Concept information
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Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Gangliosidoses
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Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Gangliosidoses
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Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Gangliosidoses
...
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Gangliosidoses
Preferred term
Gangliosidoses, GM2
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- Gangliosidoses GM2
- Gangliosidosis, GM2
- GM2 Gangliosidoses
- G(M2) Gangliosidoses
- GM2, Gangliosidoses
- GM2 Gangliosidosis
Scope note
- A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
History note
- 2007 (2000)
In other languages
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Finnish
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aikuisen GM2-gangliosidoosi
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gangliosidoosi GM2
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gangliosidosis GM2
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gangliosidosis GM2 adultorum
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gangliosidosis GM2 juvenilis
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gangliosidosis GM2 NAS
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GM2-gangliosidoosi
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GM2-gangliosidos
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GM2-gangliosidos juvenil
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GM2-gangliosidos UNS
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GM2-gangliosidos vuxen
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GM2-proteiiniaktivaatorin puute
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juveniili GM2-gangliosidoosi
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morbus Sandhoff
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morbus Tay-Sachs
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Sandhoffin tauti
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Sandhoffs sjukdom
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tarkemmin määrittämätön GM2-gangliosidoosi
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Tay-Sachs sjukdom
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Tay-Sachsin tauti
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Swedish
URI
http://www.yso.fi/onto/mesh/D020143
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