ORPHA:1276
Brachydactyly-arterial hypertension syndrome
Also known as: Bilginturan brachydactyly · Bilginturan syndrome · Brachydactyly type E, with short stature and hypertension
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
59
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
535
Distinct authors in sample
Gene link
PDE3A
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.
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:0007211
- MeSH:C537095
- OMIM:112410
- UMLS:C1862170
Additional Mondo synonyms (1)
brachydactyly type E, with short stature and hypertension
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 — PDE3A
- LiteraturePresent
59 matched papers (44 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 (PDE3A).
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?
59
59 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.
59 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).
44 in the last 10 years · high confidence · 51.2th percentile (publications denominator)
Phrase hits: 59 · MeSH hits: 0
Who's working on it?
535
Distinct author names in 59 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.
- 01Klussmann E4 papers · 2023
Max Delbrück Center for Molecular Medicine Berlin (MDC), Berlin 13125, Germany. enno.klussmann@mdc-berlin.de.
Papers in Europe PMC - 02Liu Z4 papers · 2026
Shiyan Key Laboratory of Virology, Hubei University of Medicine, Shiyan, China.
Papers in Europe PMC - 03Aydin A3 papers · 2022
1] Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany. [2] Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Papers in Europe PMC - 04Bähring S3 papers · 2022
1] Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany. [2] Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Papers in Europe PMC - 05Ercu M3 papers · 2023
Max Delbrück Center for Molecular Medicine Berlin (MDC), Berlin 13125, Germany. maria.ercu@mdc-berlin.de.
Papers in Europe PMC - 06Luft FC3 papers · 2015
1] Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany. [2] Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany. [3] Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Papers in Europe PMC - 07Maass PG3 papers · 2022
Department of Genetics, Nephrology, Hypertension, and Vascular Injury, Max-Delbrück Center for Molecular Medicine (MDC), Robert-Rössle Strasse 10, 13125 Berlin, Germany.
Papers in Europe PMC - 08Toka HR3 papers · 2015
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA.
Papers in Europe PMC - 09Alyabyeva PV2 papers · 2023
Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia.
Papers in Europe PMC - 10
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 brachydactyly 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: brachydactyly
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.
"Brachydactyly-arterial hypertension syndrome" OR "Bilginturan brachydactyly" OR "Bilginturan syndrome" OR "Brachydactyly type E, with short stature and hypertension"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brachydactyly-arterial hypertension syndrome" OR "Bilginturan brachydactyly" OR "Bilginturan syndrome" OR "Brachydactyly type E, with short stature and hypertension" OR "PDE3A"
Recall-expansion terms: PDE3A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"brachydactyly"
Query health: suspect — strategies attempted: phrase, 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 2026-07-26T16:54:23.928Z