ORPHA:79084
Familial partial lipodystrophy, Köbberling type
Also known as: FPLD1 · Familial partial lipodystrophy type 1
Publications
100
63.9th percentile
Trials
0
Interventional, condition-specific
Researchers
581
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be .
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012072
- OMIM:608600
- UMLS:C1720859
Additional Mondo synonyms (1)
familial partial lipodystrophy type 1
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
100 matched papers (86 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
100
100 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.
100 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).
86 in the last 10 years · high confidence · 63.9th percentile (publications denominator)
Phrase hits: 100 · MeSH hits: 0
Who's working on it?
581
Distinct author names in 100 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.
- 01Araújo-Vilar D7 papers · 2025
a UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS , University of Santiago de Compostela , Spain.
Papers in Europe PMC - 02Oral EA7 papers · 2025
Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology and Diabetes, University of Michigan, 1000 Wall Street, 48105, Ann Arbor, MI, USA.
Papers in Europe PMC - 03Brown RJ6 papers · 2025
Diabetes, Endocrinology, and Obesity Branch NIDDK, NIH Bethesda MD USA.
Papers in Europe PMC - 04Sánchez-Iglesias S6 papers · 2024
a UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS , University of Santiago de Compostela , Spain.
Papers in Europe PMC - 05Savage DB6 papers · 2026
University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, UK
Papers in Europe PMC - 06Garg A5 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 - 07Valerio CM5 papers · 2025
Metabolism Unit, Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro and Catholic University, Rio de Janeiro, Brazil. dracynthiavalerio@gmail.com.
Papers in Europe PMC - 08Vatier C5 papers · 2025
Inserm UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Sorbonne Universités, UPMC Univ Paris 6, Paris, France.
Papers in Europe PMC - 09Vigouroux C5 papers · 2025
Department of Molecular Biology and Genetics, Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
Papers in Europe PMC - 10Adams C4 papers · 2017
University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, UK
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 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.
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
- NCT06679270·RECRUITING·Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
Conditions: Familial Partial Lipodystrophy·Matched via name phrase
- NCT07412028·NOT YET RECRUITING·Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
Conditions: Polycystic Ovary Syndrome · Familial Partial Lipodystrophy · LMNA (LaMin Nuclear A) Related Disorders·Matched via name phrase
- NCT03900286·RECRUITING·Low Energy Diet and Familial Partial Lipodystrophy
Conditions: Lipodystrophy · Diabetes · Diet Modification·Matched via name phrase
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 2026-07-26This 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, Köbberling type" OR "FPLD1" OR "Familial partial lipodystrophy type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial partial lipodystrophy, Köbberling type" OR "FPLD1" OR "Familial partial lipodystrophy type 1"
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
Ingested 2026-07-27T01:54:49.169Z