| Descriptor English: | Gangliosidosis, GM1 | ||||||
| Descriptor Spanish: |
Gangliosidosis GM1
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| Descriptor Portuguese: | Gangliosidose GM1 | ||||||
| Descriptor French: | Gangliosidose à GM1 | ||||||
| Entry term(s): |
Adult GM1 Gangliosidosis Beta Galactosidase 1 Deficiency Disease Beta Galactosidosis Beta-Galactosidase-1 (GLB1) Deficiency Beta-Galactosidase-1 Deficiency Disease Beta-Galactosidosis Deficiencies, GLB1 Deficiency, GLB1 Deficiency, beta Galactosidase Deficiency, beta-Galactosidase Deficiency, beta-Galactosidase-1 G(M1) Gangliosidosis GLB1 Deficiency GM1 Gangliosidosis GM1 Gangliosidosis, Adult GM1 Gangliosidosis, Type I GM1 Gangliosidosis, Type II GM1 Gangliosidosis, Type III GM1-Gangliosidoses, Type I GM1-Gangliosidoses, Type II GM1-Gangliosidoses, Type III GM1-Gangliosidosis, Type I GM1-Gangliosidosis, Type II GM1-Gangliosidosis, Type III Gangliosidosis G(M1) Gangliosidosis GM1 Gangliosidosis GM1 Type 3 Gangliosidosis GM1, Adult Gangliosidosis GM1, Infantile Gangliosidosis GM1, Juvenile Gangliosidosis GM1, Type 1 Gangliosidosis GM1, Type 2 Gangliosidosis GM1, Type 3 Gangliosidosis Generalized GM1, Type 1 Gangliosidosis, Adult GM1 Gangliosidosis, Generalized GM1 Type 2 Gangliosidosis, Generalized GM1, Adult Type Gangliosidosis, Generalized GM1, Chronic Type Gangliosidosis, Generalized GM1, Infantile Form Gangliosidosis, Generalized GM1, Juvenile Type Gangliosidosis, Generalized GM1, Type 1 Gangliosidosis, Generalized GM1, Type 2 Gangliosidosis, Generalized GM1, Type 3 Gangliosidosis, Generalized GM1, Type I Gangliosidosis, Generalized GM1, Type II Gangliosidosis, Generalized GM1, Type III Generalized Gangliosidosis Infantile Gangliosidosis GM1 Juvenile Gangliosidosis GM1 Type 3 (Adult) GM1 Gangliosidosis Type I GM1-Gangliosidoses Type I GM1-Gangliosidosis Type II GM1-Gangliosidoses Type II GM1-Gangliosidosis Type III GM1-Gangliosidoses Type III GM1-Gangliosidosis beta Galactosidase 1 Deficiency beta Galactosidase Deficiency beta-Galactosidase Deficiency beta-Galactosidase-1 Deficiency |
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| Tree number(s): |
C10.228.140.163.100.435.825.300.400 C16.320.565.189.435.825.300.400 C16.320.565.398.641.803.350.360 C16.320.565.595.554.825.300.400 C18.452.132.100.435.825.300.400 C18.452.584.563.641.803.350.360 C18.452.648.189.435.825.300.400 C18.452.648.398.641.803.350.360 C18.452.648.595.554.825.300.400 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D016537 | ||||||
| Scope note: | An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) |
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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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| Previous Indexing: |
Gangliosidoses (1976-1991) Lipoidosis (1966-1975) Metabolism, Inborn Errors (1966-1975) |
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| Public MeSH Note: | 2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999 |
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| History Note: | 2007(1992) |
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| Related: |
beta-Galactosidase
MeSH | ||||||
| DeCS ID: | 30091 | ||||||
| Unique ID: | D016537 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1992/01/01 | ||||||
| Date of Entry: | 1991/06/21 | ||||||
| Revision Date: | 2013/07/08 |
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Gangliosidosis, GM1
- Preferred
Gangliosidosis, Generalized GM1, Type 3
- Narrower
Gangliosidosis, Generalized GM1, Type 2
- Narrower
beta-Galactosidase Deficiency
- Related but not broader or narrower
Gangliosidosis, Generalized GM1, Type 1
- Narrower
| Concept UI |
M0025239 |
| Scope note | An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) |
| Preferred term | Gangliosidosis, GM1 |
| Entry term(s) |
Beta Galactosidase 1 Deficiency Disease Beta Galactosidosis Beta-Galactosidase-1 Deficiency Disease Beta-Galactosidosis G(M1) Gangliosidosis GM1 Gangliosidosis Gangliosidosis G(M1) Gangliosidosis GM1 |
| Concept UI |
M0335231 |
| Preferred term | Gangliosidosis, Generalized GM1, Type 3 |
| Entry term(s) |
Adult GM1 Gangliosidosis GM1 Gangliosidosis, Adult GM1 Gangliosidosis, Type III GM1-Gangliosidoses, Type III GM1-Gangliosidosis, Type III Gangliosidosis GM1 Type 3 Gangliosidosis GM1, Adult Gangliosidosis GM1, Type 3 Gangliosidosis, Adult GM1 Gangliosidosis, Generalized GM1, Adult Type Gangliosidosis, Generalized GM1, Chronic Type Gangliosidosis, Generalized GM1, Type III Type 3 (Adult) GM1 Gangliosidosis Type III GM1-Gangliosidoses Type III GM1-Gangliosidosis |
| Concept UI |
M0335233 |
| Preferred term | Gangliosidosis, Generalized GM1, Type 2 |
| Entry term(s) |
GM1 Gangliosidosis, Type II GM1-Gangliosidoses, Type II GM1-Gangliosidosis, Type II Gangliosidosis GM1, Juvenile Gangliosidosis GM1, Type 2 Gangliosidosis, Generalized GM1 Type 2 Gangliosidosis, Generalized GM1, Juvenile Type Gangliosidosis, Generalized GM1, Type II Juvenile Gangliosidosis GM1 Type II GM1-Gangliosidoses Type II GM1-Gangliosidosis |
| Concept UI |
M0536546 |
| Preferred term | beta-Galactosidase Deficiency |
| Entry term(s) |
Beta-Galactosidase-1 (GLB1) Deficiency Deficiencies, GLB1 Deficiency, GLB1 Deficiency, beta Galactosidase Deficiency, beta-Galactosidase Deficiency, beta-Galactosidase-1 GLB1 Deficiency beta Galactosidase 1 Deficiency beta Galactosidase Deficiency beta-Galactosidase-1 Deficiency |
| Concept UI |
M0335232 |
| Preferred term | Gangliosidosis, Generalized GM1, Type 1 |
| Entry term(s) |
GM1 Gangliosidosis, Type I GM1-Gangliosidoses, Type I GM1-Gangliosidosis, Type I Gangliosidosis GM1, Infantile Gangliosidosis GM1, Type 1 Gangliosidosis Generalized GM1, Type 1 Gangliosidosis, Generalized GM1, Infantile Form Gangliosidosis, Generalized GM1, Type I Generalized Gangliosidosis Infantile Gangliosidosis GM1 Type I GM1-Gangliosidoses Type I GM1-Gangliosidosis |
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