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 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.825 Sphingolipidoses .
C10.228.140.163.100.435.825.400 Gaucher Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.825 Sphingolipidoses .
C16.320.565.189.435.825.400 Gaucher Disease .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.641 Lipidoses .
C16.320.565.398.641.803 Sphingolipidoses .
C16.320.565.398.641.803.441 Gaucher Disease .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.825 Sphingolipidoses .
C16.320.565.595.554.825.400 Gaucher Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.825 Sphingolipidoses .
C18.452.132.100.435.825.400 Gaucher Disease .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.687 Lipidoses .
C18.452.584.687.803 Sphingolipidoses .
C18.452.584.687.803.441 Gaucher Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.825 Sphingolipidoses .
C18.452.648.189.435.825.400 Gaucher Disease .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.641 Lipidoses .
C18.452.648.398.641.803 Sphingolipidoses .
C18.452.648.398.641.803.441 Gaucher Disease .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.825 Sphingolipidoses .
C18.452.648.595.554.825.400 Gaucher Disease .
D02 Organic Chemicals .
D02.065 Amides .
D02.065.313 Ceramides .
D02.065.313.250 Cerebrosides .
D02.065.313.250.490 Glucosylceramides .
D08 Enzymes and Coenzymes .
D08.211 Coenzymes .
D08.211.790 Sphingolipid Activator Proteins .
D08.211.790.500 Saposins .
D08.811 Enzymes .
D08.811.277 Hydrolases .
D08.811.277.450 Glycoside Hydrolases .
D08.811.277.450.420 Glucosidases .
D08.811.277.450.420.412 Glucosylceramidase .
D09 Carbohydrates .
D09.400 Glycoconjugates .
D09.400.410 Glycolipids .
D09.400.410.420 Glycosphingolipids .
D09.400.410.420.525 Neutral Glycosphingolipids .
D09.400.410.420.525.200 Ceramides .
D09.400.410.420.525.200.250 Cerebrosides .
D09.400.410.420.525.200.250.490 Glucosylceramides .
D10 Lipids .
D10.390 Glycolipids .
D10.390.470 Glycosphingolipids .
D10.390.470.675 Neutral Glycosphingolipids .
D10.390.470.675.200 Ceramides .
D10.390.470.675.200.250 Cerebrosides .
D10.390.470.675.200.250.490 Glucosylceramides .
D10.570 Membrane Lipids .
D10.570.877 Sphingolipids .
D10.570.877.360 Glycosphingolipids .
D10.570.877.360.612 Neutral Glycosphingolipids .
D10.570.877.360.612.200 Ceramides .
D10.570.877.360.612.200.250 Cerebrosides .
D10.570.877.360.612.200.250.490 Glucosylceramides .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Saposins .
Co-beta-Glucosidase .
Coglucosidase .
Gaucher Activator Protein .
Glucosylceramidase Activator .
SAP-1 Sphingolipid Activator .
SAP-A Protein .
SAP-C Protein .
SAP-D Protein .
Saposin A .
Saposin B .
Saposin C .
Saposin D .
Sphingolipid Activator Protein 1 .
Sphingolipid Activator Protein 2 .
Sphingolipid Activator Protein-1 .
Testibumin .
beta-Glucosidase Activator Protein .
beta-Glucosidase Stimulating Protein .
Co beta Glucosidase .
SAP 1 Sphingolipid Activator .
SAP A Protein .
SAP C Protein .
SAP D Protein .
Sphingolipid Activator, SAP-1 .
beta Glucosidase Activator Protein .
beta Glucosidase Stimulating Protein .
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin. .
1.00
0623
 
Glucosylceramidase .
Acid beta-Glucosidase .
Glucocerebroside beta-Glucosidase .
Glucosyl Ceramidase .
Glucosylceramide beta-Glucosidase .
Glucosylsphingosine Glucosyl Hydrolase .
beta-Glucocerebrosidase .
Acid beta Glucosidase .
Ceramidase, Glucosyl .
Glucocerebroside beta Glucosidase .
Glucosyl Hydrolase, Glucosylsphingosine .
Glucosylceramide beta Glucosidase .
Hydrolase, Glucosylsphingosine Glucosyl .
beta Glucocerebrosidase .
beta-Glucosidase, Acid .
beta-Glucosidase, Glucocerebroside .
beta-Glucosidase, Glucosylceramide .
Glucocerebrosidase .
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. .
0.83
162031
 
Glucosylceramides .
Ceramides, Glucosyl .
Glucocerebrosides .
Glucosyl Ceramides .
Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease. .
0.75
10810
 
