ORPHA:1984
Fechtner syndrome
Also known as: Alport syndrome with leukocyte inclusions and macrothrombocytopenia
Publications
223
Trials
0
Interventional, condition-specific
Researchers
1,111
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 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
223 matched papers (92 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
223
223 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.
223 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).
92 in the last 10 years · low confidence
Phrase hits: 223 · MeSH hits: 0
Who's working on it?
1,111
Distinct author names in 200 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.
- 01Greinacher A13 papers · 2014
Institut für Klinische Immunologie und Transfusionsmedizin, Justus-Lieblig-Universität Giessen.
Papers in Europe PMC - 02Kunishima S9 papers · 2025
First Department of Internal Medicine, Nagoya University School of Medicine, Japan.
Papers in Europe PMC - 03Savoia A9 papers · 2012
Department of Medical Sciences, Institute for Maternal and Child Health – IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
Papers in Europe PMC - 04Pecci A8 papers · 2016
Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
Papers in Europe PMC - 05White JG8 papers · 2001Papers in Europe PMC
- 06Balduini CL7 papers · 2012
Department of Internal Medicine, University of Pavia-IRCCS Policlinico San Matteo Foundation, Pavia, Italy. c.balduini@smatteo.pv.it
Papers in Europe PMC - 07Seri M7 papers · 2008
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genoa, Italy.
Papers in Europe PMC - 08Ghiggeri GM6 papers · 2003
Laboratory on Pathophysiology of Uremia and Laboratory of Molecular Genetics, Istituto di Ricerca e Cura a Carattere Scientifico G. Gaslini, Genova, Italy. labnefro@ospedale-gaslini.ge.it
Papers in Europe PMC - 09Ravazzolo R6 papers · 2008Papers in Europe PMC
- 10Gangarossa S5 papers · 2003Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
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.
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.
"Fechtner syndrome" OR "Alport syndrome with leukocyte inclusions and macrothrombocytopenia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fechtner syndrome" OR "Alport syndrome with leukocyte inclusions and macrothrombocytopenia"
Study-type breakdown: 0 interventional · 1 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- "Fechtner syndrome" also appears on ORPHA:182050
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding
Ingested 2026-07-26T18:40:53.367Z