ORPHA:309169
Sandhoff disease, adult form
Synonyms: Beta-hexosaminidase subunit beta deficiency, adult form · GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
This disease is described under Sandhoff disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandhoff disease, adult form | Beta-hexosaminidase subunit beta deficiency, adult form · GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form |
| fr | Maladie de Sandhoff adulte | Déficit en sous-unité bêta-hexosaminidase bêta, forme adulte · Gangliosidose à GM2, variant Sandhoff, forme adulte · Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme adulte |
| de | Sandhoff-Krankheit, adulte Form | Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, adulte Form · GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, adulte Form · GM2-Gangliosidose, Sandhoff-Variante, adulte Form |
| es | Enfermedad de Sandhoff, forma adulta | Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma adulta · Gangliosidosis GM2, variante de Sandhoff, forma adulta · Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma adulta |
| it | Malattia di Sandhoff, forma dell'adulto | Deficit della subunità beta della esosaminidasi beta, forma dell'adulto · Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma dell'adulto · Gangliosidosi GM2, variante di Sandhoff, forma dell'adulto |
| nl | Ziekte van Sandhoff, volwassen vorm | Deficiëntie van bèta-hexosaminidase subeenheid bèta, volwassen vorm · GM2-gangliosidose, Sandhoff-variant, volwassen vorm · GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, volwassen vorm |
| pt | Doença Sandhoff, forma adulta | Deficiência da subunidade beta da beta-hexosaminidase, forma adulta · Gangliosidose GM2, variante Sandhoff, forma adulta · Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma adulta |
| pl | Choroba Sandhoffa, postać dorosłych | Gangliozydoza dorosłych GM2 wariant 0 |
| cs | Sandhoffova nemoc, adultní forma | Adultní GM2 gangliosidóza, varianta 0 · Deficit hexosaminidázy A a B, adultní forma |
| uk | Хвороба Сандхоффа, доросла форма | Дефіцит бета-субодиниці бета-гексозамінідази, доросла форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, доросла форма · GM2 гангліозидоз, варіант Сандхоффа, доросла форма |
| zh | 成人型桑德霍夫病 | 成人型己糖胺酶A和B缺乏 |
| tr | Sandhoff hastalığı, yetişkin formu | Erişkin GM2 gangliosidoz 0 varyantı · Hekzosaminidaz A ve B eksikliği, erişkin formu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268800 | NTBT | validated | |
| ICD-10 | E75.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0017723 | E | validated | |
| UMLS | C0751489 | 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:796Sandhoff disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HEXB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4879 | ENSG00000049860 | 606873 | 5q13.3 | hexosaminidase subunit beta | 20798201[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
19 annotations · validated 2022-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0033978 | Reduced beta-hexosaminidase activity | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002066 | Gait ataxia | |
| HP:0001268 | Mental deterioration | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
| HP:0003484 | Upper limb muscle weakness | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0001332 | Dystonia | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002380 | Fasciculations | |
| HP:0004373 | Focal dystonia | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0003394 | Muscle spasm | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0025268 | Stuttering | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31995250[PMID]_34210542[PMID]_34856081[PMID]_30065954[PMID]_35420740[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309169
- This record as JSON: /data/d/309169.json