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 represents a spectrum or continuum of disease and is highly individualized. Some individuals develop symptoms shortly after birth and may develop potentially life-threatening complications in infancy or early childhood.
Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf
Oct 11, 2001 · The main clinical features in alpha-mannosidosis – intellectual disability, ataxia, coarse face, and dysostosis multiplex – may overlap with other lysosomal storage disorders (e.g., mucopolysaccharidosis type I and II).
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 - Boston Children's Hospital
Alpha-mannosidosis is a rare genetic condition characterized by an inability to properly break down certain groups of complex sugars in the body’s cells. The accumulation of sugars affects many of the body’s organs and systems, including the central nervous system.
alpha-mannosidosis - National Organization for Rare Disorders
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
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
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 …
Alpha-mannosidosis - PMC
Alpha-mannosidosis is a genetic disorder of metabolism characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder is caused by lysosomal α -mannosidase deficiency and …