ORPHA:85450
Hereditary amyloidosis with primary renal involvement
Also known as: Amyloidosis, Ostertag type · Familial amyloid nephropathy · Familial renal amyloidosis · Hereditary amyloid nephropathy · Hereditary renal amyloidosis
Publications
376
76.8th percentile
Trials
2
Interventional, condition-specific
Researchers
1,158
Distinct authors in sample
Gene link
APOA1, B2M, FGA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007099
- MeSH:C538249
- OMIM:105200
- UMLS:C0268389
Additional Mondo synonyms (10)
German type amyloidosis · Ostertag type amyloidosis · amyloidosis, 3 or more types · amyloidosis, Ostertag type · amyloidosis, familial renal · amyloidosis, renal · familial amyloid nephropathy · familial renal amyloidosis · hereditary amyloid nephropathy · hereditary renal amyloidosis
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — APOA1, B2M, FGA, LYZ
- LiteraturePresent
376 matched papers (179 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 trialPresent
2 matched on ClinicalTrials.gov
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 (APOA1, B2M, FGA…).
GenCC classification: Strong.
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?
376
376 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.
376 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).
179 in the last 10 years · high confidence · 76.8th percentile (publications denominator)
Phrase hits: 376 · MeSH hits: 0
Who's working on it?
1,158
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.
- 01Benson MD11 papers · 2020
Department of Medicine, Indiana University School of Medicine, Indianapolis.
Papers in Europe PMC - 02Liepnieks JJ8 papers · 2010Papers in Europe PMC
- 03Hawkins PN7 papers · 2019
National Amyloidosis Centre and Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, UK.
Papers in Europe PMC - 04Gillmore JD6 papers · 2019
National Amyloidosis Centre, CAAPP, Department of Medicine, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, United Kingdom. j.gillmore@medsch.ucl.ac.uk
Papers in Europe PMC - 05Wang SX6 papers · 2025
Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital, Beijing, P.R. China.
Papers in Europe PMC - 06Yazaki M6 papers · 2018
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 975 West Walnut Street, 1B-503, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 07Gilbertson JA5 papers · 2019
National Amyloidosis Centre and Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, UK.
Papers in Europe PMC - 08Grateau G5 papers · 2009Papers in Europe PMC
- 09Liu D5 papers · 2024
Proteomics Laboratory, Medical and Healthy Analytical Center, Peking University Health Science Center, Beijing, PR China.
Papers in Europe PMC - 10Rowczenio D5 papers · 2019
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
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: hereditary amyloidosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Hereditary amyloidosis with primary renal involvement" OR "Amyloidosis, Ostertag type" OR "Familial amyloid nephropathy" OR "Familial renal amyloidosis" OR "Hereditary amyloid nephropathy" OR "Hereditary renal amyloidosis" OR "German type amyloidosis" OR "Ostertag type amyloidosis" OR "amyloidosis, 3 or more types" OR "amyloidosis, familial renal" OR "amyloidosis, renal"
MeSH descriptor terms unioned into the query: Amyloidosis, familial visceral
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary amyloidosis with primary renal involvement" OR "Amyloidosis, Ostertag type" OR "Familial amyloid nephropathy" OR "Familial renal amyloidosis" OR "Hereditary amyloid nephropathy" OR "Hereditary renal amyloidosis" OR "German type amyloidosis" OR "Ostertag type amyloidosis" OR "amyloidosis, 3 or more types" OR "amyloidosis, familial renal" OR "amyloidosis, renal" OR "Amyloidosis, familial visceral" OR "APOA1" OR "B2M" OR "FGA" OR "LYZ"
Recall-expansion terms: APOA1, B2M, FGA, LYZ
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary amyloidosis"
Query health: ok — strategies attempted: phrase, mesh, 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 2026-07-27T03:03:41.882Z