ORPHA:327
Congenital factor VII deficiency
Also known as: Congenital proconvertin deficiency · Hypoproconvertinemia
Publications
467
62.6th percentile
Trials
4
Interventional, condition-specific
Researchers
950
Distinct authors in sample
Gene link
F7
Definitive
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009211
- OMIM:227500
- UMLS:C0272320
- NCIT:C131631
Additional Mondo synonyms (3)
congenital factor VII deficiency · congenital proconvertin deficiency · hypoproconvertinemia
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — F7
- LiteraturePresent
467 matched papers (143 in last 10 years) Source
- Phenotype characterisedPresent
22 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 designationPartial
3 EMA designations (none yet with FDA orphan-indication approval) — e.g. recombinant factor VIIa modified with three terminal repeats derived from the β chain of human chorionic gonadotropin Source
- Interventional trialPresent
4 matched on ClinicalTrials.gov (2 recruiting in sample)
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 (F7).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
22
Associated phenotypes · MONDO:0009211
- Abnormal bleeding
- Intracranial hemorrhage
- Epistaxis
- Menorrhagia
- Intramuscular hematoma
Showing 5 of 22 — 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)
3
Designations · no FDA orphan-indication approval yet
- EMA recombinant factor VIIa modified with three terminal repeats derived from the β chain of human chorionic gonadotropinTreatment of congenital factor VII deficiency · 22/08/2014 · PositiveEMA designation
- EMA adeno-associated viral vector serotype 8 containing the human factor-VII geneTreatment of congenital factor VII deficiency · 15/01/2015 · PositiveEMA designation
- EMA recombinant fusion protein linking coagulation factor VIIa with albuminTreatment of congenital factor VII deficiency · 07/10/2013 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
467
467 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=3967) is 59.
467 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).
143 in the last 10 years · high confidence · 62.6th percentile (publications denominator)
Phrase hits: 459 · MeSH hits: 0
Who's working on it?
950
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Mariani G9 papers · 2021
Dipartimento di Medicina Interna e Sanità Pubblica, Università de L'Aquila, Italy.
Papers in Europe PMC - 02
- 03Ingerslev J6 papers · 2016
Centre for Haemophilia & Thrombosis, University Hospital Skejby, Aarhus, Denmark.
Papers in Europe PMC - 04Bernardi F5 papers · 2021
Department of Life Science and Biotechnology, University of Ferrara, Ferrara. ber@unife.it.
Papers in Europe PMC - 05Chuansumrit A5 papers · 2025
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Papers in Europe PMC - 06
- 07Auerswald G4 papers · 2016
Klinikum Bremen-Mitte, Prof.-Hess Kinderklinik, Bremen, Germany.
Papers in Europe PMC - 08Cooper DL4 papers · 2020
Clinical Development, Medical and Regulatory Affairs, Novo Nordisk Inc., Plainsboro, NJ, USA.
Papers in Europe PMC - 09Kenet G4 papers · 2023
National Hemophilia Center, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Papers in Europe PMC - 10Schved JF4 papers · 2016
Laboratory of Haematology, University Hospital, Montpellier, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 5 trials are registered for factor VII deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 28 July 2026
4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).
high confidence · 88.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07347249·RECRUITING·A Clinical Study to Assess Sutacimig in Participants With Congenital Factor VII Deficiency
Not reviewed·Conditions: Congenital Factor VII Deficiency·Matched via name phrase
- NCT07644832·RECRUITING·An Open-label, Multicenter Phase I/II Clinical Trial to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetic/Pharmacodynamic (PK/PD) Characteristics of SR604 Injection in Patients With Hemophilia A/B and Congenital Factor VII Deficiency
Not reviewed·Conditions: Hemophilia A · Hemophilia B · Factor VII Deficiency·Matched via name phrase
Broader category: factor VII deficiency
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Not reviewed·Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
- NCT06349473·RECRUITING·A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)
Not reviewed·Conditions: Healthy Participants · Hemophilia A · Hemophilia B · Factor VII Deficiency·Matched via name phrase
- NCT07711158·NOT YET RECRUITING·A Phase II Exploratory Study of SR604 Injection Evaluating the Safety and Efficacy in the Treatment of Congenital Coagulation Factor VII Deficiency
Not reviewed·Conditions: Factor VII Deficiency·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
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 (1)
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 Congenital factor VII deficiency — 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.
("Congenital factor VII deficiency" OR "Congenital proconvertin deficiency" OR "Hypoproconvertinemia") OR ("F7 syndrome" OR "F7-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital factor VII deficiency" OR "Congenital proconvertin deficiency" OR "Hypoproconvertinemia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"factor VII deficiency"
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 2026-07-26T13:25:02.141Z