raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:309239

OBSOLETE: Tay-Sachs disease, B1 variant

inactive · referred to ORPHA:845Tay-Sachs disease

Synonyms: OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

Type
Clinical subtype
Group
Subtype of disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Tay-Sachs disease

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Tay-Sachs disease, B1 variantOBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant
frOBSOLETE : Maladie de Tay-Sachs, variant B1OBSOLETE : Déficit en hexosaminidase A, variant B1 · OBSOLETE : Gangliosidose à GM2 variant B1
deOBSOLET: Tay-Sachs-Krankheit, B1-VarianteOBSOLET: GM2-Gangliosidose, B1-Variante · OBSOLET: Hexosaminidase A-Mangel, B1-Variante
esOBSOLETO: Enfermedad de Tay-Sachs, variante B1OBSOLETO: Deficiencia de hexosaminidasa A, variante B1 · OBSOLETO: Gangliosidosis GM2, variante B1
itOBSOLETO: Malattia di Tay-Sachs, variante B1OBSOLETO: Deficit di esosaminidasi A, variante B1 · OBSOLETO: GM2-gangliosidosi, variante B1
nlOBSOLEET: Ziekte van Tay-Sachs, B1-variantOBSOLEET: GM2-gangliosidose, B, B1-variant · OBSOLEET: Hexosaminidase A-deficiëntie, B1-variant
ptOBSOLETO: Doença de Tay-Sachs, variante B1
plNIEAKTUALNE: Choroba Taya i Sachsa, wariant B1NIEAKTUALNE: Gangliozydoza GM2, wariant B1 · NIEAKTUALNE: Niedobór heksozoaminidazy A, wariant B1
csNEAKTUÁLNÍ: Tayova-Sachsova nemoc, B1 variantaNEAKTUÁLNÍ: GM2 gangliosidóza, B1 varianta · NEAKTUÁLNÍ: Deficit hexosaminidázy A, B1 varianta · NEAKTUÁLNÍ: Tay-Sachsova nemoc, B1 varianta
ukЗАСТАРІЛО: Хвороба Тея-Сакса, варіант В1ЗАСТАРІЛО: Гангліозидоз GM2, варіант B1 · ЗАСТАРІЛО: Дефіцит гексозамінідази А, варіант В1
zhB1型泰萨克斯病B1型己糖胺酶A缺乏
trTay-Sachs hastalığı, B1 varyantıGM2 gangliosidoz, B1 varyantı · Hekzosaminidaz A eksikliği, B1 varyantı
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card