ORPHA:85451
ATTRV122I amyloidosis
Synonyms: ATTRV122I-related amyloidosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ATTRV122I amyloidosis | ATTRV122I-related amyloidosis |
| fr | Amylose ATTRV122I | Amylose associée à TTRV122I |
| de | ATTRV122I-Amyloidose | |
| es | Amiloidosis ATTRV122I | Amiloidosis asociada a ATTRV122I |
| it | Amiloidosi ATTRV122I | Amiloidosi ATTRV122I-correlata |
| nl | ATTRV122I-amyloïdose | ATTRV122I-gerelateerde amyloïdose |
| pt | Amiloidose ATTRV122I | Amiloidose ATTRV122I-relacionada |
| pl | Amyloidoza ATTRV122I | Amyloidoza sercowa zależna od TTR · Amyloidoza zależna od ATTRV122I · Kardiomiopatia amyloidowa zależna od TTR · Kardiomiopatia ATTR · Rodzinna kardiomiopatia amyloidowa zalezna od transtyretyny · Transtyretynowa kardiomiopatia amyloidowa |
| cs | ATTRV122I amyloidóza | ATTR kardiomyopatie · ATTRV122I-vázaná amyloidóza · TTR-vázaná amyloidní kardiomyopatie · TTR-vázaná kardiální amyloidóza · Transthyretin amyloidní kardiopatie · Transthyretin-vázaná familiární amyloidní kardiomyopatie |
| uk | Амілоїдоз ATTRV122I | Амілоїдоз, повязаний з ATTRV122I |
| zh | V122I突变型转甲状腺素蛋白型淀粉样变性 | 转甲状腺素蛋白相关性家族淀粉样变性心肌病 |
| tr | ATTRV122I amiloidoz | ATTR kardiyomiyopati · ATTRV122I-ilişkili amiloidoz · TTR-ilişkili kardiyak amiloidoz · Transtiretin amiloid kardiyopati · TTR-ilişkili amiloid kardiyomiyopati · Transtiretin-ilişkili ailesel amiloid kardiyomiyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105210 | NTBT | validated | |
| ICD-10 | E85.4 | NTBT | attributed | validated |
| ICD-11 | 5D00.20 | NTBT | index | validated |
| MONDO | 0019441 | E | validated | |
| UMLS | C4275067 | 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 (2):
- ORPHA:271861Hereditary ATTR amyloidosis
rare cardiac diseases; rare genetic diseases; rare ophthalmic disorders; rare systemic and rheumatological diseases; rare transplant-related disorders - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTR | Disease-causing germline mutation(s) in | Assessed | HGNC:12405 | ENSG00000118271 | 176300 | 18q12.1 | transthyretin | 11752443[PMID]_25551524[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
25 annotations · validated 2021-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0001692 | Atrial arrhythmia | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0031185 | Increased circulating NT-proBNP concentration | |
| HP:0410174 | Increased circulating troponin T concentration | |
| Frequent (79-30%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0011675 | Arrhythmia | |
| HP:0001640 | Cardiomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0001723 | Restrictive cardiomyopathy | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0025028 | Abnormality of enteric nervous system morphology | |
| HP:0001903 | Anemia | |
| HP:0001681 | Angina pectoris | |
| HP:0001635 | Congestive heart failure | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0001297 | Stroke | |
| HP:0100550 | Tendon rupture | |
| HP:0001907 | Thromboembolism | |
| Very rare (<4-1%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001271 | Polyneuropathy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31171094[PMID]_20301373[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85451
- This record as JSON: /data/d/85451.json