ORPHA:98434
Hereditary combined deficiency of vitamin K-dependent clotting factors
Also known as: Hereditary combined deficiency of factors II, VII, IX and X
Publications
13
25.8th percentile
Trials
0
Interventional, condition-specific
Researchers
106
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
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:0015722
- UMLS:C4510617
Additional Mondo synonyms (2)
congenital vitamin K-dependent coagulation factors combined deficiency · vitamin K-dependent clotting factors, combined deficiency of
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
13 matched papers (8 in last 10 years) Source
- Phenotype characterisedPresent
136 HPO annotations (e.g. Abnormal bleeding; Intracranial hemorrhage; Epistaxis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
136
Associated phenotypes · MONDO:0015722
- Abnormal bleeding
- Intracranial hemorrhage
- Epistaxis
- Prolonged prothrombin time
- Cerebral hemorrhage
Showing 5 of 136 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
13
13 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=3967) is 59.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
8 in the last 10 years · high confidence · 25.8th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
106
Distinct author names in 13 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.
- 01Lapecorella M2 papers · 2010
Haemophilia and Thrombosis Centre, University of L'Aquila, Ospedale San Salvatore, Via Vetoio 1, Coppito, L'Aquila, Italy. emofilia.aq@cc.univaq.it
Papers in Europe PMC - 02Mariani G2 papers · 2010Papers in Europe PMC
- 03Napolitano M2 papers · 2010
Haemophilia and Thrombosis Centre, University of L'Aquila, Italy.
Papers in Europe PMC - 04Al-Ali MT1 paper · 2021
Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Papers in Europe PMC - 05Alhamadeh Alswij M1 paper · 2025
Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic.
Papers in Europe PMC - 06
- 07AlStem A1 paper · 2025
Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic.
Papers in Europe PMC - 08Amberger JS1 paper · 2021
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Papers in Europe PMC - 09Amoroso L1 paper · 2017
UOC Oncology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Papers in Europe PMC - 10Ataya H1 paper · 2025
Department of Haematology, Al-Mouwasat University Hospital, Damascus, Syrian Arabic Republic.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (12)
- ctis·2024-516251-40-01·Authorised·Multi-Center, Placebo-Controlled, Phase 3 Study of Etripamil Nasal Spray (NS) in Patients with Atrial Fibrillation and Rapid Ventricular Rate (RVR). The ReVeRA-301 Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521929-32-01·Authorised·AugmENtation witH cAnnabidiol iN first episode psyChosis: a doublE blind randomised controlled trial (STEP-ENHANCE Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517710-15-00·Authorised, ongoing·Preoperative use of Romiplostim in thrombocytopenic patients undergoing cardiac surgery. A Phase 3, multicenter randomized double-blinded controlled against placebo study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518368-10-00·Authorised, recruiting·Phase I/II ex vivo gene therapy clinical trial for RDEB using autologous skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector
skipped — LLM skipped (--skip-llm)
- ctis·2024-518523-30-00·Revoked·A Phase 2b, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Assess the Safety and Efficacy of AD04 in Patients with Early Alzheimer’s Disease - ADVANCE
skipped — LLM skipped (--skip-llm)
- ctis·2024-518652-23-00·Cancelled·Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects
skipped — LLM skipped (--skip-llm)
- ctis·2023-507560-39-00·Authorised, ongoing·Phase 3, double-blind, placebo-controlled, multicentre study on the efficacy and safety of human plasma derived antithrombin (Atenativ) in heparin-resistant patients scheduled to undergo cardiac surgery necessitating cardiopulmonary bypass
skipped — LLM skipped (--skip-llm)
- ctis·2024-512388-29-00·Authorised, ongoing·A multicenter, randomized, double-blind, placebo-controlled, parallel, phase 3 study to assess the efficacy and safety of fibrinogen concentrate (FGTW) in the management of bleeding in patients undergoing complex cardiac surgery (involving CPB)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503241-63-00·Authorised, ongoing·A Phase 2/3 randomized controlled semi-blinded trial to investigate safety and effectiveness in visualization of the ureters with nizaracianine triflutate, administered intravenously in up to three divided doses, in participants (18 years or older) undergoing abdominopelvic surgical procedures [TRIPHASE Trial].
skipped — LLM skipped (--skip-llm)
- ctis·2023-506300-12-00·Cancelled·Effects of extensive Weight loss on Insulin resistance and Lipid-kinetics in people with obesity and fatty liver Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-503209-13-00·Cancelled·Co-administration of Acetaminophen with Ibuprofen to Improve Duct-Related Outcomes in Extremely Premature Infants – The ACEDUCT Trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-503012-16-00·Authorised, recruiting·TAK-330-3001 - A Phase 3, Prospective, Randomized, Open-label, Adaptive Group Sequential, Multicenter Trial with Blinded Endpoint Assessment to Evaluate the Efficacy and Safety of TAK-330 for the Reversal of Direct Oral Factor Xa Inhibitor-induced Anticoagulation in Patients Requiring Urgent Surgery/Invasive Procedure
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Hereditary combined deficiency of vitamin K-dependent clotting factors — check Associations / patient organisations on that page.
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.
"Hereditary combined deficiency of vitamin K-dependent clotting factors" OR "Hereditary combined deficiency of the vitamin K-dependent clotting factors" OR "Hereditary combined deficiency of factors II, VII, IX and X" OR "Hereditary combined deficiency of the factors II, VII, IX and X" OR "congenital vitamin K-dependent coagulation factors combined deficiency" OR "vitamin K-dependent clotting factors, combined deficiency of"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary combined deficiency of vitamin K-dependent clotting factors" OR "Hereditary combined deficiency of the vitamin K-dependent clotting factors" OR "Hereditary combined deficiency of factors II, VII, IX and X" OR "Hereditary combined deficiency of the factors II, VII, IX and X" OR "congenital vitamin K-dependent coagulation factors combined deficiency" OR "vitamin K-dependent clotting factors, combined deficiency of"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T05:18:25.852Z