Human Interaction Network Ontology

Last uploaded: June 27, 2014
Preferred Name

Mucopolysaccharidoses

Definitions

Authored: Jassal, B, 2012-04-26 Reviewed: Coutinho, Maria, 2012-08-27 Reviewed: Alves, Sandra, 2012-08-27 Edited: Jassal, B, 2012-04-26 Reviewed: Matos, Liliana, 2012-08-27 The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originally called mucopolysaccharides) (Neufeld & Muenzer in Scriver et al. 2001). Catabolism of the GAGs dermatan sulfate, heparan sulfate, heparin, keratan sulfate, chondroitin sulfate or hyaluronan may be blocked at one or more steps, resulting in lysosomal accumulation of GAG fragments of varying size. Over time these collect in the cells, blood and connective tissues ultimately resulting in progressive irreversible cellular damage which affects appearance, physical abilities, organ and system function, vision, and usually mental development (Lehman et al. 2011, Ashworth et al. 2006). Life expectancy is also reduced. There are 11 known enzyme deficiencies that give rise to 7 distinct MPS. These disorders are biochemically characterized by elevated levels of partially or undegraded GAGs in lysosomes, blood, urine and cerebro-spinal fluid (Muenzer 2011, Coutinho et al. 2012). The MPS are part of the lysosomal storage disease family, a group of about 50 genetic disorders caused by deficient lysosomal proteins (Ballabio & Gieselmann 2009). Reviewed: Ashworth, Jane, 2012-08-28

ID

http://purl.obolibrary.org/obo/HINO_0016280

comment

Authored: Jassal, B, 2012-04-26

Reviewed: Coutinho, Maria, 2012-08-27

Reviewed: Alves, Sandra, 2012-08-27

Edited: Jassal, B, 2012-04-26

Reviewed: Matos, Liliana, 2012-08-27

The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originally called mucopolysaccharides) (Neufeld & Muenzer in Scriver et al. 2001). Catabolism of the GAGs dermatan sulfate, heparan sulfate, heparin, keratan sulfate, chondroitin sulfate or hyaluronan may be blocked at one or more steps, resulting in lysosomal accumulation of GAG fragments of varying size. Over time these collect in the cells, blood and connective tissues ultimately resulting in progressive irreversible cellular damage which affects appearance, physical abilities, organ and system function, vision, and usually mental development (Lehman et al. 2011, Ashworth et al. 2006). Life expectancy is also reduced. There are 11 known enzyme deficiencies that give rise to 7 distinct MPS. These disorders are biochemically characterized by elevated levels of partially or undegraded GAGs in lysosomes, blood, urine and cerebro-spinal fluid (Muenzer 2011, Coutinho et al. 2012). The MPS are part of the lysosomal storage disease family, a group of about 50 genetic disorders caused by deficient lysosomal proteins (Ballabio & Gieselmann 2009).

Reviewed: Ashworth, Jane, 2012-08-28

definition source

Reactome, http://www.reactome.org

Pubmed19111581

Pubmed22013531

Pubmed16414358

Pubmed22210670

Pubmed22210669

ISBN0079130356

label

Mucopolysaccharidoses

located_in

http://purl.obolibrary.org/obo/NCBITaxon_9606

prefixIRI

HINO:0016280

prefLabel

Mucopolysaccharidoses

seeAlso

ReactomeREACT_147853

Reactome Database ID Release 432206281

has_part

http://purl.obolibrary.org/obo/HINO_0016270

http://purl.obolibrary.org/obo/HINO_0016271

http://purl.obolibrary.org/obo/HINO_0016268

http://purl.obolibrary.org/obo/HINO_0016266

http://purl.obolibrary.org/obo/HINO_0016267

http://purl.obolibrary.org/obo/HINO_0016272

http://purl.obolibrary.org/obo/HINO_0016273

http://purl.obolibrary.org/obo/HINO_0016254

http://purl.obolibrary.org/obo/HINO_0016265

http://purl.obolibrary.org/obo/HINO_0016269

http://purl.obolibrary.org/obo/HINO_0016274

subClassOf

http://purl.obolibrary.org/obo/INO_0000021

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