Gaucher Disease: Causes & Reasons

Possible Causes for Gaucher Disease

The osteonecrosis was idiopathic in 6 shoulders, was a result of corticotherapy in 10, occurred after radiation in 2, and occurred after Gaucher's disease in 1. [ncbi.nlm.nih.gov]

HIV or taking HIV drugs Radiation therapy Gaucher disease (disease in which harmful substance build up in the certain organs and the bone) Systemic lupus erythematosus (an [nlm.nih.gov]

Gaucher disease, and systemic lupus erythematosus. [medicinenet.com]

Gaucher Disease Type 2

Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). [ncbi.nlm.nih.gov]

Gaucher Disease Type 2 Gaucher disease type 2 (also called acute infantile neuronopathic Gaucher disease) has the earliest onset of all Gaucher disease types. [gaucherdisease.org]

Type 3 Gaucher's disease Presents in infancy or childhood. [patient.info]

Hypersplenism

Other disorders: Gaucher's disease. Niemann-Pick disease. Histiocytosis X. Amyloidosis. Causes of massive splenomegaly Chronic myeloid leukaemia. [patient.info]

[…] lymphohistiocytosis/familial erythrophagocytic lymphohistiocytosis • Adult • Chronic myeloid leukemia • Myelofibrosis, idiopathic or post-polycythemic • Gaucher disease • [cram.com]

Inherited diseases: Gaucher's disease and other storage disorders. Hypersplenism This is a pancytopenia occurring in patients with an enlarged spleen. [patient.info]

Splenic Infarction

Other causes of splenomegaly (for example, Gaucher disease or hemoglobinopathies) can also predispose to infarction. [en.wikipedia.org]

These diseases include chronic myelogenous leukemia, myelofibrosis, Gaucher disease, Malarial splenomegaly syndrome, AIDS with mycobacterium avium complex, Lymphoma. [ncbi.nlm.nih.gov]

drugs (cocaine, erythropoietin…), and other miscellaneous causes (Gaucher disease, pancreatitis…). [em-consulte.com]

Thrombocytopenia

[…] in storage disorders (like Gaucher's disease ). [healthcentral.com]

[…] in storage disorders (like Gaucher's disease). [healthcentral.com]

disease Platelets become diluted Massive red blood cell replacement or exchange transfusion; stored red blood cells do not contain very many platelets Use or destruction [msdmanuals.com]

Neuronal Ceroid Lipofuscinosis

[…] syndrome and late manifesting forms of several other lysosomal storage disorders (GM2 gangliosidosis, Gaucher disease and Niemann-Pick type C disease; see these terms). [orpha.net]

Aerts, From gene to disease: Gaucher disease, Ned. Tijdschr. Geneeskd. 149 (2005) The prevalent phenotype is the non-neuronopathic type I Gaucher disease. [healthdocbox.com]

Gaucher disease type I accounts for more than 90% of cases of Gaucher disease ( 40, 41 ). [ncbi.nlm.nih.gov]

Anemia

Pancytopenia may be caused by intrinsic [bone marrow aplasia, leukemia, myelodysplastic syndrome (MDS) or myelofibrosis] or extrinsic (metastasis, Gaucher disease and other [dx.doi.org]

disease) Inflammatory chronic diseases, microorganisms (Histoplasma, HIV) Drugs, hypothyroidism, uremia Erythropoietic factors deficiency Iron IDA ACD Cobalamin and folate [dx.doi.org]

Inherited: hereditary dyserythropoiesis Acquired: myelodysplasia Bone marrow infiltration Leukemia, lymphoma, multiple myeloma Solid tumors Myelofibrosis Thesaurismosis (Gaucher [dx.doi.org]

Secondary Myelofibrosis

’s disease Hematological malignancies – chronic myeloid leukemia, multiple myeloma, lymphomas Radiation, radiomimetic drugs Others – Sarcoidosis, congenital osteopetrosis [pgblazer.com]

[…] myelofibrosis: Neoplastic – infiltration by cancer cells (primary is usually located in breast, lung or prostate) Infective – tuberculosis, fungal infections, HIV Metabolic – Gaucher [pgblazer.com]

Progressive Myoclonic Epilepsy Type 3

[…] diagno-sis of type 3 Gaucher’s disease. [jkna.org]

Blood analysis revealed reduced beta-glucosidase enzyme activity, consistent with a Gaucher disease type 3 diagnosis. [gaucherdiseasenews.com]

Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease. Neurology 2001; 56: 391–394. PubMed Google Scholar 43. [link.springer.com]

