ORPHA:330001
Wild type ATTR amyloidosis
Synonyms: ATTRwt amyloidosis · ATTRwt-related amyloidosis · Senile systemic amyloidosis · Wild type ATTR-related amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wild type ATTR amyloidosis | ATTRwt amyloidosis · ATTRwt-related amyloidosis · Senile systemic amyloidosis · Wild type ATTR-related amyloidosis |
| fr | Amylose ATTR wild type | Amylose associée à TTRwt · Amylose systémique sénile · Amylose à ATTRwt |
| de | Wildtyp-ATTR-Amyloidose | ATTRwt-Amyloidose · Amyloidose, ATTRwt-assoziierte · Senile systemische Amyloidose · Wild-Typ ATTR-abhängige Amyloidose |
| es | Amiloidosis ATTR forma nativa | Amiloidosis ATTRwt · Amiloidosis asociada a ATTR tipo salvaje · Amiloidosis asociada a ATTRwt · Amiloidosis sistémica senil |
| it | Amiloidosi ATTR tipo selvatico | Amiloidosi ATTRwt · Amiloidosi correlata a ATTR tipo selvatico · Amiloidosi correlata a ATTRwt · Amiloidosi sistemica senile |
| nl | Wild-type ATTR-amyloïdose | ATTRwt-amyloïdose · ATTRwt-gerelateerde amyloïdose · Seniele systemische amyloïdose · Wild-type ATTR-gerelateerde amyloïdose |
| pt | Amiloidose ATTR tipo selvagem | Amiloidose ATTR-relacionada tipo selvagem · Amiloidose ATTRwt · Amiloidose ATTRwt-relacionada · Amiloidose sistémica senil |
| pl | Dziki typ amyloidozy ATTR | Amyloidoza ATTRwt · Amyloidoza zależna od ATTRwt · Dziki typ amyloidozy zależnej od ATTRwt · SSA · Starcza amyloidoza układowa · Amyloidoza związana z dzikim typem ATTR |
| cs | Divoký typ ATTR amyloidózy | ATTRwt amyloidóza · ATTRwt-vázaná amyloidóza · SSA · Senilní systémová amyloidóza · Divoký typ ATTR-vázané amyloidózy |
| uk | Амілоїдоз ATTR дикого типу | Амілоїдоз ATTRwt · Амілоїдоз, повязаний з ATTRwt · Старечий системний амілоїдоз · Амілоїдоз дикого типу, повязаний з ATTR |
| zh | 野生型ATTR淀粉样变性 | 野生型ATTR相关淀粉样变性 |
| tr | Yabani tip ATTR amiloidoz | SSA · ATTRwt amiloidoz · ATTRwt-ilişkili amiloidoz · Senil sistemik amiloidoz · Yabanıl tip ATTR-ilişkili amiloidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.8 | NTBT | attributed | validated |
| ICD-11 | BC43.20 | NTBT | index | validated |
| MONDO | 0018018 | E | validated | |
| UMLS | C0342623 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 1.72 / 100 000 | Worldwide | Value and class | Validated | 32633805[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
41 annotations · validated 2026-04-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001635 | Congestive heart failure | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:4000004 | Myocardial late gadolinium enhancement | |
| HP:0010741 | Pedal edema | |
| HP:0002202 | Pleural effusion | |
| HP:0100598 | Pulmonary edema | |
| HP:0031327 | Transthyretin cardiac amyloidosis | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0011675 | Arrhythmia | |
| HP:0005110 | Atrial fibrillation | |
| HP:0005341 | Autonomic bladder dysfunction | |
| HP:0002607 | Bowel incontinence | |
| HP:0002028 | Chronic diarrhea | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002240 | Hepatomegaly | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0031185 | Increased circulating NT-proBNP concentration | |
| HP:0410173 | Increased circulating troponin I concentration | |
| HP:0410174 | Increased circulating troponin T concentration | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0000763 | Sensory neuropathy | |
| Occasional (29-5%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001541 | Ascites | |
| HP:0001662 | Bradycardia | |
| HP:0033748 | Hypoesthesia | |
| HP:0001658 | Myocardial infarction | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0001698 | Pericardial effusion | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001824 | Weight loss | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 35343098[PMID]_34994254[PMID]_27568874[PMID]_26224076[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/330001
- This record as JSON: /data/d/330001.json