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mucopolysaccharidosis type 2

Disease Summary
Associated Targets (4)
Tclin

3

Tbio

1


GARD Rare
Mondo Description Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Uniprot Description An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation.
Disease Ontology Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Mondo Term and Equivalent IDs
MONDO:0010674:  mucopolysaccharidosis type 2
GARD:0006675: 
ICD10:E76.1: 
MESH:D016532: 
NCIT:C61260: 
Orphanet:580: 
SCTID:70737009: 
UMLS:C0026705: