A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

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Annotation Summary

Term Occurence Count Dictionary
obesity 1 endocrinologydiseases
osteoporosis 5 endocrinologydiseases
sphingolipidosis 1 endocrinologydiseases
Imiglucerase 1 endocrinologydiseasesdrugs
amyloidosis 1 endocrinologydiseases
eliglustat 4 endocrinologydiseasesdrugs
lysosomal storage disease 3 endocrinologydiseases
miglustat 3 endocrinologydiseasesdrugs

Graph of close proximity drug and disease terms (within 200 characters).

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Review

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Select Drug Character Offset Drug Term Instance
Imiglucerase 49627 mannose residues in order to allow their uptake by macrophage receptors and their transfer to lysosomes. Imiglucerase is produced using mammalian cells (Chinese Hamster Ovary cells); it obtained marketing authorization
eliglustat 4661 taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat ).1. IntroductionLysosomal storage diseases (LSDs) are a group of heterogeneous inherited diseases caused
eliglustat 18599 than those with small tumors. In this model, the monoclonal protein disappeared from mice treated with eliglustat ; moreover, a striking reduction in lymphoproliferation was observed, with no plasmocytoma or lymphoma
eliglustat 19535 and should be further studied in this context. Moreover, treating the above murine model of GD with eliglustat led to a reduction of clonal Ig. The glucosylsphingosine might mediate B-cell activation in GD and might
eliglustat 55722 symptoms in GD3, despite the fact that it crosses the blood–brain barrier.Another substrate inhibitor, eliglustat (Cerdelga®, Sanofi-Genzyme) was granted a marketing authorization in 2015. It is also an orally administered
miglustat 4648 or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used ( miglustat or eliglustat).1. IntroductionLysosomal storage diseases (LSDs) are a group of heterogeneous inherited
miglustat 55553 during pregnancy and contraceptive methods must be used by both male and female patients. To date, miglustat has not been found to have any effect on neurological symptoms in GD3, despite the fact that it crosses
miglustat 55912 is also an orally administered GlcCer synthase inhibitor, but is more specific and more potent than miglustat , because it is an analogue of the ceramide part. It was evaluated in phase-1, -2 and -3 clinical studies
Select Disease Character Offset Disease Term Instance
amyloidosis 28917 deposits) [[98],[100]], myocardial or valvular involvement [[101]], insulin resistance [[102]] and amyloidosis [[103],[104],[105]] are observed very rarely.Contrary to the conventional definition of GD1, certain
lysosomal storage disease 39899 centers. Increased chitotriosidase levels are also observed, but to a lesser extent, in certain other lysosomal storage disease s (e.g., Niemann–Pick diseases) and a variety of non-LSD disorders (sarcoidosis [[138]], β-thalassemia,
lysosomal storage disease 63097 outcome is always fatal for patients with type 2 GD.12. ConclusionsAlthough it is the most common of the lysosomal storage disease s, Gaucher disease remains rare and most cases present a gradual onset phenotype, which explains its
lysosomal storage disease 64338 glucosylceramide (GlcCer) by glucocerebrosidase (GCase) in the lysosome (A). GCase is activated by saposin C. In lysosomal storage disease s, an enzyme deficiency is responsible for the accumulation of its substrate in the cell lysosome (overload
obesity 40640 prognosis [[142],[143]]. Its levels are also increased in allergic reactions, insulin resistance and obesity . In GD patients, CCL18 plasma levels are 10–50 times higher than those of controls [[11],[144],[145]].
osteoporosis 26265 are defined as bone events [[72]].Moderate losses of bone mass (osteopenia) or more severe declines ( osteoporosis ) increase with age and menopause in normal subjects. Loss of bone mass occurs earlier and is more severe
osteoporosis 47811 knowledge gained from them and risk of radiation exposure.Bone densitometry is used to diagnose osteopenia/ osteoporosis , which is common in adults or children >5 years old, and to calculate lumbar spine and femoral bone
osteoporosis 47990 calculate lumbar spine and femoral bone mass. Osteopenia is defined as a T score between −1 and −2.5; osteoporosis is defined as a T score ≤ −2.5. The severity of osteopenia may be correlated with genotype, splenomegaly
osteoporosis 60377 osteoblast–osteoclast coupling disorder. Specific therapy remains the best treatment for GD-related osteopenia and osteoporosis . Bisphosphonates are nonetheless often indicated in cases of persistent osteoporosis, especially in
osteoporosis 60462 osteopenia and osteoporosis. Bisphosphonates are nonetheless often indicated in cases of persistent osteoporosis , especially in postmenopausal women. They are contraindicated during childbearing age [[198]].Orthopedic
sphingolipidosis 5453 [[1]].2. Definition of Gaucher DiseaseGaucher disease (GD, OMIM #230800, ORPHA355) is the most common sphingolipidosis . It was first described by Philippe Gaucher in 1882 in a patient with massive splenomegaly without leukemia.

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