ORPHA:271861
Hereditary ATTR amyloidosis
Synonyms: ATTRv amyloidosis · Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis · Hereditary TTR amyloid polyneuropathy · Hereditary TTR amyloidosis · Hereditary transthyretin amyloid polyneuropathy · hATTR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary ATTR amyloidosis | ATTRv amyloidosis · Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis · Hereditary TTR amyloid polyneuropathy · Hereditary TTR amyloidosis · Hereditary transthyretin amyloid polyneuropathy · hATTR |
| fr | Amylose ATTR héréditaire | Amylose de la TTR familiale · Amylose de la transthyrétine familiale |
| de | ATTR-Amyloidose, hereditäre | ATTRv-Amyloidose · Familiäre Transthyretin-bedingte Amyloidose · Hereditäre TTR-Amyloidose · Hereditäre TTR-Amyloidpolyneuropathie · Hereditäre Transthyretin-Amyloid-Polyneuropathie · TTR-bedingte Amyloidose, familiäre Form · hATTR |
| es | Amiloidosis ATTR hereditaria | Amiloidosis ATTRv · Amiloidosis familiar asociada a transtiretina · Amiloidosis familiar asociada al gen TTR · Amiloidosis hereditaria por TTR · Polineuropatía amiloide hereditaria por TTR · Polineuropatía amiloide hereditaria por transtiretina · hATTR |
| it | Amiloidosi ereditaria da ATTR | Amiloidosi ATTRv · Amiloidosi ereditaria da TTR · Amiloidosi familiare TTR-correlata · Amiloidosi familiare transtiretina-correlata · Polineuropatia amiloide ereditaria da TTR · Polineuropatia amiloide ereditaria da transtiretina · hATTR |
| nl | Hereditaire ATTR-amyloïdose | ATTRv-amyloïdose · Erfelijke ATTR-amyloïdose · Familiale TTR-gerelateerde amyloïdose · Familiale transthyretinegerelateerde amyloïdose · Hereditaire TTR-amyloïdose · Hereditaire TTR-amyloïdpolyneuropathie · Hereditaire transthyretine-amyloïdpolyneuropathie · hATTR |
| pt | Amiloidose ATTR hereditária | Amiloidose ATTRv · Amiloidose familiar TTR-relacionada · Amiloidose familiar transtirretina-relacionada · Amiloidose hereditária TTR · Polineuropatia amiloide TTR hereditária · Polineuropatia amiloide transtirretina hereditária · hATTR |
| pl | Dziedziczna amyloidoza ATTR | Rodzinna amyloidoza zależna od transtyretyny · Rodzinna amyloidoza zależna od TTR |
| cs | Dědičná ATTR amyloidóza | Familiární TTR-vázaná amyloidóza · Familiární transthyretinová amyloidóza |
| uk | Спадковий амілоїдоз ATTR | Амілоїдоз ATTRv · Сімейний амілоїдоз, повязаний з транстиретином · Сімейний амілоїдоз, повязаний з TTR · hATTR · Спадкова транстиретинова амілоїдна полінейропатія · Спадкова амілоїдна полінейропатія TTR · Спадковий амілоїдоз TTR |
| zh | 遗传性ATTR淀粉样变性 | 家族性转甲状腺素蛋白相关淀粉样变性 |
| tr | Kalıtsal ATTR amiloidoz | Ailesel TTR-ilişkili amiloidoz · Ailesel transtiretin-ilişkili amiloidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105210 | E | validated | |
| ICD-10 | E85.1 | NTBT | attributed | validated |
| ICD-11 | 5D00.20 | E | specific | validated |
| MONDO | 0007100 | E | validated | |
| MONDO | 7100 | E | validated | |
| UMLS | C5679761 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:444116Hereditary amyloidosis
rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:716446Rare disorder with progressive vitreoretinopathy disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TTR | ORPHA:85447ATTRV30M amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:12405 | ENSG00000118271 | 176300 | 18q12.1 | transthyretin | 18925456[PMID] |
| TTR | ORPHA:85451ATTRV122I amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:12405 | ENSG00000118271 | 176300 | 18q12.1 | transthyretin | 11752443[PMID]_25551524[PMID] |
5
Prevalence and incidence
41 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1481 / 100 000 | Greece | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.153 / 100 000 | Hungary | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1481 / 100 000 | India | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1578 / 100 000 | Ireland | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1428 / 100 000 | Israel | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.9046 / 100 000 | Italy | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1473 / 100 000 | Poland | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-5 / 10 000 | 19.9126 / 100 000 | Portugal | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1464 / 100 000 | Romania | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1485 / 100 000 | Russian Federation | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1428 / 100 000 | Slovenia | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1487 / 100 