ORPHA:309162
Sandhoff disease, juvenile form
Synonyms: Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
This disease is described under Sandhoff disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandhoff disease, juvenile form | Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form |
| fr | Maladie de Sandhoff juvénile | Déficit en sous-unité bêta-hexosaminidase bêta, forme juvénile · Gangliosidose à GM2, variant Sandhoff, forme juvénile · Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme juvénile |
| de | Sandhoff-Krankheit, juvenile Form | Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, juvenile Form · GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, juvenile Form · GM2-Gangliosidose, Sandhoff-Variante, juvenile Form |
| es | Enfermedad de Sandhoff, forma juvenil | Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma juvenil · Gangliosidosis GM2, variante de Sandhoff, forma juvenil · Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma juvenil |
| it | Malattia di Sandhoff, forma giovanile | Deficit della subunità beta della esosaminidasi beta, forma giovanile · Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma giovanile · Gangliosidosi GM2, variante di Sandhoff, forma giovanile |
| nl | Ziekte van Sandhoff, juveniele vorm | Deficiëntie van bèta-hexosaminidase subeenheid bèta, juveniele vorm · GM2-gangliosidose, Sandhoff-variant, juveniele vorm · GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, juveniele vorm |
| pt | Doença Sandhoff, forma juvenil | Deficiência da subunidade beta da beta-hexosaminidase, forma juvenil · Gangliosidose GM2, variante Sandhoff, forma juvenil · Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma juvenil |
| pl | Choroba Sandhoffa, postać młodzieńcza | Gangliozydoza młodzieńcza GM2 wariant 0 · Niedobór heksozoaminidazy A i B, postać młodzieńcza |
| cs | Sandhoffova nemoc, juvenilní forma | Deficit hexosaminidázy A a B, juvenilní forma · Juvenilní GM2 gangliosidóza, varianta 0 |
| uk | Хвороба Сандхоффа, ювенільна форма | Дефіцит бета-субодиниці бета-гексозамінідази, ювенільна форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, ювенільна форма · GM2 гангліозидоз, варіант Сандхоффа, ювенільна форма |
| zh | 青少年型桑霍夫病 | 青少年型己糖胺酶A和B缺乏 |
| tr | Sandhoff hastalığı, genç formu | Jüvenil GM2 gangliosidoz 0 varyantı · Hekzosaminidaz A ve B eksikliği, jüvenil 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 | 0017722 | E | validated | |
| UMLS | C0751491 | 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] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
26 annotations · validated 2022-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0033978 | Reduced beta-hexosaminidase activity | |
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0002311 | Incoordination | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0031006 | Acroparesthesia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002019 | Constipation | |
| HP:0002014 | Diarrhea | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0002380 | Fasciculations | |
| HP:0100785 | Insomnia | |
| HP:0003121 | Limb joint contracture | |
| HP:0001250 | Seizure | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0100786 | Hypersomnia | |
| HP:0001761 | Pes cavus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17015493[PMID]_15159655[PMID]_28895707[PMID]_34217565[PMID]_
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309162
- This record as JSON: /data/d/309162.json