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ORPHA:55595

TNP03-related limb-girdle muscular dystrophy D2

high confidenceDisorder

Also known as: Autosomal dominant limb-girdle muscular dystrophy type 1F · LGMD type 1F · LGMD1F · Limb-girdle muscular dystrophy type 1F

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

71

51.2th percentile

Trials

0

Interventional, condition-specific

Researchers

399

Distinct authors in sample

Gene link

TNPO3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of limb-girdle muscular , with a variable age of onset, characterized by , proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

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 (1)

muscular dystrophy, limb-girdle, autosomal dominant 2

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — TNPO3

  2. LiteraturePresent

    71 matched papers (44 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 24 for broader category limb-girdle muscular dystrophy

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 (TNPO3).

GenCC classification: Strong.

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?

71

71 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=5449) is 41.

71 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).

44 in the last 10 years · high confidence · 51.2th percentile (publications denominator)

Phrase hits: 71 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

399

Distinct author names in 71 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
    Angelini C10 papers · 2024

    IRCCS San Camillo Hospital, Via Alberoni 70, 30126 Venice, Italy.

    Papers in Europe PMC
  2. 02
    Nigro V6 papers · 2018

    TIGEM (Telethon Institute of Genetics and Medicine), Napoli, Italy.

    Papers in Europe PMC
  3. 03
    Christ F4 papers · 2021

    Laboratory of Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Herestraat 49 bus 822, 3000 Leuven, Belgium.

    Papers in Europe PMC
  4. 04
    Debyser Z4 papers · 2021

    Laboratory of Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Herestraat 49 bus 822, 3000 Leuven, Belgium.

    Papers in Europe PMC
  5. 05
    Fanin M4 papers · 2015

    Department of Neurosciences, University of Padova, Padova, Italy.

    Papers in Europe PMC
  6. 06
    Peterle E4 papers · 2015

    Department of Neurosciences, University of Padova, Biomedical Campus "Pietro d'Abano", via Giuseppe Orus 2B, 35129 Padova, Italy.

    Papers in Europe PMC
  7. 07
    Artero R3 papers · 2026

    Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjasot, 46100 Valencia, Spain.

    Papers in Europe PMC
  8. 08
    Bargiela A3 papers · 2026

    Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), 46026 Valencia, Spain.

    Papers in Europe PMC
  9. 09
    Carraro U3 papers · 2023

    Department of Biomedical Sciences, University of Padua, Italy; CIR MYO - Interdepartmental Research Centre of Myology, University of Padua, Italy; Armando & Carmela Mioni-Carraro Foundation for Translational Myology, Padua. ugo.carraro@unipd.it.

    Papers in Europe PMC
  10. 10
    Cenacchi G3 papers · 2025

    Department of Biomedical and Neuromotor Sciences-DIBINEM, Alma Mater Studiorum University of Bologna, via Massarenti 9, 40138, Bologna, Italy. giovanna.cenacchi@unibo.it.

    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. 24 trials are registered for limb-girdle muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

24 interventional trials matched limb-girdle muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: limb-girdle muscular dystrophy

24

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"TNP03-related limb-girdle muscular dystrophy D2" OR "Autosomal dominant limb-girdle muscular dystrophy type 1F" OR "LGMD type 1F" OR "LGMD1F" OR "Limb-girdle muscular dystrophy type 1F" OR "muscular dystrophy, limb-girdle, autosomal dominant 2"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Limb-Girdle, Type 1F

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

"TNP03-related limb-girdle muscular dystrophy D2" OR "Autosomal dominant limb-girdle muscular dystrophy type 1F" OR "LGMD type 1F" OR "LGMD1F" OR "Limb-girdle muscular dystrophy type 1F" OR "muscular dystrophy, limb-girdle, autosomal dominant 2" OR "Muscular Dystrophy, Limb-Girdle, Type 1F" OR "TNPO3" OR "muscular dystrophy, limb-girdle, autosomal dominant"

Recall-expansion terms: TNPO3, muscular dystrophy, limb-girdle, autosomal dominant

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

Parent-category trials query:

"limb-girdle muscular dystrophy"

Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T00:57:32.496Z