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:439254
ITM2B amyloidosis
OrphanetORPHA:439254
Treatments0 drug(s)
Symptoms on record8 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO