Number of the records: 1
Tay-Sachsova choroba
Record number d013661 Date 06.06.2025 Type M Topical term Tay-Sachsova choroba Other term English (Pseudonym) Gangliosidosis GM2, B Variant
English (Pseudonym) Gangliosidosis G(M2), Type I
English (Pseudonym) G(M2) Gangliosidosis, Type I
English (Pseudonym) Hexosaminidase A Deficiency Disease
English (Pseudonym) Tay-Sachs Disease, B Variant
Slovak (Pseudonym) idiocia amaurotická familiárna
Slovak (Pseudonym) gangliozidóza G(M2), typ I
Slovak (Pseudonym) gangliozidóza GM2, typ 1
Slovak (Pseudonym) gangliozidóza GM2, variant B
Slovak (Pseudonym) GM2-gangliozidóza, variant B
Slovak (Pseudonym) choroba z deficitu hexozaminidázy A
Slovak (Pseudonym) choroba z deficiencie hexozaminidázy A
Slovak (Pseudonym) deficiencia HexA
Slovak (Pseudonym) deficit HexA
Slovak (Pseudonym) Tayova-Sachsova choroba, variant B
Slovak (Pseudonym) deficit hexozaminidázy A
Slovak (Pseudonym) deficiencia hexozaminidázy A
Slovak (Pseudonym) nedostatok hexozaminidázy A
Slovak (Pseudonym) deficit alfa-podjednotky hexozaminidázy
Slovak (Pseudonym) deficit alfa-subjednotky hexozaminidázy
Slovak (Pseudonym) deficiencia alfa-podjednotky hexozaminidázy
Slovak (Pseudonym) deficiencia alfa-subjednotky hexozaminidázy
Slovak (Pseudonym) Tay-Sachsova sfingolipidóza
Slovak (Pseudonym) Tay-Sachsova choroba, B-variant
Slovak (Pseudonym) Tayova-Sachsova choroba
See also (Later heading) beta-N-acetylhexozaminidázy
(Later heading) G(M2) gangliozid
(Skutočné meno) beta-N-acetylhexozaminidázy
(Later heading) hexózaminidáza A
UDC C10.228.140.163.100.435.825.300.300.500C16.320.565.189.435.825.300.300.500C16.320.565.398.641.803.350.300.850C16.320.565.595.554.825.300.300.840C18.452.132.100.435.825.300.300.500C18.452.584.563.641.803.350.300.850C18.452.648.189.435.825.300.300.500C18.452.648.398.641.803.350.300.850C18.452.648.595.554.825.300.300.840 Note An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. 
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Number of the records: 1