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ORPHA:373

Simpson-Golabi-Behmel syndrome

low confidenceDisorder

Also known as: DGSX · Golabi-Rosen syndrome · SDYS · SGBS · SGBS1 · Simpson dysmorphia syndrome · Simpson-Golabi-Behmel syndrome type 1 · X-linked dysplasia gigantism syndrome

Publications

1,313

Trials

46

Interventional, condition-specific

Researchers

1,374

Distinct authors in sample

Gene link

GPC3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked multiple anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable malformations, organomegaly and an increased tumor risk.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

SGB syndrome · Sara Angers 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GPC3

  2. LiteraturePresent

    1,313 matched papers (743 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    46 matched on ClinicalTrials.gov (31 recruiting in sample)

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 (GPC3).

GenCC classification: Definitive.

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?

1,313

1,313 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=5449) is 41.

1,313 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).

743 in the last 10 years · low confidence

Phrase hits: 1,313 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,374

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wabitsch M30 papers · 2026

    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.

    Papers in Europe PMC
  2. 02
    Li J6 papers · 2025

    Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA.

    Papers in Europe PMC
  3. 03
    Liu Y6 papers · 2026

    Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis, IN 46202, USA.

    Papers in Europe PMC
  4. 04
    Villarroya F6 papers · 2026

    Biochemistry and Molecular Biomedicine, Institute of Biomedicine, University of Barcelona, Barcelona, Spain fvillarroya@ub.edu.

    Papers in Europe PMC
  5. 05
    Quesada-López T5 papers · 2025

    Biochemistry and Molecular Biomedicine, Institute of Biomedicine, University of Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  6. 06
    Tews D5 papers · 2026

    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.

    Papers in Europe PMC
  7. 07
    Ali U4 papers · 2025

    Department of Agricultural, Food, Environmental and Animal Sciences, University of Udine, Udine, Italy.

    Papers in Europe PMC
  8. 08
    Kalish JM4 papers · 2024

    Division of Human Genetics, Children's Hospital of Philadelphia.

    Papers in Europe PMC
  9. 09
    Moizard MP4 papers · 2019

    Service de Génétique, CHU de Tours, Hôpital Bretonneau, Tours, France.

    Papers in Europe PMC
  10. 10
    Toutain A4 papers · 2019

    Service de Génétique, CHU de Tours, Hôpital Bretonneau, Tours, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

46

interventional trials for this specific condition

46 interventional trials matched this specific condition name; 31 currently recruiting in our sample.

Data as of 27 July 2026

46 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.9th percentile).

low confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

46 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-26

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.

"Simpson-Golabi-Behmel syndrome" OR "Golabi-Rosen syndrome" OR "SGBS1" OR "Simpson dysmorphia syndrome" OR "Simpson-Golabi-Behmel syndrome type 1" OR "X-linked dysplasia gigantism syndrome" OR "SGB syndrome" OR "Sara Angers syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Simpson-Golabi-Behmel syndrome" OR "Golabi-Rosen syndrome" OR "SGBS1" OR "Simpson dysmorphia syndrome" OR "Simpson-Golabi-Behmel syndrome type 1" OR "X-linked dysplasia gigantism syndrome" OR "SGB syndrome" OR "Sara Angers syndrome" OR "GPC3"

Recall-expansion terms: GPC3

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 46 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DGSX; SDYS; SGBS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1313) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:36:32.377Z