ITM2B amyloidosis
ORPHA: 439254
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ITM2B amyloidosis, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentCataractDementiaSpastic tetraparesisProgressive cerebellar ataxiaNeurofibrillary tanglesLeukoencephalopathyCerebral amyloid angiopathy
Classification & Codes
Orphanet Code
ORPHA:439254ITM2B amyloidosis
| Orphanet | ORPHA:439254 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO