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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

16,687

Trials

2

Interventional, condition-specific

Researchers

943

Distinct authors in sample

Gene link

LMNA

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — LMNA

  2. LiteraturePresent

    16,687 matched papers (11,715 in last 10 years) Source

  3. Phenotype characterisedPresent

    108 HPO annotations (e.g. Round face; Secondary amenorrhea; Thin skin) 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 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 (LMNA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

108

Associated phenotypes · MONDO:0007906

  • Round face
  • Secondary amenorrhea
  • Thin skin
  • Xanthomatosis
  • Splenomegaly

Showing 5 of 108 — 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?

16,687

16,687 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

16,687 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).

11,715 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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 10 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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: familial partial lipodystrophy

10

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Familial partial lipodystrophy, Dunnigan type — 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.

("Familial partial lipodystrophy, Dunnigan type" OR "Dunnigan syndrome" OR "FPLD2" OR "Familial partial lipodystrophy type 2") OR ("LMNA" OR "LMNA syndrome" OR "LMNA-related")

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"

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:

"familial partial lipodystrophy"

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
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (16687) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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