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Disease Gangliosidosis, GM1

Name Gangliosidosis, GM1
Synonyms Adult GM1 Gangliosidosis | beta Galactosidase 1 Deficiency | beta-Galactosidase-1 Deficiency | Beta Galactosidase 1 Deficiency Disease | Beta-Galactosidase-1 Deficiency Disease | Beta-Galactosidase-1 (GLB1) Deficiency | beta Galactosidase Deficiency | beta-Galactosidase Deficiency | Beta Galactosidosis | Beta-Galactosidosis | Deficiencies, GLB1 | Deficiency, beta Galactosidase | Deficiency, beta-Galactosidase | Deficiency, beta-Galactosidase-1 | Deficiency, GLB1 | Gangliosidosis, Adult GM1 | 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 1 | Gangliosidosis, Generalized GM1 Type 2 | Gangliosidosis, Generalized GM1, Type 2 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED | Gangliosidosis, Generalized GM1, Type 3 | Gangliosidosis, Generalized GM1, Type I | Gangliosidosis, Generalized GM1, Type II | Gangliosidosis, Generalized GM1, Type III | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED | Gangliosidosis GM1 | Gangliosidosis G(M1) | Gangliosidosis GM1, Adult | Gangliosidosis GM1, Infantile | Gangliosidosis GM1, Juvenile | Gangliosidosis GM1, Type 1 | Gangliosidosis GM1, Type 2 | Gangliosidosis GM1 Type 3 | Gangliosidosis GM1, Type 3 | Generalized Gangliosidosis | GLB1 Deficiency | GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED | GM1-Gangliosidoses, Type I | GM1-Gangliosidoses, Type II | GM1-Gangliosidoses, Type III | G(M1) Gangliosidosis | GM1 Gangliosidosis | GM1 Gangliosidosis, Adult | GM1 Gangliosidosis, Type I | GM1-Gangliosidosis, Type I | GM1 Gangliosidosis, Type II | GM1-Gangliosidosis, Type II | GM1 Gangliosidosis, Type III | GM1-Gangliosidosis, Type III | 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
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D016537
OMIM® IDs 230500 | 230600 | 230650
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidosis, GM1 Has associated chemicals Has associated genes

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Gangliosidosis, GM1 Has associated chemicals Has associated genes
  Gangliosidosis, Generalized GM1, Late-Infantile Type
  Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement