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GTR Home > Conditions/Phenotypes > Beta-D-mannosidosis

Beta-D-mannosidosis

Synonyms
Beta-Mannosidosis; Beta-mannosidase deficiency; Lysosomal beta-mannosidase deficiency; Mannosidosis, beta A, lysosomal
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Beta-mannosidosis (MANSB) is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002). The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans. [from OMIM]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MANB1, MANBA
    Summary: mannosidase beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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