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ORPHA:228429

Congenital generalized lipodystrophy type 4

medium confidenceSubtype of disorder

Also known as: BSCL type 4 · Berardinelli-Seip syndrome type 4, BSCL type 4 · GCL4

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

901

86.3th percentile

Trials

0

Interventional, condition-specific

Researchers

410

Distinct authors in sample

Gene link

CAVIN1

Strong

Readiness

4/6

Stages with a signal

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — CAVIN1

  2. LiteraturePresent

    901 matched papers (765 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Acral overgrowth; Insulin resistance; Hyperlordosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

45

Associated phenotypes · MONDO:0013225

  • Acral overgrowth
  • Insulin resistance
  • Hyperlordosis
  • Tachycardia
  • Prominent umbilicus

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

901

901 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

901 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).

765 in the last 10 years · medium confidence · 86.3th percentile (publications denominator)

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Garg 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
  2. 02
    Akinci B4 papers · 2024

    Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.

    Papers in Europe PMC
  3. 03
    Akinci 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
  4. 04
    Li 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
  5. 05
    Magré 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
  6. 06
    Patni 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
  7. 07
    Topaloglu H3 papers · 2024

    Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

    Papers in Europe PMC
  8. 08
    Al Shidhani A2 papers · 2024

    Department of Child Health, Division of Endocrinology, Sultan Qaboos University Hospital, Al-Khod, Muscat, Oman.

    Papers in Europe PMC
  9. 09
    Al Yaarubi S2 papers · 2024

    Oman Medical Specialty Board, Muscat, Oman. alyaarubica@gmail.com.

    Papers in Europe PMC
  10. 10
    AlSaffar 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 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.

medium 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.

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.

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 Congenital generalized lipodystrophy type 4 — 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.

("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 (MESH:"Lipodystrophy, Congenital Generalized, Type 4") OR ("CAVIN1" OR "CAVIN1 syndrome" OR "CAVIN1-related")

Run this search on Europe PMC

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"

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; 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