wild type ATTR amyloidosis
diseaseOn this page
Also known as ATTRwt amyloidosisATTRwt-related amyloidosisSenile systemic amyloidosisSSAwild type ATTR-related amyloidosis
Summary
wild type ATTR amyloidosis (MONDO:0018018) is a disease and 5 clinical trials. Top therapeutic interventions include patisiran. A subtype of non-familial restrictive cardiomyopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 32
- Clinical trials: 5
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 1.72 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
32 HPO clinical features (Orphanet curated; top 32 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001635 | Congestive heart failure | Very frequent (80-99%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Very frequent (80-99%) |
| HP:0001658 | Myocardial infarction | Very frequent (80-99%) |
| HP:0002202 | Pleural effusion | Very frequent (80-99%) |
| HP:0003115 | Abnormal EKG | Very frequent (80-99%) |
| HP:0006530 | Abnormal pulmonary interstitial morphology | Very frequent (80-99%) |
| HP:0010741 | Pedal edema | Very frequent (80-99%) |
| HP:0031327 | Transthyretin cardiac amyloidosis | Very frequent (80-99%) |
| HP:0100598 | Pulmonary edema | Very frequent (80-99%) |
| HP:0000763 | Sensory neuropathy | Frequent (30-79%) |
| HP:0002028 | Chronic diarrhea | Frequent (30-79%) |
| HP:0002240 | Hepatomegaly | Frequent (30-79%) |
| HP:0002254 | Intermittent diarrhea | Frequent (30-79%) |
| HP:0002495 | Impaired vibratory sensation | Frequent (30-79%) |
| HP:0002579 | Gastrointestinal dysmotility | Frequent (30-79%) |
| HP:0002607 | Bowel incontinence | Frequent (30-79%) |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Frequent (30-79%) |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | Frequent (30-79%) |
| HP:0005110 | Atrial fibrillation | Frequent (30-79%) |
| HP:0005341 | Autonomic bladder dysfunction | Frequent (30-79%) |
| HP:0011675 | Arrhythmia | Frequent (30-79%) |
| HP:0012185 | Constrictive median neuropathy | Frequent (30-79%) |
| HP:0012332 | Abnormal autonomic nervous system physiology | Frequent (30-79%) |
| HP:0200101 | Decreased/absent ankle reflexes | Frequent (30-79%) |
| HP:0000083 | Renal insufficiency | Occasional (5-29%) |
| HP:0000093 | Proteinuria | Occasional (5-29%) |
| HP:0000100 | Nephrotic syndrome | Occasional (5-29%) |
| HP:0000112 | Nephropathy | Occasional (5-29%) |
| HP:0001650 | Aortic valve stenosis | Occasional (5-29%) |
| HP:0001662 | Bradycardia | Occasional (5-29%) |
| HP:0001824 | Weight loss | Occasional (5-29%) |
| HP:0003416 | Spinal canal stenosis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | wild type ATTR amyloidosis |
| Mondo ID | MONDO:0018018 |
| Orphanet | 330001 |
| DOID | DOID:0080937 |
| ICD-10-CM | E85.82 |
| ICD-11 | 25699053 |
| SNOMED CT | 237877004 |
| UMLS | C0342623 |
| MedGen | 87446 |
| GARD | 0021501 |
| Is cancer (heuristic) | no |
Also known as: ATTRwt amyloidosis · ATTRwt-related amyloidosis · Senile systemic amyloidosis · SSA · wild type ATTR-related amyloidosis
Disease family
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › restrictive cardiomyopathy › non-familial restrictive cardiomyopathy › wild type ATTR amyloidosis
Related subtypes (6): cardiac sarcoidosis, hypereosinophilic syndrome, tropical endomyocardial fibrosis, Loeffler endocarditis, AL amyloidosis, AA 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: 5.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 4 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05023889 | EARLY_PHASE1 | COMPLETED | Spectrum of Peripheral and Autonomic Neuropathies in Patients With aTTRwt Amyloidosis and Response to Patisiran Therapy |
| NCT07314268 | Not specified | RECRUITING | ATTR Amyloid Cardiomyopathy: Characterization of Extracellular Vesicles as Potential Disease Stratifiers and Prognostic Biomarkers |
| NCT01604122 | Not specified | COMPLETED | Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers |
| NCT02792790 | Not specified | COMPLETED | Carpal Tunnel Syndrome and Amyloid Cardiomyopathy |
| NCT06261216 | Not specified | COMPLETED | Association Between Lifetime Physical Activity and Exercise and the Development of Wild-type Transthyretin Amyloid Cardiomyopathy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PATISIRAN | 3 | 1 |
Related Atlas pages
- Drugs: Patisiran