ORPHA:435628
Keppen-Lubinsky syndrome
Also known as: Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
72
58.4th percentile
Trials
0
Interventional, condition-specific
Researchers
407
Distinct authors in sample
Gene link
KCNJ6, MYH6
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary lipodystrophy syndrome characterized by severe and , , hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.
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:0013572
- OMIM:614098
- UMLS:C3279800
Additional Mondo synonyms (2)
generalised lipodystrophy-progeroid features-severe intellectual disability syndrome · generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — KCNJ6, MYH6
- LiteraturePresent
72 matched papers (65 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (KCNJ6, MYH6).
GenCC classification: Strong.
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?
72
72 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.
72 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).
65 in the last 10 years · high confidence · 58.4th percentile (publications denominator)
Phrase hits: 72 · MeSH hits: 0
Who's working on it?
407
Distinct author names in 72 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.
- 01Slesinger PA5 papers · 2026
Fishberg Dept. of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. paul.slesinger@mssm.edu.
Papers in Europe PMC - 02Bates EA4 papers · 2024
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, United States.
Papers in Europe PMC - 03Glaaser IW4 papers · 2026
Fishberg Dept. of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. ian.glaaser@mssm.edu.
Papers in Europe PMC - 04Levin M4 papers · 2021
Allen Discovery Center at Tufts University, Medford, MA 02155, United States; Biology Department, Tufts University, Medford, MA 02155, United States. Electronic address: michael.levin@tufts.edu.
Papers in Europe PMC - 05Zhao Y4 papers · 2026
Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Papers in Europe PMC - 06Araújo-Vilar D3 papers · 2020
Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Avda. Barcelona 3, 15707, Santiago de Compostela, Spain. david.araujo@usc.es.
Papers in Europe PMC - 07de Groot BL3 papers · 2025
Computational Biomolecular Dynamics Group, Max Planck Institute for Multidisciplinary Sciences, Am Fassberg 11, Göttingen 37077, Germany.
Papers in Europe PMC - 08Garg A3 papers · 2018
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
Papers in Europe PMC - 09Marron Fernandez de Velasco E3 papers · 2024
Department of Pharmacology, University of Minnesota, Minneapolis, Minnesota.
Papers in Europe PMC - 10
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Keppen-Lubinsky syndrome" OR "Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" OR "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Keppen-Lubinsky syndrome" OR "Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" OR "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" OR "KCNJ6" OR "MYH6"
Recall-expansion terms: KCNJ6, MYH6
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T16:02:01.924Z