INT241797

Context Info Confidence 0.24 First Reported 2008 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 10 Total Number 11 Disease Relevance 9.75 Pain Relevance 0.69

extracellular space (CHIT1) extracellular region (CHIT1) carbohydrate metabolic process (CHIT1) lysosome (CHIT1)

Anatomy Link Frequency liver 2 spleen 2 lung 2 leukocyte 1 brain 1 CHIT1 (Homo sapiens)

Pain Link Frequency Relevance Heat Inflammation 40 84.68 cytokine 26 81.92 peripheral neuropathy 27 80.36 Pain 30 52.48 antagonist 3 30.64 Inflammatory response 4 8.96 Central nervous system 21 5.00 Inflammatory stimuli 8 5.00 imagery 8 5.00 tolerance 6 5.00

Disease Link Frequency Relevance Heat Mycobacterial Infection 3 99.86 Disease Progression 8 99.74 Sarcoidosis 3 99.36 Pulmonary Disease 3 98.94 Infection 42 98.62 Gauchers Disease 388 98.60 Splenomegaly 16 97.52 Interstitial Lung Diseases 3 97.36 Hepatomegaly 10 95.92 Neurologic Manifestations 22 94.84

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Anatomy

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Speculation

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During ERT, clinical abnormality rates decreased (except for neurological involvement) and the biological data improved overall during ERT (increased hemoglobin, leukocyte and platelet levels; decreased chitotriosidase, ACE, TRAP, ferritin and gammaglobulin levels).

Gene_expression (levels) of chitotriosidase in platelet

1) Confidence 0.24 Published 2010 Journal Arthritis Res Ther Section Body Doc Link PMC2945057 Disease Relevance 0.28 Pain Relevance 0

Choi et al. have shown in a study in South India that patients are more susceptible to W. bancrofti infection if they are homozygous for the allele that is responsible for lower levels of chitotriosidase (CHIT1), a protein found in phagocytic cells (73).

Gene_expression (levels) of CHIT1 associated with infection

2) Confidence 0.23 Published 2009 Journal Parasite Immunology Section Body Doc Link PMC2784903 Disease Relevance 1.43 Pain Relevance 0

Choi et al. have shown in a study in South India that patients are more susceptible to W. bancrofti infection if they are homozygous for the allele that is responsible for lower levels of chitotriosidase (CHIT1), a protein found in phagocytic cells (73).

Gene_expression (levels) of chitotriosidase associated with infection

3) Confidence 0.23 Published 2009 Journal Parasite Immunology Section Body Doc Link PMC2784903 Disease Relevance 1.43 Pain Relevance 0

After a total of 12 months’ treatment, spleen and liver volumes, and chitotriosidase levels decreased by only 10%, 6%, and 15%, respectively (Table 1).

Gene_expression (levels) of chitotriosidase in liver

4) Confidence 0.15 Published 2008 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2504062 Disease Relevance 0.38 Pain Relevance 0.03

It is essential to monitor the disease progression by checking levels of hemoglobin, platelets, chitotriosidase every 3–6 months and liver and spleen volumes and bone studies including dual energy X-ray absorptiometry (DXA) scan and bone MRI once a year.

Gene_expression (levels) of chitotriosidase in spleen associated with disease progression

5) Confidence 0.12 Published 2008 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2504062 Disease Relevance 0.89 Pain Relevance 0.09

While chitotriosidase is one of the established biomarkers for GD, it has been recently used as an indicator in alveolar lung diseases, such as sarcoidosis and miliary tuberculosis.93,94 Chitotriosidase levels are shown to be significantly higher in patients with idiopathic interstitial lung disease.95

Gene_expression (levels) of Chitotriosidase in lung associated with mycobacterial infection, interstitial lung diseases, pulmonary disease, sarcoidosis and gauchers disease

6) Confidence 0.09 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 1.53 Pain Relevance 0.21

Unlike recombinant enzymes, SRT agents are small molecules that can cross the blood-brain barrier.59 Although improved pulmonary function, and a significant decrease in chitotriosidase levels have been observed in patients with GD type 3, miglustat unfortunately, does not appear to have any significant benefits on the neurological manifestations of GD.60

Gene_expression (levels) of chitotriosidase in brain associated with gauchers disease and neurologic manifestations

7) Confidence 0.09 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 0.75 Pain Relevance 0.04

During ERT, clinical abnormality rates decreased (except for neurological involvement) and the biological data improved overall during ERT (increased hemoglobin, leukocyte and platelet levels; decreased chitotriosidase, ACE, TRAP, ferritin and gammaglobulin levels).

Gene_expression (levels) of chitotriosidase in leukocyte

8) Confidence 0.08 Published 2010 Journal Arthritis Res Ther Section Body Doc Link PMC2945057 Disease Relevance 0.28 Pain Relevance 0

While chitotriosidase is one of the established biomarkers for GD, it has been recently used as an indicator in alveolar lung diseases, such as sarcoidosis and miliary tuberculosis.93,94 Chitotriosidase levels are shown to be significantly higher in patients with idiopathic interstitial lung disease.95

Gene_expression (one) of chitotriosidase in lung associated with mycobacterial infection, interstitial lung diseases, pulmonary disease, sarcoidosis and gauchers disease

9) Confidence 0.08 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 1.51 Pain Relevance 0.20

After a total of 12 months’ treatment, spleen and liver volumes, and chitotriosidase levels decreased by only 10%, 6%, and 15%, respectively (Table 1).

Gene_expression (levels) of chitotriosidase in spleen

10) Confidence 0.05 Published 2008 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2504062 Disease Relevance 0.38 Pain Relevance 0.03

It is essential to monitor the disease progression by checking levels of hemoglobin, platelets, chitotriosidase every 3–6 months and liver and spleen volumes and bone studies including dual energy X-ray absorptiometry (DXA) scan and bone MRI once a year.

Gene_expression (levels) of chitotriosidase in liver associated with disease progression

11) Confidence 0.04 Published 2008 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2504062 Disease Relevance 0.89 Pain Relevance 0.09

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