Gaucher Disease .
Acid beta-Glucosidase Deficiency .
Acid beta-Glucosidase Deficiency Disease .
Acute Neuronopathic Gaucher Disease .
Chronic Gaucher Disease .
GBA Deficiency .
Gaucher Disease Type 3 .
Gaucher Disease, Acute Neuronopathic .
Gaucher Disease, Acute Neuronopathic Type .
Gaucher Disease, Chronic .
Gaucher Disease, Chronic Neuronopathic Type .
Gaucher Disease, Infantile .
Gaucher Disease, Infantile Cerebral .
Gaucher Disease, Juvenile .
Gaucher Disease, Juvenile and Adult, Cerebral .
Gaucher Disease, Neuronopathic .
Gaucher Disease, Non-Neuronopathic Form .
Gaucher Disease, Noncerebral Juvenile .
Gaucher Disease, Subacute Neuronopathic Form .
Gaucher Disease, Subacute Neuronopathic Type .
Gaucher Disease, Type 1 .
Gaucher Disease, Type 2 .
Gaucher Disease, Type 3 .
Gaucher Disease, Type I .
Gaucher Disease, Type II .
Gaucher Disease, Type III .
Gaucher Splenomegaly .
Gaucher Syndrome .
Gaucher's Disease .
Gauchers Disease .
Glucocerebrosidase Deficiency .
Glucocerebrosidosis .
Glucosyl Cerebroside Lipidosis .
Glucosylceramidase Deficiency .
Glucosylceramide Beta-Glucosidase Deficiency .
Glucosylceramide Lipidosis .
Infantile Gaucher Disease .
Kerasin Histiocytosis .
Kerasin Lipoidosis .
Kerasin thesaurismosis .
Lipoid Histiocytosis (Kerasin Type) .
Non-Neuronopathic Gaucher Disease .
Subacute Neuronopathic Gaucher Disease .
Type 1 Gaucher Disease .
Type 2 Gaucher Disease .
Type 3 Gaucher Disease .
Cerebroside Lipidoses, Glucosyl .
Cerebroside Lipidosis Syndromes .
Cerebroside Lipidosis, Glucosyl .
Deficiencies, GBA .
Deficiencies, Glucocerebrosidase .
Deficiency Disease, Glucocerebrosidase .
Deficiency Diseases, Glucocerebrosidase .
Deficiency, GBA .
Deficiency, Glucocerebrosidase .
Disease, Chronic Gaucher .
Disease, Gaucher .
Disease, Gaucher's .
Disease, Gauchers .
Disease, Glucocerebrosidase Deficiency .
Disease, Infantile Gaucher .
Disease, Juvenile Gaucher .
Disease, Neuronopathic Gaucher .
Disease, Non-Neuronopathic Gaucher .
Diseases, Gauchers .
Diseases, Glucocerebrosidase Deficiency .
GBA Deficiencies .
Gaucher Disease, Non Neuronopathic Form .
Gaucher Disease, Non-Neuronopathic .
Gauchers Diseases .
Glucocerebrosidase Deficiencies .
Glucocerebrosidase Deficiency Diseases .
Glucocerebrosidoses .
Glucosyl Cerebroside Lipidoses .
Glucosylceramide Lipidoses .
Histiocytoses, Kerasin .
Histiocytoses, Lipoid (Kerasin Type) .
Histiocytosis, Kerasin .
Histiocytosis, Lipoid (Kerasin Type) .
Juvenile Gaucher Disease .
Kerasin Histiocytoses .
Kerasin Lipoidoses .
Kerasin thesaurismoses .
Lipidoses, Glucosyl Cerebroside .
Lipidoses, Glucosylceramide .
Lipidosis Syndrome, Cerebroside .
Lipidosis Syndromes, Cerebroside .
Lipidosis, Glucosyl Cerebroside .
Lipidosis, Glucosylceramide .
Lipoid Histiocytoses (Kerasin Type) .
Lipoidoses, Kerasin .
Lipoidosis, Kerasin .
Non Neuronopathic Gaucher Disease .
Splenomegaly, Gaucher .
Syndrome, Cerebroside Lipidosis .
Syndrome, Gaucher .
Syndromes, Cerebroside Lipidosis .
thesaurismoses, Kerasin .
thesaurismosis, Kerasin .
Cerebroside Lipidosis Syndrome .
Glucocerebrosidase Deficiency Disease .
Glucosylceramide Beta-Glucosidase Deficiency Disease .
Neuronopathic Gaucher Disease .
Gaucher Disease Type 1 .
Gaucher Disease Type 2 .
GAUCHER'S DISEASE .
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. .
0.67
803964