000 | Spain | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1476 / 100 000 | Sri Lanka | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.5816 / 100 000 | Sweden | Value and class | Validated | 29211930[PMID] |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.1445 / 100 000 | Switzerland | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1489 / 100 000 | Taiwan, Province of China | Value and class | Validated | 29211930[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0317 / 100 000 | Turkey | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.149 / 100 000 | United Kingdom | Value and class | Validated | 29211930[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0968 / 100 000 | Japan | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1482 / 100 000 | Korea, Republic of | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1666 / 100 000 | Luxembourg | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1485 / 100 000 | Malaysia | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.148 / 100 000 | Mexico | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2662 / 100 000 | Netherlands | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 100 000 | 0.1521 / 100 000 | New Zealand | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2222 / 100 000 | Worldwide | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1474 / 100 000 | Argentina | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.147 / 100 000 | Australia | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1511 / 100 000 | Austria | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1484 / 100 000 | Bangladesh | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1504 / 100 000 | Belgium | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5694 / 100 000 | Bulgaria | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1476 / 100 000 | Canada | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1481 / 100 000 | China | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.25 / 100 000 | Cyprus | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1509 / 100 000 | Czech Republic | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1403 / 100 000 | Denmark | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.149 / 100 000 | Ecuador | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1454 / 100 000 | Finland | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.7514 / 100 000 | France | Value and class | Validated | 29211930[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1486 / 100 000 | Germany | Value and class | Validated | 29211930[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.
6
HPO phenotypes
44 annotations · validated 2026-04-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000970 | Anhidrosis | |
| HP:0011675 | Arrhythmia | |
| HP:0001635 | Congestive heart failure | |
| HP:0002019 | Constipation | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0002014 | Diarrhea | |
| HP:0002578 | Gastroparesis | |
| HP:0000501 | Glaucoma | |
| HP:0012722 | Heart block | |
| HP:0000802 | Impotence | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000112 | Nephropathy | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0001723 | Restrictive cardiomyopathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0031327 | Transthyretin cardiac amyloidosis | |
| HP:0000016 | Urinary retention | |
| HP:0100832 | Vitreous floaters | |
| Occasional (29-5%) | ||
| HP:0025309 | Abnormal pupil shape | |
| HP:0031006 | Acroparesthesia | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0005110 | Atrial fibrillation | |
| HP:0011970 | Cerebral amyloid angiopathy | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0012378 | Fatigue | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0033748 | Hypoesthesia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0031185 | Increased circulating NT-proBNP concentration | |
| HP:0410174 | Increased circulating troponin T concentration | |
| HP:0004610 | Lumbar spinal canal stenosis | |
| HP:0001324 | Muscle weakness | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0012531 | Pain | |
| HP:0000083 | Renal insufficiency | |
| HP:0001645 | Sudden cardiac death | |
| HP:0100550 | Tendon rupture | |
| HP:0001824 | Weight loss | |
| HP:0031189 | Wrist drop | |
| Excluded (0%) | ||
| HP:0012664 | Reduced left ventricular ejection fraction | |
Annotation source: 41209119[PMID]_35114877[PMID]_20301373[PMID]_28840452[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/271861
- This record as JSON: /data/d/271861.json