Structured Summary
Abstract
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.
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Synonyms
104 entry terms
- Acid beta-Glucosidase Deficiency
- Acid beta-Glucosidase Deficiency Disease
- Cerebroside Lipidosis Syndrome
- Gaucher Splenomegaly
- Gaucher Syndrome
- Gaucher's Disease
- Gauchers Disease
- Glucocerebrosidase Deficiency
- Glucocerebrosidase Deficiency Disease
- Glucocerebrosidosis
- Glucosyl Cerebroside Lipidosis
- Glucosylceramidase Deficiency
- Glucosylceramide Beta-Glucosidase Deficiency
- Glucosylceramide Beta-Glucosidase Deficiency Disease
- Glucosylceramide Lipidosis
- Kerasin Histiocytosis
- Kerasin Lipoidosis
- Kerasin thesaurismosis
- Lipoid Histiocytosis (Kerasin Type)
- Cerebroside Lipidoses, Glucosyl
- Cerebroside Lipidosis Syndromes
- Cerebroside Lipidosis, Glucosyl
- Deficiencies, Glucocerebrosidase
- Deficiency Disease, Glucocerebrosidase
- Deficiency Diseases, Glucocerebrosidase
- Deficiency, Glucocerebrosidase
- Disease, Gaucher
- Disease, Gaucher's
- Disease, Gauchers
- Disease, Glucocerebrosidase Deficiency
- Diseases, Gauchers
- Diseases, Glucocerebrosidase Deficiency
- 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)
- 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
- Splenomegaly, Gaucher
- Syndrome, Cerebroside Lipidosis
- Syndrome, Gaucher
- Syndromes, Cerebroside Lipidosis
- thesaurismoses, Kerasin
- thesaurismosis, Kerasin
- Acute Neuronopathic Gaucher Disease
- Chronic Gaucher Disease
- 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, 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
- Infantile Gaucher Disease
- Neuronopathic Gaucher Disease
- Non-Neuronopathic Gaucher Disease
- Subacute Neuronopathic Gaucher Disease
- Type 1 Gaucher Disease
- Type 2 Gaucher Disease
- Type 3 Gaucher Disease
- Deficiencies, GBA
- Deficiency, GBA
- Disease, Chronic Gaucher
- Disease, Infantile Gaucher
- Disease, Juvenile Gaucher
- Disease, Neuronopathic Gaucher
- Disease, Non-Neuronopathic Gaucher
- GBA Deficiencies
- Gaucher Disease, Non Neuronopathic Form
- Gaucher Disease, Non-Neuronopathic
- Juvenile Gaucher Disease
- Non Neuronopathic Gaucher Disease
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2000(1966)
MeSH Hierarchy
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NLM Classification
QU 265.5.L5
AMA Style
References
- National Library of Medicine. Gaucher Disease. Medical Subject Headings (MeSH). 2026. Unique ID D005776. http://id.nlm.nih.gov/mesh/2026/D005776
- Gaucher Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Gaucher%27s_disease
- Gaucher Disease. In: Wikidata. https://www.wikidata.org/wiki/Q861645