ORPHA:483
Congenital high-molecular-weight kininogen deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
129
45.2th percentile
Trials
0
Interventional, condition-specific
Researchers
594
Distinct authors in sample
Gene link
KNG1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009234
- MeSH:C537060
- OMIM:228960
- UMLS:C0272340
- NCIT:C98946
Additional Mondo synonyms (2)
high molecular weight kininogen deficiency · kininogen 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
Definitive — KNG1
- LiteraturePresent
129 matched papers (32 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 (KNG1).
GenCC classification: Definitive.
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?
129
129 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.
129 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).
32 in the last 10 years · high confidence · 45.2th percentile (publications denominator)
Phrase hits: 129 · MeSH hits: 0
Who's working on it?
594
Distinct author names in 129 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.
- 01Colman RW23 papers · 2017
Sol Sherry Thrombosis Research Center, Temple University School of Medicine, Philadelphia, PA.
Papers in Europe PMC - 02Oh-ishi S11 papers · 1995
Department of Pharmacology, School of Pharmac. Sci., Kitasato Univ., Tokyo, Japan.
Papers in Europe PMC - 03Schmaier AH8 papers · 2020
Division of Hematology and Oncology, Department of Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, 44106, USA.
Papers in Europe PMC - 04Hayashi H7 papers · 1998
Departments of Blood Transfusion and Internal Medicine, Okayama University Medical School, Japan.
Papers in Europe PMC - 05Hayashi I7 papers · 2003
Department of Pharmacology, School of Pharmaceutical Sciences, Kitasato University, Tokyo, Japan.
Papers in Europe PMC - 06Scott CF7 papers · 1993Papers in Europe PMC
- 07Kimura I6 papers · 1990Papers in Europe PMC
- 08Ishimaru F5 papers · 1999
Department of Medicine, University of Okayama, Japan. ishimaru@hospital.okayama-u.ac.jp
Papers in Europe PMC - 09Kaplan AP5 papers · 1977Papers in Europe PMC
- 10Katori M5 papers · 2010
Department of Pharmacology, School of Medicine, Kitasato University, Sagamihara, Kanagawa 228-8555, Japan. hy3m-ktr@asahi-net.or.jp.
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.
"Congenital high-molecular-weight kininogen deficiency" OR "high molecular weight kininogen deficiency" OR "kininogen deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital high-molecular-weight kininogen deficiency" OR "high molecular weight kininogen deficiency" OR "kininogen deficiency" OR "KNG1"
Recall-expansion terms: KNG1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T13:59:58.022Z