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ORPHA:2348

Familial partial lipodystrophy, Dunnigan type

low confidenceDisorder

Also known as: Dunnigan syndrome · FPLD2 · Familial partial lipodystrophy type 2

Publications

1,199

Trials

7

Interventional, condition-specific

Researchers

943

Distinct authors in sample

Gene link

LMNA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

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 (1)

familial partial lipodystrophy type 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

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

  1. Gene identifiedPresent

    Definitive — LMNA

  2. LiteraturePresent

    1,199 matched papers (728 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 trialPresent

    7 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (LMNA).

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?

1,199

1,199 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.

1,199 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).

728 in the last 10 years · low confidence

Phrase hits: 1,199 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

943

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
    Akinci B17 papers · 2026

    Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

    Papers in Europe PMC
  2. 02
    Vigouroux C16 papers · 2026

    Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, INSERM UMR, Pierre-and-Marie Curie University, Université Paris, Sorbonne Universités, Paris, France.

    Papers in Europe PMC
  3. 03
    Oral EA14 papers · 2026

    Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI.

    Papers in Europe PMC
  4. 04
    Garg A13 papers · 2026

    UT Southwestern Medical Ctr , Dallas, TX,

    Papers in Europe PMC
  5. 05
    Vatier C11 papers · 2026

    Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Centre national de référence des pathologies rares de l'insulino-sécrétion et de l'insulino-sensibilité (PRISIS), hôpital Saint-Antoine, Assistance publique-Hôpitaux de Paris, Paris, France; INSERM UMRS_938, Centre de recherche Saint-Antoine, Institut hospitalo-universitaire de cardiométabolisme et nutrition (ICAN), Sorbonne université, Paris, France. Electronic address: Camille.vatier@aphp.fr.

    Papers in Europe PMC
  6. 06
    Foss-Freitas MC10 papers · 2025

    a Division of Endocrinology, Department of Internal Medicine , Medical School of Ribeirão Preto, University of São Paulo , São Paulo , BRAZIL.

    Papers in Europe PMC
  7. 07
    Vantyghem MC10 papers · 2026

    Department of Endocrinology, Diabetology, and Metabolism, University of Lille, CHU (Centre Hospitalier Universitaire) Lille, France (M.C.V.).

    Papers in Europe PMC
  8. 08
    Gilio D9 papers · 2026

    Obesity and Lipodystrophy Center, Endocrinology Unit, Pisa University Hospital, Pisa, Italy.

    Papers in Europe PMC
  9. 09
    Araújo-Vilar D8 papers · 2025

    UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago de Compostela, Spain.

    Papers in Europe PMC
  10. 10
    Brown RJ8 papers · 2026

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 9 trials are registered for familial partial lipodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: familial partial lipodystrophy

9

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

2 observational studies match 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

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via recall expansion

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.

"Familial partial lipodystrophy, Dunnigan type" OR "Dunnigan syndrome" OR "FPLD2" OR "Familial partial lipodystrophy type 2"

Run this search on Europe PMC

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

"Familial partial lipodystrophy, Dunnigan type" OR "Dunnigan syndrome" OR "FPLD2" OR "Familial partial lipodystrophy type 2" OR "LMNA"

Recall-expansion terms: LMNA

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

Study-type breakdown: 7 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"familial partial lipodystrophy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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
  • Publication count (1199) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:55:51.039Z