INT153233

Context Info Confidence 0.40 First Reported 2008 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 5 Total Number 6 Disease Relevance 2.10 Pain Relevance 0.12

lysosome (Ids)

Anatomy Link Frequency brain 2 urine 1 Ids (Mus musculus)

Pain Link Frequency Relevance Heat Central nervous system 114 62.40 Thalamus 18 61.12 cerebral cortex 4 60.32 Spinal cord 7 34.88 carpal tunnel syndrome 4 25.20 Antihistamine 12 5.00 corticosteroid 9 5.00 Neurobehavioral 8 5.00 intrathecal 6 5.00 cva 3 5.00

Disease Link Frequency Relevance Heat Lysosomal Storage Diseases 21 99.78 Mucopolysaccharidoses 22 98.62 Disease 98 98.16 Mucopolysaccharidosis Ii 15 97.78 Congenital Anomalies 8 93.20 Death 17 90.88 Targeted Disruption 6 85.68 Facies 1 79.76 Airway Obstruction 6 46.48 Apoptosis 8 44.72

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

MPS II is a heterogeneous, progressive lysosomal storage disease that results from deficiency of the enzyme, iduronate-2-sulfatase, which cleaves an O-linked sulfate from dermatan sulfate and heparan sulfate (Neufeld and Muenzer 2001).

Negative_regulation (deficiency) of iduronate-2-sulfatase associated with lysosomal storage diseases

1) Confidence 0.40 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2721351 Disease Relevance 0.75 Pain Relevance 0.06

Review of the use of idursulfase in the treatment of mucopolysaccharidosis II Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a heterogeneous, progressive X-linked recessively inherited lysosomal storage disease that is caused by a deficiency of the enzyme iduronate-2-sulfatase, resulting in abnormal tissue accumulation of the glycosaminoglycans, dermatan sulfate and heparan sulfate.

Negative_regulation (deficiency) of iduronate-2-sulfatase associated with mucopolysaccharidoses, mucopolysaccharidosis ii and lysosomal storage diseases

2) Confidence 0.40 Published 2008 Journal Biologics : Targets & Therapy Section Title Doc Link PMC2721351 Disease Relevance 0.39 Pain Relevance 0

Group A showed brain IDS activities that decreased in parallel with the concentrations of IDS injected.

Negative_regulation (decreased) of IDS in brain

3) Confidence 0.38 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2989894 Disease Relevance 0 Pain Relevance 0

These data show that the IDS activity remains in the brain and the tissues for a long time at sufficient levels to maintain the clearance of GAG accumulation.

Negative_regulation (remains) of IDS in brain

4) Confidence 0.37 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2989894 Disease Relevance 0 Pain Relevance 0.06

Affected mice exhibit many of the features observed in humans, including elevated urine glycosaminoglycan excretion, accumulation of glycosaminoglycans in tissues and organs, and deficient iduronate-2-sulfatase enzyme activity.

Negative_regulation (deficient) of iduronate-2-sulfatase in urine

5) Confidence 0.35 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2721351 Disease Relevance 0.42 Pain Relevance 0

Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase.

Negative_regulation (deficiency) of iduronate-2-sulfatase associated with mucopolysaccharidoses, lysosomal storage diseases and disease

6) Confidence 0.09 Published 2008 Journal J. Inherit. Metab. Dis. Section Abstract Doc Link 18618289 Disease Relevance 0.54 Pain Relevance 0

General Comments

This test has worked.