ORPHA:93560
AApoAI amyloidosis
Also known as: Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant · Familial renal amyloidosis due to apolipoprotein A-I variant · Hereditary amyloid nephropathy due to apolipoprotein A-I variant · Hereditary renal amyloidosis due to apolipoprotein A-I variant
Publications
74
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
473
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. , and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019731
- UMLS:C5680269
Additional Mondo synonyms (5)
apolipoprotein A-I amyloidosis · familial amyloid nephropathy due to apolipoprotein A-I variant · familial renal amyloidosis due to apolipoprotein A-I variant · hereditary amyloid nephropathy due to apolipoprotein A-I variant · hereditary renal amyloidosis due to apolipoprotein A-I variant
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
74 matched papers (40 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?
74
74 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.
74 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
473
Distinct author names in 74 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.
- 01Gillmore JD8 papers · 2023
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK.
Papers in Europe PMC - 02Merlini G8 papers · 2022
Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, University of Pavia, P. le Golgi, 19, 27100 Pavia, Italy. gmerlini@smatteo.pv.it
Papers in Europe PMC - 03Gregorini G6 papers · 2015
Division of Nephrology, Spedali Civili, Brescia, Italy.
Papers in Europe PMC - 04Gursky O6 papers · 2026
Department of Physiology and Biophysics, Boston University School of Medicine, Boston, MA 02118. Electronic address: Gursky@bu.edu.
Papers in Europe PMC - 05Hawkins PN6 papers · 2023
National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, UCL, London, UK.
Papers in Europe PMC - 06Rowczenio D6 papers · 2022
National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, University College London, London, England.
Papers in Europe PMC - 07Lachmann HJ5 papers · 2023
National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, UCL, London, UK.
Papers in Europe PMC - 08Obici L5 papers · 2015
Biotechnology Research Laboratories, IRCCS Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.
Papers in Europe PMC - 09
- 10Scolari F5 papers · 2015
Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.
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. 5 observational studies 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.
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.
Observational and natural-history studies
5 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT07124377·RECRUITING·Phenotypic Manifestations of Hereditary ATTR Amyloidosis
Conditions: Hereditary Amyloidosis, Transthyretin-Related·Matched via recall expansion
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.
"AApoAI amyloidosis" OR "Apolipoprotein A-I amyloidosis" OR "Familial amyloid nephropathy due to apolipoprotein A-I variant" OR "Familial renal amyloidosis due to apolipoprotein A-I variant" OR "Hereditary amyloid nephropathy due to apolipoprotein A-I variant" OR "Hereditary renal amyloidosis due to apolipoprotein A-I variant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"AApoAI amyloidosis" OR "Apolipoprotein A-I amyloidosis" OR "Familial amyloid nephropathy due to apolipoprotein A-I variant" OR "Familial renal amyloidosis due to apolipoprotein A-I variant" OR "Hereditary amyloid nephropathy due to apolipoprotein A-I variant" OR "Hereditary renal amyloidosis due to apolipoprotein A-I variant" OR "familial visceral amyloidosis" OR "hereditary amyloidosis"
Recall-expansion terms: familial visceral amyloidosis, hereditary amyloidosis
Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T04:24:06.362Z