congenital nervous system disorder qualitative or quantitative defects of alphaB-cristallin myofibrillar myopathy alpha-crystallinopathy Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. Orphanet:98910 α-B-Crystallin (CryAB, gene map locus: 11q22.3-q23.1) is a member of the small heat shock protein (HSP) family, a group of proteins that prevent protein aggregation upon exposure of a cell to heat and/or restore the biological activity of cell substrates. The missense mutation and the deletion mutation of CryAB can cause various forms of muscular disorder, including restrictive, hypertrophic, and dilated cardiomyopathies, heart failure, and skeletal muscle weakness. Collectively, these diseases constitute a rare autosomal-dominant inherited disorder called α-crystallinopathy (crystallinopathy), also known as desmin-related cardiomyopathy. CRYAB-related myofobrillar myopathy desmin-related cardiomyopathy