Search on: INFANTILE GAUCHER DISEASE 
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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
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  
Tree Number:   C10.228.140.163.100.435.825.400
C16.320.565.189.435.825.400
C16.320.565.398.641.803.441
C16.320.565.595.554.825.400
C18.452.132.100.435.825.400
C18.452.584.687.803.441
C18.452.648.189.435.825.400
C18.452.648.398.641.803.441
C18.452.648.595.554.825.400
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:
 

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