Tay-Sachs disease

Orpha code: 845OMIM code: 272800

Definition

A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.

Disease data
Classification

Disease

Synonyms
GM2 gangliosidosis, B, B1 variant
GM2-gangliozydoza,wariant B, B1
Niedobór heksoaminidazy A
Hexosaminidase A deficiency
ORPHA code
845
OMIM code
272800
ICD10 code
E75.0
ICD11 code
5C56.00

No additional description.

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