ORPHA:309185
Tay-Sachs disease, juvenile form
Synonyms: Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form · HEXA disorder, juvenile form · Subacute juvenile Tay-Sachs disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Tay-Sachs disease
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tay-Sachs disease, juvenile form | Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form · HEXA disorder, juvenile form · Subacute juvenile Tay-Sachs disease |
| fr | Maladie de Tay-Sachs, forme juvénile | Déficit en sous-unité bêta-hexosaminidase alpha, forme juvénile · Gangliosidose à GM2, variant Tay-Sachs, forme juvénile · Gangliosidose à GM2, variant déficit en hexosaminidase A, forme juvénile · Maladie juvénile subaiguë de Tay-Sachs |
| de | Tay-Sachs-Krankheit, juvenile Form | Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, juvenile Form · GM2-Gangliosidose, Tay-Sachs-Variante, juvenile Form · GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, juvenile Form · Hexosaminidase A-Mangel, juvenile Form · Subakute juvenile Tay-Sachs-Krankheit |
| es | Enfermedad de Tay-Sachs forma juvenil | Deficiencia de hexosaminidasa A, forma juvenil · Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma juvenil · Enfermedad de Tay-Sachs juvenil subaguda · Gangliosidosis GM2, variante Tay-Sachs, forma juvenil · Gangliosidosis GM2, variante por deficiencia de hexosaminidasa A, forma juvenil · Trastorno HEXA, forma juvenil |
| it | Malattia di Tay-Sachs, forma giovanile | Deficit di beta-esosaminidasi subunità alfa, forma giovanile · GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma giovanile · GM2-gangliosidosi, variante di Tay-Sachs, forma giovanile · Malattia correlata a HEXA, forma giovanile · Malattia di Tay-Sachs subacuta giovanile |
| nl | Ziekte van Tay-Sachs, juveniele vorm | Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, juveniele vorm · GM2-gangliosidose, Tay-Sachs-variant, juveniele vorm · GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, juveniele vorm · HEXA-stoornis, juveniele vorm · Subacute juveniele ziekte van Tay-Sachs |
| pt | Doença Tay-Sachs, juvenil | Deficiência da subunidade alfa beta-hexosaminidase, juvenil · Doença HEXA, juvenil · Doença Tay-Sachs juvenil sub-aguda · Gangliosidose GM2, variante Tay-Sachs, juvenil · Gangliosidose GM2, variante devido a deficiência de hexosaminidase A, juvenil |
| pl | Choroba Taya i Sachsa, wariant B, postać młodzieńcza | Gangliozydoza GM2, wariant B, postać młodzieńcza · Niedobór heksozoaminidazy A, postać młodzieńcza |
| cs | Tayova-Sachsova nemoc, B varianta, juvenilní forma | GM2 gangliosidóza, B varianta, juvenilní forma · Deficit hexosaminidázy A, juvenilní forma · Tay-Sachsova nemoc, B varianta, juvenilní forma |
| uk | Хвороба Тея-Сакса, ювенільна форма | Дефіцит альфа-субодиниці бета-гексозамінідази, ювенільна форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А, ювенільна форма · GM2 гангліозидоз, варіант Тея-Сакса, ювенільна форма · HEXA-розлад, ювенільна форма · Підгостра ювенільна хвороба Тея-Сакса |
| zh | B型青少年型泰萨克斯病 | 青少年型B型GM2神经节苷脂贮积症 |
| tr | Tay-Sachs hastalığı, B varyantı, genç formu | Hekzosaminidaz A eksikliği, jüvenil formu · GM2 gangliosidosis, B varyantı, jüvenil formu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272800 | NTBT | validated | |
| ICD-10 | E75.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0017725 | E | validated | |
| UMLS | C5925030 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:845Tay-Sachs disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HEXA | Disease-causing germline mutation(s) in | Assessed | HGNC:4878 | ENSG00000213614 | 606869 | 15q23 | hexosaminidase subunit alpha |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309185
- This record as JSON: /data/d/309185.json