ATTRV30M amyloidosis
disease diseaseOn this page
Also known as amyloidosis transthyretin relatedATTRV30M-related amyloidosisfamilial amyloid polyneuropathy type Ifamilial amyloid polyneuropathy, Portuguese-Swedish-Japanese typehereditary ATTRV30M-related amyloidosistransthyretin amyloid neuropathytransthyretin amyloid polyneuropathyTTR amyloid neuropathyy
Summary
ATTRV30M amyloidosis (MONDO:0100552) is a disease and 3 clinical trials. Top therapeutic interventions include tafamidis meglumine. A subtype of amyloidosis, hereditary systemic 1 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 6-9 / 10 000 (Portugal) [Orphanet-validated]
- Phenotypes (HPO): 14
- Clinical trials: 3
Clinical features
Epidemiology
Prevalence records
7 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.69 | Cyprus | Validated |
| Point prevalence | 6-9 / 10 000 | 90 | Portugal | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Japan | Validated |
| Point prevalence | 1-9 / 100 000 | 3.7 | Cyprus | Validated |
| Point prevalence | 1-9 / 100 000 | 3 | Spain | Validated |
| Annual incidence | 1-9 / 100 000 | 3.75 | Sweden | Not yet validated |
| Point prevalence | 6-9 / 10 000 | 97.5 | Sweden | Not yet validated |
Signs & symptoms
Clinical features (HPO)
14 HPO clinical features (Orphanet curated; top 14 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000112 | Nephropathy | Very frequent (80-99%) |
| HP:0001271 | Polyneuropathy | Very frequent (80-99%) |
| HP:0000802 | Impotence | Frequent (30-79%) |
| HP:0001638 | Cardiomyopathy | Frequent (30-79%) |
| HP:0001640 | Cardiomegaly | Frequent (30-79%) |
| HP:0001678 | Atrioventricular block | Frequent (30-79%) |
| HP:0001824 | Weight loss | Frequent (30-79%) |
| HP:0002014 | Diarrhea | Frequent (30-79%) |
| HP:0002019 | Constipation | Frequent (30-79%) |
| HP:0011675 | Arrhythmia | Frequent (30-79%) |
| HP:0012185 | Constrictive median neuropathy | Frequent (30-79%) |
| HP:0012211 | Abnormal renal physiology | Frequent (30-79%) |
| HP:0012332 | Abnormal autonomic nervous system physiology | Frequent (30-79%) |
| HP:0100832 | Vitreous floaters | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ATTRV30M amyloidosis |
| Mondo ID | MONDO:0100552 |
| Orphanet | 85447 |
| ICD-11 | 1736273667 |
| UMLS | C0268384 |
| MedGen | 78669 |
| GARD | 0016754 |
| Is cancer (heuristic) | no |
Also known as: amyloidosis transthyretin related · ATTRV30M-related amyloidosis · familial amyloid polyneuropathy type I · familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type · hereditary ATTRV30M-related amyloidosis · transthyretin amyloid neuropathy · transthyretin amyloid polyneuropathy · TTR amyloid neuropathyy
Data availability: 10 cell lines.
Disease family
This is a subtype of amyloidosis, hereditary systemic 1. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › hereditary amyloidosis › familial amyloid neuropathy › amyloidosis, hereditary systemic 1 › ATTRV30M amyloidosis
Related subtypes (1): ATTRV122I amyloidosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE4 | 2 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06940336 | PHASE4 | RECRUITING | To Evaluate the Efficacy and Safety of Tafamidis Meglumine Soft Capsules in the Treatment of Adult Patients With Transthyretin Amyloid Polyneuropathy |
| NCT04828993 | PHASE4 | COMPLETED | The Effect Of Tafamidis Meglumine In Transthyretin Amyloid Polyneuropathy Patients |
| NCT06845644 | Not specified | RECRUITING | Longitudinal Quantitative Neuromuscular MRI in Neuropathic Patients |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TAFAMIDIS MEGLUMINE | 4 | 1 |
Related Atlas pages
- Drugs: Tafamidis Meglumine