Alpha-mannosidosis

rare

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.

Identifiers: MONDO:0009561 OMIM:248500 Orphanet:61
Causal genes: MAN2B1
Part of: Eye disorder Lysosomal storage disease with skeletal involvement Oligosaccharidosis
Also known as: Alpha mannosidase B deficiency · lysosomal alpha-D-mannosidase deficiency · mannosidosis, alpha B lysosomal · mannosidosis, ALPHA B, lysosomal · mannosidosis, alpha-, types I and II

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Alpha-mannosidosis type 1	MONDO:0022424
Alpha-mannosidosis, adult form	MONDO:0017733
Alpha-mannosidosis, infantile form	MONDO:0017732

Rare disease

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