Alpha-mannosidosis - Wikipedia
Alpha-mannosidosis is a lysosomal storage disorder, [1] first described by Swedish physician Okerman in 1967. [2] 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.
Alpha-mannosidosis | About the Disease | GARD - Genetic and …
Alpha-mannosidosis is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Alpha-Mannosidosis - Symptoms, Causes, Treatment | NORD
Nov 27, 2023 · Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially ...
Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf
Oct 11, 2001 · Alpha-mannosidosis belongs to a group of disorders called glycoproteinoses, which are caused by lack of one of the many enzymes required for the sequential degradation of asparagine-linked oligosaccharides from glycoproteins in the lysosomes.
Alpha-mannosidosis: MedlinePlus Genetics
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities.
Alpha mannosidosis: disease information
Alpha Mannosidosis is a rare inherited disease that can cause children and adults to suffer from skeletal deformities, coarse facial features, hearing loss, cognitive disabilities, problems with the immune system (which may mean, for example, you catch infections more readily), mental health and behavioural issues. 1
Alpha-mannosidosis - PMC
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births.
Orphanet: Alpha-mannosidosis
Alpha-mannosidosis is inherited in an autosomal recessive fashion. Genetic counseling should be provided to explain the nature of the disease and to detect carriers. Management should be proactive, preventing complications and treating manifestations. Infections …
FDNA™ Alpha-mannosidosis syndrome: Symptoms, Causes, and …
Alpha-Mannosidosis syndrome is a rare genetic disorder that affects multiple organs and systems of the body. Common symptoms include skeletal abnormalities, characteristic facial features, and intellectual disability. Symptoms vary in severity from mild to severe.
Alpha-Mannosidosis - ISMRD
Alpha-Mannosidosis is caused by deficient activity of the enzyme alpha-D-mannosidase. Learn more about this disease and connect with others.
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