ORPHA:596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Publications
14
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
101
Distinct authors in sample
Gene link
FGFR2
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:0020667
- OMIM:207410
- UMLS:C2936791
Additional Mondo synonyms (1)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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 — FGFR2
- LiteraturePresent
14 matched papers (11 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 (FGFR2).
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?
14
14 papers have ever been indexed 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.
14 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).
11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)
Phrase hits: 14 · MeSH hits: 0
Who's working on it?
101
Distinct author names in 14 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.
- 01
- 02Zhang L2 papers · 2024
Genetic Medical Center, Northwest Women's and Children's Hospital, Xi'an, 7100061, Shaanxi, People's Republic of China.
Papers in Europe PMC - 03AnandhaKumar C1 paper · 2014
Department of Chemistry, Graduate School of Science, Kyoto University, Sakyo, Kyoto 606-8501, Japan.
Papers in Europe PMC - 04Bando T1 paper · 2014
Department of Chemistry, Graduate School of Science, Kyoto University, Sakyo, Kyoto 606-8501, Japan.
Papers in Europe PMC - 05Brunelle P1 paper · 2025
CHU Lille, Université de Lille, Institut de Génétique Médicale, ULR7364 RADEME, Lille, France.
Papers in Europe PMC - 06Bukowska-Olech E1 paper · 2020
Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland.
Papers in Europe PMC - 07Chen C1 paper · 2026
Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China.
Papers in Europe PMC - 08Chen L1 paper · 2024
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.
Papers in Europe PMC - 09Cheung CKY1 paper · 2026
Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China.
Papers in Europe PMC - 10Cocciadiferro D1 paper · 2025
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
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.
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.
Broader category Antley-Bixler syndrome 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: Antley-Bixler syndrome
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.
"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" OR "Antley-Bixler syndrome without genital anomaly or disorder of the steroidogenesis" OR "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" OR "Antley-Bixler syndrome without genital anomaly or disorder of the steroidogenesis" OR "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Antley-Bixler syndrome"
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
Ingested 2026-07-27T18:50:47.311Z