ORPHA:98886
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
9
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
73
Distinct authors in sample
Gene link
ITGA2
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:0013622
- MeSH:C566000
- OMIM:614200
- UMLS:C3280114
Additional Mondo synonyms (4)
BDPLT9 · GP Ia deficiency · collagen platelet receptor deficiency · glycoprotein Ia 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 — ITGA2
- LiteraturePresent
9 matched papers (5 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 (ITGA2).
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?
9
9 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.
9 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
73
Distinct author names in 9 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
- 02Angeles MM2 papers · 2026
National Kidney and Transplant Institute, Quezon City, The Philippines.
Papers in Europe PMC - 03Bonthuis M2 papers · 2026
Department of Medical Informatics, Amsterdam UMC, ESPN/ERA Registry, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Borzych-Dużałka D2 papers · 2026
Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdańsk, Gdańsk, Poland. dagab@gumed.edu.pl.
Papers in Europe PMC - 05Cano F2 papers · 2026
Luis Calvo Mackenna Children's Hospital, University of Chile, Santiago, Chile.
Papers in Europe PMC - 06Choi N2 papers · 2026
Seoul National University College of Medicine, Seoul National University, Children's Hospital, Seoul, Republic of Korea.
Papers in Europe PMC - 07Exantus J2 papers · 2026
Department of Pediatrics, Faculty of Medicine and Pharmacy, State University of Haiti, State University Hospital of Haiti, Port-Au-Prince, Haiti.
Papers in Europe PMC - 08Harambat J2 papers · 2026
Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France.
Papers in Europe PMC - 09Hashmi S2 papers · 2026
Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.
Papers in Europe PMC - 10Huque SS2 papers · 2026
Department of Pediatric Nephrology, Bangladesh Medical University, Dhaka, Bangladesh.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Bleeding diathesis due to integrin alpha2-beta1 deficiency" OR "BDPLT9" OR "GP Ia deficiency" OR "collagen platelet receptor deficiency" OR "glycoprotein Ia deficiency"
MeSH descriptor terms unioned into the query: Glycoprotein IA Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bleeding diathesis due to integrin alpha2-beta1 deficiency" OR "BDPLT9" OR "GP Ia deficiency" OR "collagen platelet receptor deficiency" OR "glycoprotein Ia deficiency" OR "ITGA2" OR "inherited bleeding disorder, platelet-type"
Recall-expansion terms: ITGA2, inherited bleeding disorder, platelet-type
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T05:39:52.312Z