ORPHA:309192
Tay-Sachs disease, adult form
Synonyms: Beta-hexosaminidase subunit alpha deficiency, adult form · GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form · HEXA disorder, adult form · Late-onset Tay-Sachs disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Tay-Sachs disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tay-Sachs disease, adult form | Beta-hexosaminidase subunit alpha deficiency, adult form · GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form · HEXA disorder, adult form · Late-onset Tay-Sachs disease |
| fr | Maladie de Tay-Sachs, forme adulte | Déficit en sous-unité bêta-hexosaminidase alpha, forme adulte · Gangliosidose à GM2, variant Tay-Sachs, forme adulte · Gangliosidose à GM2, variant déficit en hexosaminidase A, forme adulte · Maladie de Tay-Sachs à apparition tardive |
| de | Tay-Sachs-Krankheit, adulte Form | Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, adulte Form · GM2-Gangliosidose, Tay-Sachs-Variante, adulte Form · GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, adulte Form · Hexosaminidase A-Mangel, adulte Form · Tay-Sachs-Krankheit, spät einsetzende |
| es | Enfermedad de Tay-Sachs forma adulta | Gangliosidosis GM2, variante Tay-Sachs, forma adulta · Gangliosidosis GM2, variante deficiencia de hexosaminidasa A, forma adulta · Trastorno HEXA, forma adulta · Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma adulta · Enfermedad de Tay-Sachs de inicio tardío |
| it | Malattia di Tay-Sachs, forma dell'adulto | Deficit di beta-esosaminidasi subunità alfa, forma dell'adulto · GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma dell'adulto · GM2-gangliosidosi, variante di Tay-Sachs, forma dell'adulto · Malattia correlata a HEXA, forma dell'adulto · Malattia di Tay-Sachs ad esordio tardivo |
| nl | Ziekte van Tay-Sachs, volwassen vorm | Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, volwassen vorm · GM2-gangliosidose, Tay-Sachs-variant, volwassen vorm · GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, volwassen vorm · HEXA-stoornis, volwassen vorm · Laat-optredende ziekte van Tay-Sachs |
| pt | Doença Tay-Sachs, no adulto | Deficiência da subunidade alfa beta-hexosaminidase, no adulto · Doença HEXA, no adulto · Doença Tay-Sachs de início tardio · Gangliosidose GM2, variante Tay-Sachs, no adulto · Gangliosidose GM2, variante devido a deficiência de hexosaminidade A, no adulto |
| pl | Choroba Taya i Sachsa, wariant B, postać dorosła | Gangliozydoza GM2, wariant B, postać dorosła · Niedobór heksozoaminidazy A, postać dorosła |
| cs | Tayova-Sachsova nemoc, B varianta, adultní forma | GM2 gangliosidóza, B varianta, adultní forma · Deficit hexosaminidázy A, adultní forma · Tay-Sachsova nemoc, B varianta, adultní forma |
| uk | Хвороба Тея-Сакса, доросла форма | Дефіцит альфа-субодиниці бета-гексозамінідази, доросла форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А, доросла форма · GM2 гангліозидоз, варіант Тея-Сакса, доросла форма · HEXA-розлад, доросла форма · Хвороба Тея-Сакса з пізнім початком |
| zh | B型成人型泰萨克斯病 | 成人型B型GM2神经节苷脂贮积症 |
| tr | Tay-Sachs hastalığı, B varyantı, yetişkin formu | Hekzosaminidaz A eksikliği, erişkin formu · GM2 gangliosidoz, B varyantı, erişkin formu |
2
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 | 0017726 | E | validated | |
| UMLS | C5925032 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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 |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/309192
- This record as JSON: /data/d/309192.json