Descriptors Found: 1
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Descriptor English:   Gaucher Disease 
Descriptor Spanish:   Enfermedad de Gaucher 
Descriptor Portuguese:   Doença de Gaucher 
Synonyms English:   Acid beta-Glucosidase Deficiency
Acid beta-Glucosidase Deficiency Disease
Acute Neuronopathic Gaucher Disease
Cerebroside Lipidoses, Glucosyl
Cerebroside Lipidosis Syndrome
Cerebroside Lipidosis Syndromes
Cerebroside Lipidosis, Glucosyl
Chronic Gaucher Disease
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
GBA Deficiency
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, Non-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
Gauchers Diseases
Glucocerebrosidase Deficiencies
Glucocerebrosidase Deficiency
Glucocerebrosidase Deficiency Disease
Glucocerebrosidase Deficiency Diseases
Glucosyl Cerebroside Lipidoses
Glucosyl Cerebroside Lipidosis
Glucosylceramidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency Disease
Glucosylceramide Lipidoses
Glucosylceramide Lipidosis
Histiocytoses, Kerasin
Histiocytoses, Lipoid (Kerasin Type)
Histiocytosis, Kerasin
Histiocytosis, Lipoid (Kerasin Type)
Infantile Gaucher Disease
Juvenile Gaucher Disease
Kerasin Histiocytoses
Kerasin Histiocytosis
Kerasin Lipoidoses
Kerasin Lipoidosis
Kerasin thesaurismoses
Kerasin thesaurismosis
Lipidoses, Glucosyl Cerebroside
Lipidoses, Glucosylceramide
Lipidosis Syndrome, Cerebroside
Lipidosis Syndromes, Cerebroside
Lipidosis, Glucosyl Cerebroside
Lipidosis, Glucosylceramide
Lipoid Histiocytoses (Kerasin Type)
Lipoid Histiocytosis (Kerasin Type)
Lipoidoses, Kerasin
Lipoidosis, Kerasin
Neuronopathic Gaucher Disease
Non Neuronopathic Gaucher Disease
Non-Neuronopathic Gaucher Disease
Splenomegaly, Gaucher
Subacute Neuronopathic Gaucher Disease
Syndrome, Cerebroside Lipidosis
Syndrome, Gaucher
Syndromes, Cerebroside Lipidosis
Type 1 Gaucher Disease
Type 2 Gaucher Disease
Type 3 Gaucher Disease
thesaurismoses, Kerasin
thesaurismosis, Kerasin  
Tree Number:   C10.
Definition English:   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. 
See Related English:   Glucosylceramidase
History Note English:   2000(1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   5916 
Unique Identifier:   D005776 

Occurrence in VHL: