| Descriptor English: | Gaucher Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Gaucher
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| Descriptor Portuguese: | Doença de Gaucher | ||||||
| Descriptor French: | Maladie de Gaucher | ||||||
| Entry term(s): |
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 Glucocerebrosidoses Glucocerebrosidosis 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 |
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| Tree number(s): |
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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D005776 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999 |
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| History Note: | 2000(1966) |
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| Entry Version: | GAUCHER DIS |
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| Related: |
Glucosylceramidase
MeSH | ||||||
| DeCS ID: | 5916 | ||||||
| Unique ID: | D005776 | ||||||
| NLM Classification: | WD 205.5.L5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Gaucher Disease
- Preferred
Gaucher Disease, Type 3
- Narrower
Gaucher Disease, Type 1
- Narrower
Gaucher Disease, Type 2
- Narrower
| Concept UI |
M0009048 |
| Scope note | 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. |
| Preferred term | Gaucher Disease |
| Entry term(s) |
Acid beta-Glucosidase Deficiency Acid beta-Glucosidase Deficiency Disease Cerebroside Lipidoses, Glucosyl Cerebroside Lipidosis Syndrome 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 Gaucher Splenomegaly Gaucher Syndrome Gaucher's Disease Gauchers Disease Gauchers Diseases Glucocerebrosidase Deficiencies Glucocerebrosidase Deficiency Glucocerebrosidase Deficiency Disease Glucocerebrosidase Deficiency Diseases Glucocerebrosidoses Glucocerebrosidosis 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) 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 Splenomegaly, Gaucher Syndrome, Cerebroside Lipidosis Syndrome, Gaucher Syndromes, Cerebroside Lipidosis thesaurismoses, Kerasin thesaurismosis, Kerasin |
| Concept UI |
M0335238 |
| Scope note | This type shows moderate to severe neurological effect in childhood. |
| Preferred term | Gaucher Disease, Type 3 |
| Entry term(s) |
Disease, Juvenile Gaucher Disease, Neuronopathic Gaucher Gaucher Disease Type 3 Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile Gaucher Disease, Juvenile and Adult, Cerebral Gaucher Disease, Neuronopathic Gaucher Disease, Subacute Neuronopathic Form Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Type III Juvenile Gaucher Disease Neuronopathic Gaucher Disease Subacute Neuronopathic Gaucher Disease Type 3 Gaucher Disease |
| Concept UI |
M0335236 |
| Scope note | This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. |
| Preferred term | Gaucher Disease, Type 1 |
| Entry term(s) |
Chronic Gaucher Disease Deficiencies, GBA Deficiency, GBA Disease, Chronic Gaucher Disease, Non-Neuronopathic Gaucher GBA Deficiencies GBA Deficiency Gaucher Disease Type 1 Gaucher Disease, Chronic Gaucher Disease, Non Neuronopathic Form Gaucher Disease, Non-Neuronopathic Gaucher Disease, Non-Neuronopathic Form Gaucher Disease, Noncerebral Juvenile Gaucher Disease, Type I Non Neuronopathic Gaucher Disease Non-Neuronopathic Gaucher Disease Type 1 Gaucher Disease |
| Concept UI |
M0335237 |
| Scope note | This type usually shows severe neurological effect in the first year of life. |
| Preferred term | Gaucher Disease, Type 2 |
| Entry term(s) |
Acute Neuronopathic Gaucher Disease Disease, Infantile Gaucher Gaucher Disease Type 2 Gaucher Disease, Acute Neuronopathic Gaucher Disease, Acute Neuronopathic Type Gaucher Disease, Infantile Gaucher Disease, Infantile Cerebral Gaucher Disease, Type II Infantile Gaucher Disease Type 2 Gaucher Disease |
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