Progressive Myoclonic Epilepsy Type 7

[…] diagno-sis of type 3 Gaucher’s disease. [jkna.org]

Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course. [thieme-connect.com]

Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci. 2003;358:961. [ncbi.nlm.nih.gov]

Osteomyelitis

Definition (NCI) An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. Definition (NCI_NCI-GLOSS) Inflammation of the bone caused by an infection, which may spread to the bone marrow and tissues near the bone. Osteomyelitis can cause severe pain in the infected[…] [fpnotebook.com]

Avascular Necrosis

Other causes are anemia, Gaucher disease, increase bone marrow pressure, impaired arterial supply, obstruction of venous drainage, vasculitis, intermedullary hemorrhage and [baromedical.ca]

The osteonecrosis was idiopathic in 6 shoulders, was a result of corticotherapy in 10, occurred after radiation in 2, and occurred after Gaucher's disease in 1. [ncbi.nlm.nih.gov]

lymphoma) Dysbaric Disorders (decompression sickness, "the bends") Marrow-replacing Diseases (Gaucher's Disease) Sickle Cell Disease Avascular necrosis has also been linked [paleyinstitute.org]

Encephalopathy

Posterior reversible encephalopathy syndrome is an encephalopathy that can be clinically characterized by headache, altered mental status and/or seizures. Neuroimaging demonstrates usually reversible bilateral subcortical vasogenic occipital-parietal edema. Exact pathophysiology remains unclear but is commonly[…] [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 8

[…] diagno-sis of type 3 Gaucher’s disease. [jkna.org]

Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease. Neurology 2001; 56: 391–394. PubMed Google Scholar 43. [link.springer.com]

(DRPLA), and type III Gaucher disease. [genome.jp]

Gaucher Disease

Gaucher's disease Acid beta-glucosidase Specialty Endocrinology Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid [en.wikipedia.org]

Overview What is Gaucher's disease? Gaucher disease was first described by Dr. Phillippe Gaucher in 1882. [thinkgenetic.com]

Gaucher disease, Type I; Online Mendelian Inheritance in Man (OMIM) Gaucher disease, Type II; Online Mendelian Inheritance in Man (OMIM) Gaucher disease, Type III; Online [patient.info]

Spleen Disease

[…] the signs and symptoms of Gaucher disease. [cerezyme.com]

What Causes Gaucher Disease? [gaucherdisease.org]

Symptoms and Signs of Gaucher Disease Blood and organ symptoms and signs Gaucher disease symptoms and signs involving the blood and organs include: Spleen and liver enlargement [gaucherdisease.org]

Avascular Necrosis of Genetic Origin

Causes of avascular necrosis can include long-term steroid use, sickle cell disease, Gaucher disease, gout or diabetes. [bonesmart.org]

including rheumatoid arthritis, Gaucher’s disease, chronic pancreatitis, Crohn’s disease or lupus. 3 What are the symptoms of ON? [orthosportsmed.com]

Risk factors are many, such as hip trauma, alcohol abuse, excessive use of corticosteroids, hemoglobinopathy, Gaucher’s disease, pregnancy, coagulopathies, Caisson disease [link.springer.com]

Fabry Disease

Race All forms of Gaucher disease are panethnic. [emedicine.medscape.com]

[…] in Gaucher disease [ 103 ]. [ncbi.nlm.nih.gov]

Gaucher disease is the most prevalent LSD. Gaucher disease has classically been categorized into 3 clinical types. [fiercebiotech.com]

Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

Gaucher disease (GD) is the most common lysosomal storage disease in humans. [radiopaedia.org]

East T and Savin LH : Acase of Gaucher' s disease with biopsy of the typical pingueculae. Br J Ophthalmol 1940, 24 : 611–3. 9. [nature.com]

Age of presentation depends on the type of Gaucher disease: type I (most common form) age of presentation varies widely, with the mean age of diagnosis being 21 years of age [radiopaedia.org]

Perinatal Lethal Gaucher Disease

Skip to content Gaucher disease—perinatal lethal Joe Segen 2016-11-25T21:18:39+00:00 METABOLISM Definition A distinct form of Gaucher disease type 2* (OMIM:608013) characterised [newmedicalterms.com]

Beutler E and Grabowski GA (1995) Gaucher disease. [els.net]

Fetal Gaucher Disease is the perinatal lethal form of Gaucher disease. [medicbind.com]

Niemann-Pick Disease

Given the similarity of the storage cells in NPD and Gaucher disease, we studied Gaucher plasma markers (chitotriosidase and CCL18) in two siblings homozygous for the R228C [ncbi.nlm.nih.gov]

