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ORPHA:435660

LIPE-related familial partial lipodystrophy

low confidenceDisorder

Also known as: FPLD6 · LIPE-related FPLD

Publications

12,053

Trials

0

Interventional, condition-specific

Researchers

193

Distinct authors in sample

Gene link

LIPE

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are adult onset , insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.

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.

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 — LIPE

  2. LiteraturePresent

    12,053 matched papers (7,642 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Increased adipose tissue around the neck; Insulin resistance; Loss of subcutaneous adipose tissue in limbs) 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 (LIPE).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0014431

  • Increased adipose tissue around the neck
  • Insulin resistance
  • Loss of subcutaneous adipose tissue in limbs
  • Polycystic ovaries
  • Elevated circulating creatine kinase activity

Showing 5 of 40 — 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?

12,053

12,053 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.

12,053 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).

7,642 in the last 10 years · low confidence

Phrase hits: 38 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

193

Distinct author names in 38 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
    Garg A4 papers · 2025

    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address: abhimanyu.garg@utsouthwestern.edu.

    Papers in Europe PMC
  2. 02
    Araújo-Vilar D3 papers · 2024

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

    Papers in Europe PMC
  3. 03
    Gilio D3 papers · 2026

    Metabolism, Endocrinology and Diabetes (MEND) Division, Internal Medicine Department, University of Michigan, 2800 Plymouth Road Building 25, Room 3696, Ann Arbor, MI, 48105, USA.

    Papers in Europe PMC
  4. 04
    Patni N3 papers · 2025

    Division of Pediatric Endocrinology, Department of Pediatrics, and Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  5. 05
    Sánchez-Iglesias S3 papers · 2024

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

    Papers in Europe PMC
  6. 06
    Araujo-Vilar D2 papers · 2023

    CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS Santiago de Compostela, Spain.

    Papers in Europe PMC
  7. 07
    Bhattacharya S2 papers · 2025

    Department of Endocrinology, Indraprastha Apollo Hospitals, Delhi 110076, India.

    Papers in Europe PMC
  8. 08
    Bismuth E2 papers · 2025

    Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Pediatric Endocrinology Department, National Competence Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France.

    Papers in Europe PMC
  9. 09
    Brown RJ2 papers · 2025

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10-CRC, Room 6-5942, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address: brownrebecca@mail.nih.gov.

    Papers in Europe PMC
  10. 10
    Castro AI2 papers · 2024

    Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.

    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 LIPE-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.

("LIPE-related familial partial lipodystrophy" OR "FPLD6" OR "LIPE-related FPLD") OR ("LIPE" OR "LIPE syndrome" OR "LIPE-related")

Run this search on Europe PMC

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

"LIPE-related familial partial lipodystrophy" OR "FPLD6" OR "LIPE-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 (12053) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:02:53.438Z