Gamuts

Mannosidosis

Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. [Source: Wikipedia ]

Subtypes
Alpha-mannosidosis
Beta-mannosidosis
May Cause
Anterior beaked vertebral body
Aortic valve disease
Cardiac valve thickening
Cataract
Congenital hepatomegaly
Congenital hydrocephalus
Congenital splenomegaly
Congenitally abnormal scapula
Corneal abnormality
Cortical bone thickening
Coxa valga
Deafness
Eyelid ptosis
Hepatosplenomegaly in a neonate
Hydrocephalus
Immune disorder
Mitral valve disease
Shallow glenoid fossa
Thick clavicle
Thick ribs
Thick skull
Thick tubular hand bones
Widespread cortical bone thinning
Subtypes
Alpha-mannosidosis
Beta-mannosidosis
May Cause
Anterior beaked vertebral body
Aortic valve disease
Cardiac valve thickening
Cataract
Congenital hepatomegaly
Congenital hydrocephalus
Congenital splenomegaly
Congenitally abnormal scapula
Corneal abnormality
Cortical bone thickening
Coxa valga
Deafness
Eyelid ptosis
Hepatosplenomegaly in a neonate
Hydrocephalus
Immune disorder
Mitral valve disease
Shallow glenoid fossa
Thick clavicle
Thick ribs
Thick skull
Thick tubular hand bones
Widespread cortical bone thinning


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