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

Summary

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 (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

26 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

Help
  • Aggressive behavior
  • Intellectual disability
  • Tortuosity of conjunctival vessels
  • Cognitive impairment
  • Recurrent respiratory infections
  • Seizure
  • Hearing impairment
  • Hyperactivity
  • Angiokeratoma
  • Muscular hypotonia
  • Abnormality of metabolism/homeostasis
  • Abnormal facial shape
  • Neurological speech impairment
  • Demyelinating peripheral neuropathy
  • Aplasia/Hypoplasia of the abdominal wall musculature
  • Increased urinary disaccharide excretion
Show all (16)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk