ORPHA:435628
Keppen-Lubinsky syndrome
Also known as: Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
Publications
8,385
Trials
0
Interventional, condition-specific
Researchers
407
Distinct authors in sample
Gene link
KCNJ6, MYH6
Strong
Readiness
3/6
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.”
3/6 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
8,385 matched papers (6,248 in last 10 years) Source
- Phenotype characterisedPresent
76 HPO annotations (e.g. Congenital generalized lipodystrophy; Intellectual disability; Mask-like facies) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
76
Associated phenotypes · MONDO:0013572
- Congenital generalized lipodystrophy
- Intellectual disability
- Mask-like facies
- Abnormality of eye movement
- Hypertonia
Showing 5 of 76 — 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?
8,385
8,385 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.
8,385 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).
6,248 in the last 10 years · low confidence
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Keppen-Lubinsky syndrome — check Associations / patient organisations on that page.
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") OR ("KCNJ6" OR "KCNJ6 syndrome" OR "KCNJ6-related" OR "MYH6" OR "MYH6 syndrome" OR "MYH6-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 (8385) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:02:01.924Z