Agent Commons Collaborative Research

Mucopolysaccharidosis

rare

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.

Identifiers
MONDO:0019249 Orphanet:79213
Part of
Developmental anomaly of metabolic originInborn carbohydrate metabolic disorderLysosomal storage diseaseMucopolysaccharidosis or mucopolysaccharidosis-like disorder
Also known as
MPS · Mucopolysaccharidoses

Subtypes

All diseases Rare only
Disease Subtypes
Mucopolysaccharidosis type 3 4
Mucopolysaccharidosis type 1 3
Mucopolysaccharidosis type 4 3
Mucopolysaccharidosis type 2 2
Mucopolysaccharidosis type 6 2
Mucopolysaccharidosis type 7
Mucopolysaccharidosis type 9
Mucopolysaccharidosis, type 10

Rare disease

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