Fabrys disease Fabry's disease Ganglioside sialidase deficiency Gaucher disease Gauchers disease Gaucher's disease Glucosylceramide beta-glucosidase deficiency (disorder) [icd9data.com]

as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7) 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia [genedx.com]

Cholesterol Ester Storage Disease

being absent in Niemann-Pick type C, Gaucher disease, and GM1 gangliosidosis type 2. [ashpublications.org]

Gaucher disease ( GBA mutations): overlapping clinical features of lysosomal acid lipase deficiency and Gaucher disease are hepatosplenomegaly and thrombocytopenia. [bredagenetics.com]

Lymphocyte vacuolation may be acquired but is a useful morphological feature to refine the differential diagnosis of abnormal storage cells associated with neurovisceral disease [ashpublications.org]

Niemann-Pick Disease Type B

After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher’s disease. [embryo.asu.edu]

The diagnosis was confirmed by the markedly decreased acid sphingomyelinase activity, whereas the acid β-glucosidase activity was normal, excluding type 1 Gaucher disease. [imagebank.hematology.org]

Carcinomatous Polyarthritis

’s disease Osteonecrosis Fungal arthritis Osteoporosis Gaucher’s disease Overlap syndrome Giant cell arteritis Pachydermoperiostosis Paget’s disease of bone Gonococcal arthritis [erheumatoidarthritissymptoms.com]

Fungal arthritis Gaucher’s disease Giant cell arteritis Gonococcal arthritis Goodpasture’s syndrome Gout Granulomatous arteritis Haemochromatosis Hemarthrosis Hemochromatosis [buyprovailencheap.org]

Gaucher's disease Giant cell arteritis Gonococcal arthritis Goodpasture's syndrome Gout Granulomatous arteritis Hemarthrosis Hemochromatosis Henoch-Schonlein purpura Hepatitis [americanimagingpr.com]

Niemann-Pick Disease Type C

This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gaucher's disease type 3. [ncbi.nlm.nih.gov]

disease (GD). [ncbi.nlm.nih.gov]

Adult Krabbe Disease

disease Glycogen storage disease Goldenhar syndrome (hemifacial microsomia) Gorlin syndrome (basal cell carcinoma, nevi) Hallermann Streiff syndrome Hearing problems Heart [kumc.edu]

Increased plasma activity, which is at least 100-fold elevated compared to controls, is observed in Gaucher disease (Hollak et al. 1994 ), whereas more modest increases have [ncbi.nlm.nih.gov]

ゴーシェ Gaucher's disease ゴーシェ病 Geiger-Muller ガイガー・ミューラー Geiger-Muller counter ガイガー・ミューラー計数管 Gerhardt ゲルハート Gerhardt's syndrome ゲルハート症候群 Carl JakobAdolf Christian Gerhardt （ [jams.med.or.jp]

Glycogen Storage Disease Type 13

disease 1.0 P * 355 Gaucher disease 1.3 BP 355 Gaucher disease 1.7 I * 77259 Gaucher disease type 1 1.0 P * 77260 Gaucher disease type 2 0.01 P * 77261 Gaucher disease type [azkurs.org]

[…] that are treated in this facility: Alpha-mannosidosis Argininemia Beta-mannosidosis Citrullinemia Fabry disease GM1 gangliosidosis GM2 gangliosidosis Galactosemia Gaucher [se-atlas.de]

disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease, subacute neuronopathic type Gaucher disease type 1 Gaucher disease type 2 Gaucher [orpha.net]

Disorder of Lipid Metabolism

Type 2 Gaucher’s disease usually causes death in the first year of life. [xpertdox.com]

Gaucher disease type 3 is more common in the Norrbottnian region of Sweden (1 in 50,000). [emedicine.medscape.com]

[…] the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/ [patientwing.com]

Glycogen Storage Disease Type 1C

In Gaucher disease, the effect of treatment on pulmonary disease depends on the case series and the type of Gaucher disease. [err.ersjournals.com]

www.gaucherdisease.org.uk Gaucher Disease, Type II Glucocerebrosidase AR infancy severe www.gaucherdisease.org, www.gaucherdisease.org.uk Gaucher Disease, Type III Glucocerebrosidase [ntsad.org]

disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Generalized galactose epimerase [se-atlas.de]

Cogan Syndrome

Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease. [ncbi.nlm.nih.gov]

We report a 10-month-old male infant with Type 2 Gaucher's disease. [ncbi.nlm.nih.gov]

disease ( 203800 ). [disorders.eyes.arizona.edu]