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SQSTM1-related multisystem proteinopathy

MONDO:0800464

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.

Also known as: SQSTM1-related multisystem proteinopathy

0 clinical trials for this condition and its sub-types, 0 tagged with SQSTM1-related multisystem proteinopathy itself.

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↑ Inborn errors of metabolism (2228) ↑ Proteostasis deficiencies (559)

Sub-types of SQSTM1-related multisystem proteinopathy

Paget disease of bone 3 0 trials
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 trials
Myopathy, distal, with rimmed vacuoles 0 trials

Including sub-types (0) Tagged with SQSTM1-related multisystem proteinopathy (0)

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