ORPHA:228429
Congenital generalized lipodystrophy type 4
Also known as: BSCL type 4 · Berardinelli-Seip syndrome type 4, BSCL type 4 · GCL4
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
52
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
410
Distinct authors in sample
Gene link
CAVIN1
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013225
- MeSH:C567642
- OMIM:613327
- UMLS:C2750069
Additional Mondo synonyms (6)
BSCL4 · CAVIN1 congenital generalised lipodystrophy (disease) · CAVIN1 congenital generalized lipodystrophy (disease) · CGL4 · congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1 · congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1
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 — CAVIN1
- LiteraturePresent
52 matched papers (38 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 (CAVIN1).
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?
52
52 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.
52 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).
38 in the last 10 years · medium confidence · 48.5th percentile (publications denominator)
Phrase hits: 52 · MeSH hits: 0
Who's working on it?
410
Distinct author names in 52 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.
- 01Garg A5 papers · 2024
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8537, USA.
Papers in Europe PMC - 02Akinci B4 papers · 2024
Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
Papers in Europe PMC - 03Akinci G3 papers · 2024
Division of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. Electronic address: akinci.gulcin@gmail.com.
Papers in Europe PMC - 04Li X3 papers · 2025
State Key Laboratory of Swine and Poultry Breeding Industry, College of Animal Science and Technology, Sichuan Agricultural University, Chengdu, 611130, China. xuewei.li@sicau.edu.cn.
Papers in Europe PMC - 05Magré J3 papers · 2022
Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, L'institut du Thorax, Université de Nantes, F-44000 Nantes, France.
Papers in Europe PMC - 06Patni N3 papers · 2024
Division of Paediatric Endocrinology, Department of Paediatrics, Department of Internal Medicine, Centre for Human Nutrition, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8537, USA.
Papers in Europe PMC - 07Topaloglu H3 papers · 2024
Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Papers in Europe PMC - 08Al Shidhani A2 papers · 2024
Department of Child Health, Division of Endocrinology, Sultan Qaboos University Hospital, Al-Khod, Muscat, Oman.
Papers in Europe PMC - 09Al Yaarubi S2 papers · 2024
Oman Medical Specialty Board, Muscat, Oman. alyaarubica@gmail.com.
Papers in Europe PMC - 10AlSaffar H2 papers · 2024
Department of Child Health, Division of Endocrinology, Sultan Qaboos University Hospital, Al-Khod, Muscat, Oman.
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).
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.
medium 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.
Broader category congenital generalized lipodystrophy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: congenital generalized lipodystrophy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Congenital generalized lipodystrophy type 4" OR "BSCL type 4" OR "Berardinelli-Seip syndrome type 4, BSCL type 4" OR "BSCL4" OR "CAVIN1 congenital generalised lipodystrophy (disease)" OR "CAVIN1 congenital generalized lipodystrophy (disease)" OR "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" OR "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1"
MeSH descriptor terms unioned into the query: Lipodystrophy, Congenital Generalized, Type 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital generalized lipodystrophy type 4" OR "BSCL type 4" OR "Berardinelli-Seip syndrome type 4, BSCL type 4" OR "BSCL4" OR "CAVIN1 congenital generalised lipodystrophy (disease)" OR "CAVIN1 congenital generalized lipodystrophy (disease)" OR "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" OR "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" OR "Lipodystrophy, Congenital Generalized, Type 4" OR "CAVIN1"
Recall-expansion terms: CAVIN1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital generalized lipodystrophy"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: GCL4; CGL4
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:11:11.336Z