Gaucher 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.
推出的年份: 2000(1966)
树号: 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, C18.452.584.563.641.803.441, C18.452.648.189.435.825.400, C18.452.648.398.641.803.441, C18.452.648.595.554.825.400
MeSH 单一 ID: D005776
进入的组:
Disease, Gaucher
Glucocerebrosidase Deficiency
Deficiencies, Glucocerebrosidase
Deficiency, Glucocerebrosidase
Glucocerebrosidase Deficiencies
Gauchers Disease
Disease, Gauchers
Diseases, Gauchers
Gauchers Diseases
Glucocerebrosidosis
Glucocerebrosidoses
Glucosyl Cerebroside Lipidosis
Cerebroside Lipidoses, Glucosyl
Cerebroside Lipidosis, Glucosyl
Glucosyl Cerebroside Lipidoses
Lipidoses, Glucosyl Cerebroside
Lipidosis, Glucosyl Cerebroside
Glucosylceramidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramide Lipidosis
Glucosylceramide Lipidoses
Lipidoses, Glucosylceramide
Lipidosis, Glucosylceramide
Kerasin Histiocytosis
Histiocytoses, Kerasin
Histiocytosis, Kerasin
Kerasin Histiocytoses
Kerasin Lipoidosis
Kerasin Lipoidoses
Lipoidoses, Kerasin
Lipoidosis, Kerasin
Kerasin thesaurismosis
Kerasin thesaurismoses
thesaurismoses, Kerasin
thesaurismosis, Kerasin
Lipoid Histiocytosis (Kerasin Type)
Histiocytoses, Lipoid (Kerasin Type)
Histiocytosis, Lipoid (Kerasin Type)
Lipoid Histiocytoses (Kerasin Type)
Gaucher's Disease
Disease, Gaucher's
Cerebroside Lipidosis Syndrome
Cerebroside Lipidosis Syndromes
Lipidosis Syndrome, Cerebroside
Lipidosis Syndromes, Cerebroside
Syndrome, Cerebroside Lipidosis
Syndromes, Cerebroside Lipidosis
Glucocerebrosidase Deficiency Disease
Deficiency Disease, Glucocerebrosidase
Deficiency Diseases, Glucocerebrosidase
Disease, Glucocerebrosidase Deficiency
Diseases, Glucocerebrosidase Deficiency
Glucocerebrosidase Deficiency Diseases
Glucosylceramide Beta-Glucosidase Deficiency Disease
Acid beta-Glucosidase Deficiency Disease
Acid beta-Glucosidase Deficiency
Gaucher Splenomegaly
Splenomegaly, Gaucher
Gaucher Syndrome
Syndrome, Gaucher
Gaucher Disease, Type 3
Neuronopathic Gaucher Disease
Gaucher Disease, Juvenile
Disease, Juvenile Gaucher
Juvenile Gaucher Disease
Gaucher Disease, Neuronopathic
Disease, Neuronopathic Gaucher
Gaucher Disease, Subacute Neuronopathic Form
Gaucher Disease, Subacute Neuronopathic Type
Gaucher Disease, Type III
Type 3 Gaucher Disease
Gaucher Disease Type 3
Gaucher Disease, Chronic Neuronopathic Type
Gaucher Disease, Juvenile and Adult, Cerebral
Subacute Neuronopathic Gaucher Disease
Gaucher Disease, Type 1
Gaucher Disease, Chronic
Gaucher Disease, Non-Neuronopathic Form
Gaucher Disease, Non Neuronopathic Form
GBA Deficiency
Deficiencies, GBA
Deficiency, GBA
GBA Deficiencies
Type 1 Gaucher Disease
Gaucher Disease Type 1
Gaucher Disease, Noncerebral Juvenile
Gaucher Disease, Type I
Chronic Gaucher Disease
Disease, Chronic Gaucher
Non-Neuronopathic Gaucher Disease
Disease, Non-Neuronopathic Gaucher
Gaucher Disease, Non-Neuronopathic
Non Neuronopathic Gaucher Disease
Gaucher Disease, Type 2
Acute Neuronopathic Gaucher Disease
Gaucher Disease, Acute Neuronopathic
Gaucher Disease, Infantile
Disease, Infantile Gaucher
Gaucher Disease, Acute Neuronopathic Type
Gaucher Disease, Type II
Type 2 Gaucher Disease
Gaucher Disease Type 2
Gaucher Disease, Infantile Cerebral
Infantile Gaucher Disease
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