamma" OR "GNPTG-mucolipidosis" OR "Mucolipidosis III Gamma"

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, 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

Ingested 2026-07-27T15:52:06.364Z