ITM2B amyloidosis
MONDO:0018591Mondo
Findings
No curated finding names ITM2B amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
8 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.
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cerebral amyloid angiopathyHPOHP:0011970
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- LeukoencephalopathyHPOHP:0002352
- Frequent (30% to 79% of cases)
- Neurofibrillary tanglesHPOHP:0002185
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- Spastic tetraparesisHPOHP:0001285
- Frequent (30% to 79% of cases)
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: ITM2B amyloidosis
- Also called
- familial cerebral amyloid angiopathyITM2B-related amyloidosisITM2B-related cerebral amyloid angiopathy