ORPHA:845
Tay-Sachs disease
Synonyms: Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant · GM2 gangliosidosis, hexosaminidase A deficiency variant · HEXA disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tay-Sachs disease | Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant · GM2 gangliosidosis, hexosaminidase A deficiency variant · HEXA disorder |
| fr | Maladie de Tay-Sachs | Déficit en sous-unité bêta-hexosaminidase alpha · Gangliosidose à GM2, variant Tay-Sachs · Gangliosidose à GM2, variant déficit en hexosaminidase A |
| de | Tay-Sachs-Krankheit | Alpha-Untereinheit-Defizienz der Beta-Hexosaminidase · GM2-Gangliosidose, Hexosaminidase-A-Mangel-Varinante · GM2-Gangliosidose, Tay-Sachs-Variante · GM2-Gangliosidose, Varianten B und B1 |
| es | Enfermedad de Tay-Sachs | Deficiencia de la subunidad alfa de la beta-hexosaminidasa · Gangliosidosis GM2, variante Tay-Sachs · Gangliosidosis GM2, variante deficiencia de hexosaminidasa A · Trastorno HEXA |
| it | Malattia di Tay-Sachs | Deficit di beta-esosaminidasi subunità alfa · GM2-gangliosidosi, variante da deficit di esosaminidasi A · GM2-gangliosidosi, variante di Tay-Sachs · Malattia correlata a HEXA |
| nl | Ziekte van Tay-Sachs | Deficiëntie van alfa-subeenheid van bèta-hexosaminidase · GM2-gangliosidose, Tay-Sachs-variant · GM2-gangliosidose, hexosaminidase A-deficiëntie-variant · HEXA-stoornis |
| pt | Doença Tay-Sachs | Deficiência da subunidade alfa da beta-hexosaminidase · Doença HEXA · Gangliosidose GM2, variante Tay-Sachs · Gangliosidose GM2, variante com deficiência de hexosaminidase A |
| pl | Choroba Tay'a i Sachsa | GM2-gangliozydoza,wariant B, B1 · Niedobór heksoaminidazy A |
| cs | Tayova-Sachsova nemoc | GM2 gangliosidóza, varianta B · Deficit hexosaminidázy A · Tay-Sachsova nemoc |
| uk | Хвороба Тея-Сакса | Дефіцит альфа-субодиниці бета-гексозамінідази · GM2 гангліозидоз, варіант дефіциту гексозамінідази А · GM2 гангліозидоз, варіант Тея-Сакса · HEXA розлад |
| zh | Tay-Sachs病 | GM2神经节苷质病，B，B1变型 |
| tr | Tay-Sachs hastalığı | Hekzosaminidaz A eksikliği · GM2 gangliosidoz, B, B1 varyantı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272800 | E | validated | |
| ICD-10 | E75.0 | NTBT | inclusion | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0010100 | E | validated | |
| MeSH | D013661 | E | validated | |
| UMLS | C0039373 | E | validated | |
| GARD | 7737 | E | validated | |
| MedDRA | 10043147 | 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 (4):
- ORPHA:98544Cerebral lipidosis with dementia
rare genetic diseases; rare neurological diseases - ORPHA:309152GM2 gangliosidosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:309239OBSOLETE: Tay-Sachs disease, B1 variant referred to · inactive
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HEXA | ORPHA:309178Tay-Sachs disease, infantile form | Disease-causing germline mutation(s) in | Assessed | HGNC:4878 | ENSG00000213614 | 606869 | 15q23 | hexosaminidase subunit alpha | |
| HEXA | ORPHA:309185Tay-Sachs disease, juvenile form | Disease-causing germline mutation(s) in | Assessed | HGNC:4878 | ENSG00000213614 | 606869 | 15q23 | hexosaminidase subunit alpha | |
| HEXA | ORPHA:309192Tay-Sachs disease, adult form | Disease-causing germline mutation(s) in | Assessed | HGNC:4878 | ENSG00000213614 | 606869 | 15q23 | hexosaminidase subunit alpha |
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Prevalence and incidence
14 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 27.8 / 100 000 | Specific population | Value and class | Validated | 20301397[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.5 / 100 000 | Specific population | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.13 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 / 100 000 | Worldwide | Value and class | Validated | ISBN:0870684507[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.41 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | Canada | Value and class | Validated | 10617747[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 / 100 000 | United Arab Emirates | Value and class | Validated | 23430803[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 / 100 000 | Turkey | Value and class | Validated | 15275696[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
69 annotations · validated 2021-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0010969 | Abnormality of glycolipid metabolism | Diagnostic criterion |
| HP:0003495 | GM2-ganglioside accumulation | Diagnostic criterion |
| HP:0001324 | Muscle weakness | |
| HP:0002191 | Progressive spasticity | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0000708 | Atypical behavior | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0002312 | Clumsiness | |
| HP:0002376 | Developmental regression | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002380 | Fasciculations | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0002171 | Gliosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0007103 | Hypointensity of cerebral white matter on MRI | |
| HP:0002311 | Incoordination | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002172 | Postural instability | |
| HP:0009050 | Quadriceps muscle atrophy | |
| HP:0000736 | Short attention span | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0001344 | Absent speech | |
| HP:0011448 | Ankle clonus | |
| HP:0000739 | Anxiety | |
| HP:0000618 | Blindness | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000716 | Depression | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0002307 | Drooling | |
| HP:0001310 | Dysmetria | |
| HP:0001332 | Dystonia | |
| HP:0002267 | Exaggerated startle response | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0004302 | Functional motor deficit | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002283 | Global brain atrophy | |
| HP:0012515 | Hip flexor weakness | |
| HP:0002540 | Inability to walk | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0001377 | Limited elbow extension | |
| HP:0003066 | Limited knee extension | |
| HP:0100754 | Mania | |
| HP:0002354 | Memory impairment | |
| HP:0001336 | Myoclonus | |
| HP:0000648 | Optic atrophy | |
| HP:0004481 | Progressive macrocephaly | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0001337 | Tremor | |
| HP:0011147 | Typical absence seizure | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0025013 | Decerebrate rigidity | |
| HP:0000365 | Hearing impairment | |
| HP:0003333 | Increased serum beta-hexosaminidase | |
| HP:0000826 | Precocious puberty | |
| HP:0031358 | Vegetative state | |
| Excluded (0%) | ||
| HP:0001433 | Hepatosplenomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301397[PMID]_30038128[PMID]_29943104[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/845
- This record as JSON: /data/d/845.json