ORPHA:79302
Congenital bile acid synthesis defect type 3
Also known as: BASD3 · Oxysterol 7-alpha-hydroxylase deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
15
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
95
Distinct authors in sample
Gene link
CYP7B1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe cholestatic liver disease.
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:0013439
- MeSH:C566340
- OMIM:613812
- UMLS:C3151147
Additional Mondo synonyms (6)
CBAS3 · CYP7B1 congenital bile acid synthesis defect · bile acid synthesis defect, congenital, type 3 · congenital bile acid synthesis defect caused by mutation in CYP7B1 · congenital bile acid synthesis defect type 3 · oxysterol 7-alpha-hydroxylase deficiency
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 — CYP7B1
- LiteraturePresent
15 matched papers (13 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 (CYP7B1).
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?
15
15 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.
15 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
95
Distinct author names in 15 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.
- 01Wang JS2 papers · 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. jshwang@shmu.edu.cn.
Papers in Europe PMC - 02Zhao J2 papers · 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Papers in Europe PMC - 03Acharya R1 paper · 2021
Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India.
Papers in Europe PMC - 04Agarwal S1 paper · 2021
Centre for Liver and Biliary Sciences, Max Super Speciality Hospital, New Delhi, India.
Papers in Europe PMC - 05
- 06Bakel LA1 paper · 2025
Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.
Papers in Europe PMC - 07Blanc L1 paper · 2021
Department of Molecular Medicine and Pediatrics, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA; Laboratory of Developmental Erythropoiesis, Les Nelkin Memorial Laboratory of Pediatric Oncology, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA. Electronic address: Lblanc@northwell.edu.
Papers in Europe PMC - 08Bove KE1 paper · 2008Papers in Europe PMC
- 09Brindley EC1 paper · 2021
Department of Molecular Medicine and Pediatrics, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA; Laboratory of Developmental Erythropoiesis, Les Nelkin Memorial Laboratory of Pediatric Oncology, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA.
Papers in Europe PMC - 10Campbell CL1 paper · 2017
Arthropod-Borne and Infectious Diseases Laboratory, Department of Microbiology, Immunology and Pathology, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado, USA.
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 congenital bile acid synthesis defect 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 bile acid synthesis defect
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 bile acid synthesis defect type 3" OR "BASD3" OR "Oxysterol 7-alpha-hydroxylase deficiency" OR "CBAS3" OR "CYP7B1 congenital bile acid synthesis defect" OR "bile acid synthesis defect, congenital, type 3" OR "congenital bile acid synthesis defect caused by mutation in CYP7B1"
MeSH descriptor terms unioned into the query: Bile Acid Synthesis Defect, Congenital, 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital bile acid synthesis defect type 3" OR "BASD3" OR "Oxysterol 7-alpha-hydroxylase deficiency" OR "CBAS3" OR "CYP7B1 congenital bile acid synthesis defect" OR "bile acid synthesis defect, congenital, type 3" OR "congenital bile acid synthesis defect caused by mutation in CYP7B1" OR "Bile Acid Synthesis Defect, Congenital, 3" OR "CYP7B1"
Recall-expansion terms: CYP7B1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital bile acid synthesis defect"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T02:14:16.940Z