ATTRV122I amyloidosis
Findings
No curated finding names ATTRV122I amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
Definition from the Mondo Disease Ontology (MONDO:0019441), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal EKGHPOHP:0003115
- Very frequent (80% to 99% of cases)
- Atrial arrhythmiaHPOHP:0001692
- Very frequent (80% to 99% of cases)
- Cardiac amyloidosisHPOHP:0030843
- Very frequent (80% to 99% of cases)
- Elevated circulating NT-proBNP concentrationHPOHP:0031185
- Very frequent (80% to 99% of cases)
- Increased circulating troponin T concentrationHPOHP:0410174
- Very frequent (80% to 99% of cases)
- Abnormal atrioventricular conductionHPOHP:0005150
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Frequent (30% to 79% of cases)
- Reduced left ventricular ejection fractionHPOHP:0012664
- Frequent (30% to 79% of cases)
- Restrictive cardiomyopathyHPOHP:0001723
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Occasional (5% to 29% of cases)
Show the remaining 13
- Abnormal enteric nervous system morphologyHPOHP:0025028
- Occasional (5% to 29% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Angina pectorisHPOHP:0001681
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Constrictive median neuropathyHPOHP:0012185
- Occasional (5% to 29% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTRHGNC:12405
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: ATTRV122I amyloidosis
- Also called
- ATTRV122I-related amyloidosis