Mannosidosis, Beta A, Lysosomal

Alternative Names

  • MANSB
  • Beta-Mannosidosis
  • Lysosomal Beta-Mannosidase Deficiency
  • Beta-Mannosidase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

248510

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q24

Description

Beta-mannosidosis 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. The disorder was first described in goats, who have a more severe neurodegenerative disorder than that seen in humans. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
248510.1United Arab EmiratesMaleYesYes Global developmental delay; Failure to t...NM_005908.3:c.545G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected sibling
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