ORPHA:309178
Tay-Sachs disease, infantile form
Synonyms: Acute infantile Tay-Sachs disease · Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form · GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form · HEXA disorder, infantile form
- 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, infantile form | Acute infantile Tay-Sachs disease · Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form · GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form · HEXA disorder, infantile form |
| fr | Maladie de Tay-Sachs, forme infantile | Déficit en sous-unité bêta-hexosaminidase alpha, forme infantile · Gangliosidose à GM2, variant Tay-Sachs, forme infantile · Gangliosidose à GM2, variant déficit en hexosaminidase A, forme infantile · Maladie infantile aiguë de Tay-Sachs |
| de | Tay-Sachs-Krankheit, infantile Form | Akute infantile Tay-Sachs-Krankheit · Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase, infantile Form · GM2-Gangliosidose, Tay-Sachs-Variante, infantile Form · GM2-Gangliosidose, Variante des Hexosaminidase-A-Mangels, infantile Form · Hexosaminidase A-Mangel, infantile Form |
| es | Enfermedad de Tay-Sachs forma infantil | Gangliosidosis GM2, variante deficiencia de hexosaminidasa A, forma infantil · Trastorno HEXA, forma infantil · Deficiencia de la subunidad alfa de la beta-hexosaminidasa, forma infantil · Enfermedad de Tay-Sachs infantil aguda · Gangliosidosis GM2, variante Tay-Sachs, forma infantil |
| it | Malattia di Tay-Sachs, forma infantile | Deficit di beta-esosaminidasi subunità alfa · GM2-gangliosidosi, variante da deficit di esosaminidasi A, forma infantile · GM2-gangliosidosi, variante di Tay-Sachs, forma infantile · Malattia correlata a HEXA, forma infantile · Malattia di Tay-Sachs acuta infantile |
| nl | Ziekte van Tay-Sachs, infantiele vorm | Acute infantiele ziekte van Tay-Sachs · Deficiëntie van alfa-subeenheid van bèta-hexosaminidase, infantiele vorm · GM2-gangliosidose, Tay-Sachs-variant, infantiele vorm · GM2-gangliosidose, variant met hexosaminidase A-deficiëntie, infantiele vorm · HEXA-stoornis, infantiele vorm |
| pt | Doença Tay-Sachs, infantil | Deficiência da subunidade alfa beta-hexosaminidase, infantil · Doença HEXA, infantil · Doença Tay-Sachs infantil aguda · Gangliosidose GM2, variante Tay-Sachs, infantil · Gangliosidose GM2, variante devido a deficiência de hexosaminidase A, infantil |
| pl | Choroba Taya i Sachsa, wariant B, postać niemowlęca | Gangliozydoza GM2, wariant B, postać niemowlęca · Niedobór heksozoaminidazy A, postać niemowlęca |
| cs | Tayova-Sachsova nemoc, B varianta, infantilní forma | GM2 gangliosidóza, B varianta, infantilní forma · Deficit hexosaminidázy A, infantilní forma · Tay-Sachsova nemoc, B varianta, infantilní forma |
| uk | Хвороба Тея-Сакса, інфантильна форма | Гостра дитяча хвороба Тея-Сакса · Дефіцит альфа-субодиниці бета-гексозамінідази, дитяча форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А, інфантильна форма · GM2 гангліозидоз, варіант Тея-Сакса, інфантильна форма · HEXA-розлад, інфантильна форма |
| zh | B型婴儿型泰萨克斯病 | 婴儿型B型GM2神经节苷脂贮积症 |
| tr | Tay-Sachs hastalığı, B varyantı, infantil formu | Hekzosaminidaz A eksikliği, infantil form · GM2 gangliosidoz, B varyantı, infantil 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 | 0017724 | E | validated | |
| UMLS | C5925031 | 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/309178
- This record as JSON: /data/d/309178.json