ORPHA:238269
AApoAII amyloidosis
Also known as: Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant · Familial renal amyloidosis due to apolipoprotein A-II variant · Hereditary amyloid nephropathy due to apolipoprotein A-II variant · Hereditary renal amyloidosis due to apolipoprotein A-II variant
Publications
66
45.7th percentile
Trials
0
Interventional, condition-specific
Researchers
282
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 variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016533
- UMLS:C5679845
Additional Mondo synonyms (4)
familial amyloid nephropathy due to apolipoprotein A-II variant · familial renal amyloidosis due to apolipoprotein A-II variant · hereditary amyloid nephropathy due to apolipoprotein A-II variant · hereditary renal amyloidosis due to apolipoprotein A-II 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
66 matched papers (33 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?
66
66 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.
66 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).
33 in the last 10 years · high confidence · 45.7th percentile (publications denominator)
Phrase hits: 66 · MeSH hits: 0
Who's working on it?
282
Distinct author names in 66 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.
- 01Higuchi K31 papers · 2025
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 02Mori M24 papers · 2025
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 03Sawashita J17 papers · 2025
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 04Miyahara H13 papers · 2025
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 05Fu X10 papers · 2011
Department of Aging Biology, Institute on Aging and Adaptation, Shinshu University Graduate School of Medicine, Asahi 3-1-1, Matsumoto 390-8621, Japan.
Papers in Europe PMC - 06Dai J9 papers · 2025
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 07Kametani F8 papers · 2023
Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan. kametani-fy@igakuken.or.jp.
Papers in Europe PMC - 08Ding X7 papers · 2019
Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 290-8621, Japan.
Papers in Europe PMC - 09Hosokawa M6 papers · 2006Papers in Europe PMC
- 10Naiki H6 papers · 2015
Division of Molecular Pathology, Department of Pathological Sciences, Faculty of Medical Science, University of Fukui, Yoshida-gun, Fukui 910-1193, Japan;
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.
"AApoAII amyloidosis" OR "Apolipoprotein A-II amyloidosis" OR "Familial amyloid nephropathy due to apolipoprotein A-II variant" OR "Familial renal amyloidosis due to apolipoprotein A-II variant" OR "Hereditary amyloid nephropathy due to apolipoprotein A-II variant" OR "Hereditary renal amyloidosis due to apolipoprotein A-II variant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"AApoAII amyloidosis" OR "Apolipoprotein A-II amyloidosis" OR "Familial amyloid nephropathy due to apolipoprotein A-II variant" OR "Familial renal amyloidosis due to apolipoprotein A-II variant" OR "Hereditary amyloid nephropathy due to apolipoprotein A-II variant" OR "Hereditary renal amyloidosis due to apolipoprotein A-II 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 2026-07-27T10:20:53.693Z