Mannosidosis, Alpha B, Lysosomal (MANSA)

Alias:

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

Mannosidosis, Alpha-, Types I and Ii

Alpha-Mannosidase Deficiency

Alpha-D-Mannosidosis

Mansa

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis, Infantile Form

Alpha-Mannosidosis Types I and Ii

Mannosidase Deficiency Diseases

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Adult Form

Α-Mannosidosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mannosidosis, Alpha B, Lysosomal, also known as alpha-mannosidosis, is related to mannosidosis, beta a, lysosomal and dysostosis, and has symptoms including muscle spasticity and gait ataxia. An important gene associated with Mannosidosis, Alpha B, Lysosomal is MAN2B1 (Mannosidase Alpha Class 2B Member 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Sorbitol and Glycine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and macroglossia

Related ID：

MALACARDS：MNN047

OMIM：248500

MESH：D008363