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ORPHA:79083

PPARG-related familial partial lipodystrophy

low confidenceDisorder

Also known as: FPLD3 · Familial partial lipodystrophy type 3 · PPARG-related FPLD

Publications

23,902

Trials

0

Interventional, condition-specific

Researchers

1,036

Distinct authors in sample

Gene link

PPARG

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.

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)

familial partial lipodystrophy type 3

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 — PPARG

  2. LiteraturePresent

    23,902 matched papers (18,762 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Hypertension; Insulin resistance; 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 trialPartial

    None under the specific name; 10 for broader category familial partial lipodystrophy

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 (PPARG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0011448

  • Hypertension
  • Insulin resistance
  • Thin skin
  • Atherosclerosis
  • Hepatic steatosis

Showing 5 of 55 — 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?

23,902

23,902 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.

23,902 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).

18,762 in the last 10 years · low confidence

Phrase hits: 193 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,036

Distinct author names in 193 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
    Kalkhoven E14 papers · 2026

    Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

    Papers in Europe PMC
  2. 02
    Hegele RA13 papers · 2025

    Blackburn Cardiovascular Genetics Laboratory, Robarts Research, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8. hegele@robarts.ca

    Papers in Europe PMC
  3. 03
    Vigouroux C11 papers · 2025

    National Institute of Diabetes and Digestive and Kidney Diseases (R.J.B., K.I.R.), National Institutes of Health, Bethesda, Maryland 20892; Department of Medicine (D.A.-V.), University of Santiago de Compostela, 15782 Santiago de Compostela, Spain; Department of Paediatrics and Adolescent Medicine (P.T.C.), The University of Hong Kong, Hong Kong Special Administrative Region, China; Department of Paediatrics (D.D.), University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Metabolic Research Laboratories Wellcome Trust (D.D.), Medical Research Council (MRC) Institute of Metabolic Science, National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre, MRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Division of Nutrition and Metabolic Diseases (A.G.), Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas 75390; Royal North Shore Hospital (M.J.), Northern Clinical School, University of Sydney, St Leonards, NSW 2126, Australia; Department of Paediatrics and Child Health (L.M.), University of Nairobi, 00100 Nairobi, Kenya; Brehm Center for Diabetes and Division of Metabolism, Endocrinology, and Diabetes (E.A.O.), Department of Internal Medicine, University of Michigan Medical School and Health Systems, Ann Arbor, Michigan 48109; Division of Pediatric Endocrinology (N.P.), Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390; Division of Pediatric Endocrinology and Diabetes (J.v.S., M.W.), Department of Pediatrics and Adolescent Medicine, University of Ulm, 89075 Ulm, Germany; Clamp Technologies Laboratory (E.S.), Endocrinology Research Center, and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov, Moscow State University, Moscow 119991, Russia; Pediatric Endocrine Unit and Program in Nutritional Metabolism (T.S.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02115; Sorbonne Universities (C.V.), l'université Pierre et Marie Curie, University of Paris VI, Inserm Unité Mixte de Recherche en Santé 938, St-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, St-Antoine Hospital, Molecular Biology and Genetics Department, 75012 Paris, France; Department of Paediatric Endocrinology (R.W.), Cambridge University Hospitals NHS Trust, Cambridge CB2 0QQ, United Kingdom; and Division of Pediatric Endocrinology and Metabolism (T.Y.), Children's Medical Center, Osaka City General Hospital, Osaka City 534-0021, Japan.

    Papers in Europe PMC
  4. 04
    Brown RJ10 papers · 2026

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, United States.

    Papers in Europe PMC
  5. 05
    Oral EA10 papers · 2026

    Metabolism, Endocrinology and Diabetes (MEND) Division, Department of Internal of Medicine, Brehm Center for Diabetes, Ann Arbor, United States.

    Papers in Europe PMC
  6. 06
    Garg A9 papers · 2025

    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-8537, USA. abhimanyu.garg@utsouthwestern.edu

    Papers in Europe PMC
  7. 07
    Savage DB9 papers · 2026

    The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.

    Papers in Europe PMC
  8. 08
    Vatier C7 papers · 2025

    Sorbonne University, Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France.

    Papers in Europe PMC
  9. 09
    Broekema MF6 papers · 2022

    Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

    Papers in Europe PMC
  10. 10
    Cao H6 papers · 2020

    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St, London, ON, N6A 5B7, Canada.

    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). 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 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.

low 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.

10 interventional trials matched familial partial lipodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

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

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

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 PPARG-related familial partial lipodystrophy — 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.

("PPARG-related familial partial lipodystrophy" OR "FPLD3" OR "Familial partial lipodystrophy type 3" OR "PPARG-related FPLD") OR ("PPARG" OR "PPARG syndrome" OR "PPARG-related")

Run this search on Europe PMC

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

"PPARG-related familial partial lipodystrophy" OR "FPLD3" OR "Familial partial lipodystrophy type 3" OR "PPARG-related FPLD"

Study-type breakdown: 0 interventional · 0 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 (23902) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:54:41.051Z