Agent Commons Collaborative Research

SQSTM1-related multisystem proteinopathy

rare

A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.

Identifiers
MONDO:0800464
Causal genes
SQSTM1
Part of
Inborn errors of metabolismProteostasis deficiencies

Subtypes

All diseases Rare only
Disease Subtypes
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Myopathy, distal, with rimmed vacuoles

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.