ORPHA:93561
ALys amyloidosis
Also known as: Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant · Hereditary amyloid nephropathy due to lysozyme variant · Hereditary renal amyloidosis due to lysozyme variant · Lysozyme amyloidosis
Publications
166
68.8th percentile
Trials
0
Interventional, condition-specific
Researchers
825
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 amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019732
- UMLS:C5680270
Additional Mondo synonyms (5)
familial amyloid nephropathy due to lysozyme variant · familial renal amyloidosis due to lysozyme variant · hereditary amyloid nephropathy due to lysozyme variant · hereditary renal amyloidosis due to lysozyme variant · lysozyme 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.”
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
166 matched papers (115 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?
166
166 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.
166 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).
115 in the last 10 years · high confidence · 68.8th percentile (publications denominator)
Phrase hits: 166 · MeSH hits: 0
Who's working on it?
825
Distinct author names in 166 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.
- 01Kumita JR8 papers · 2025
Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, UK.
Papers in Europe PMC - 02Stepanenko OV8 papers · 2026
Laboratory of Structural Dynamics, Stability and Folding of Proteins, Institute of Cytology, Russian Academy of Sciences, 4 Tikhoretsky Avenue, 194064 St. Petersburg, Russia.
Papers in Europe PMC - 03Dobson CM7 papers · 2012
Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, UK.
Papers in Europe PMC - 04Granel B6 papers · 2019
Service de Médecine Interne, Centre Hospitalier et Universitaire Timone, Marseille, France.
Papers in Europe PMC - 05Valleix S6 papers · 2019
Laboratoire de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Sorbonne Paris Cité, Faculté de Médecine Paris, AP-HP, Université Paris Descartes, Paris, France.
Papers in Europe PMC - 06Dumoulin M5 papers · 2020
Centre for Protein Engineering, University of Liège, Sart Tilman, 4000 Liège, Belgium.
Papers in Europe PMC - 07Gillmore JD5 papers · 2024
Immunological Medicine Unit, Division of Medicine, ICSM, Hammersmith Hospital, London, UK.
Papers in Europe PMC - 08Grateau G5 papers · 2014Papers in Europe PMC
- 09Sulatskaya AI5 papers · 2026
Laboratory of Structural Dynamics, Stability and Folding of Proteins, Institute of Cytology Russian Academy of Science, St. Petersburg, Russia.
Papers in Europe PMC - 10Sulatsky MI5 papers · 2026
Laboratory of Cell Morphology, Institute of Cytology Russian Academy of Science, St. Petersburg, Russia.
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.
"ALys amyloidosis" OR "Familial amyloid nephropathy due to lysozyme variant" OR "Familial renal amyloidosis due to lysozyme variant" OR "Hereditary amyloid nephropathy due to lysozyme variant" OR "Hereditary renal amyloidosis due to lysozyme variant" OR "Lysozyme amyloidosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALys amyloidosis" OR "Familial amyloid nephropathy due to lysozyme variant" OR "Familial renal amyloidosis due to lysozyme variant" OR "Hereditary amyloid nephropathy due to lysozyme variant" OR "Hereditary renal amyloidosis due to lysozyme variant" OR "Lysozyme amyloidosis" 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 2026-07-27T04:24:21.383Z