Gaucher Disease [Gaucherova nemoc]

topical
83
Terms

adultní typ Gaucherovy nemoci
adultní, viscerální, chronický typ I Gaucherovy nemoci
akutní neuronopatická Gaucherova nemoc
akutní neuronopatický typ II Gaucherovy nemoci
chronická neuronopatická Gaucherova nemoc
chronický typ Gaucherovy nemoci
Gaucherova choroba
Gaucherova nemoc adultní typ
Gaucherova nemoc chronický typ
Gaucherova nemoc typu 1
Gaucherova nemoc viscerální typ
Gaucherova nemoc, typ 1
Gaucherova nemoc, typ 2
Gaucherova nemoc, typ 3
infantilní Gaucherova nemoc
juvenilní Gaucherova nemoc
juvenilní typ Gaucherovy nemoci
morbus Gaucher viscerální typ I
non-neuronopatická Gaucherova nemoc
raná forma Gaucherovy nemoci
subakutní neuronopatický typ III Gaucherovy choroby
subakutní neuropatická forma Gaucherovy choroby
subakutní neuropatická forma Gaucherovy nemoci
subakutní neuropatická Gaucherova nemoc
viscerální forma Gaucherovy nemoci

 

Acid beta-Glucosidase Deficiency
Acid beta-Glucosidase Deficiency Disease
Acute Neuronopathic Gaucher Disease
Cerebroside Lipidosis Syndrome
Chronic Gaucher Disease
Gaucher Disease Type 1
Gaucher Disease Type 2
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
GBA Deficiency
Glucocerebrosidase Deficiency
Glucocerebrosidase Deficiency Disease
Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis
Glucosylceramidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency Disease
Glucosylceramide Lipidosis
Infantile Gaucher Disease
Kerasin Histiocytosis
Kerasin Lipoidosis
Kerasin thesaurismosis
Lipoid Histiocytosis (Kerasin Type)
Neuronopathic Gaucher Disease
Non-Neuronopathic Gaucher Disease
Subacute Neuronopathic Gaucher Disease
Type 1 Gaucher Disease
Type 2 Gaucher Disease
Type 3 Gaucher Disease

Persistent link   https://www.medvik.cz/link/D005776
Definition

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.

DUI
D005776 MeSH Browser
CUI
M0009048
History note
2000(1966)
Public note
2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999

C Diseases
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.200 Fabry Disease 187
C10.228.140.163.100.435.825.250 Farber Lipogranulomatosis 5
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.400 Gaucher Disease 83
C10.228.140.163.100.435.825.590 Leukodystrophy, Globoid Cell 16
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C10.228.140.163.100.435.825.850 Sulfatidosis 1
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.200 Fabry Disease 187
C16.320.565.189.435.825.250 Farber Lipogranulomatosis 5
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.400 Gaucher Disease 83
C16.320.565.189.435.825.590 Leukodystrophy, Globoid Cell 16
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.189.435.825.850 Sulfatidosis 1
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.300 Fabry Disease 187
C16.320.565.398.641.803.325 Farber Lipogranulomatosis 5
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.441 Gaucher Disease 83
C16.320.565.398.641.803.585 Leukodystrophy, Globoid Cell 16
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
C16.320.565.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C16.320.565.398.641.803.925 Sulfatidosis 1
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.200 Fabry Disease 187
C16.320.565.595.554.825.250 Farber Lipogranulomatosis 5
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.400 Gaucher Disease 83
C16.320.565.595.554.825.590 Leukodystrophy, Globoid Cell 16
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.595.554.825.850 Sulfatidosis 1
C18.452 Metabolic Diseases 1 196
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.200 Fabry Disease 187
C18.452.132.100.435.825.250 Farber Lipogranulomatosis 5
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.400 Gaucher Disease 83
C18.452.132.100.435.825.590 Leukodystrophy, Globoid Cell 16
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.132.100.435.825.850 Sulfatidosis 1
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.300 Fabry Disease 187
C18.452.584.563.641.803.325 Farber Lipogranulomatosis 5
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.441 Gaucher Disease 83
C18.452.584.563.641.803.585 Leukodystrophy, Globoid Cell 16
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.584.563.641.803.925 Sulfatidosis 1
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.200 Fabry Disease 187
C18.452.648.189.435.825.250 Farber Lipogranulomatosis 5
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.400 Gaucher Disease 83
C18.452.648.189.435.825.590 Leukodystrophy, Globoid Cell 16
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.189.435.825.850 Sulfatidosis 1
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.300 Fabry Disease 187
C18.452.648.398.641.803.325 Farber Lipogranulomatosis 5
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.441 Gaucher Disease 83
C18.452.648.398.641.803.585 Leukodystrophy, Globoid Cell 16
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
C18.452.648.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.648.398.641.803.925 Sulfatidosis 1
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.200 Fabry Disease 187
C18.452.648.595.554.825.250 Farber Lipogranulomatosis 5
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.400 Gaucher Disease 83
C18.452.648.595.554.825.590 Leukodystrophy, Globoid Cell 16
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.595.554.825.850 Sulfatidosis 1

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