ORPHA:309155
Sandhoff disease, infantile form
Synonyms: Beta-hexosaminidase subunit beta deficiency, infantile form · GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
This disease is described under Sandhoff disease
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandhoff disease, infantile form | Beta-hexosaminidase subunit beta deficiency, infantile form · GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form |
| fr | Maladie de Sandhoff infantile | Déficit en sous-unité bêta-hexosaminidase bêta, forme infantile · Gangliosidose à GM2, variant Sandhoff, forme infantile · Gangliosidose à GM2, variant déficit en hexosaminidase A et B, forme infantile |
| de | Sandhoff-Krankheit, infantile Form | Beta-Untereinheit-Defizienz der Beta-Hexosaminidase, infantile Form · GM2-Gangliosidose, Hexosaminidase-A/B-Mangel Variante, infantile Form · GM2-Gangliosidose, Sandhoff-Variante, infantile Form |
| es | Enfermedad de Sandhoff, forma infantil | Deficiencia de la subunidad beta de la beta-hexosaminidasa, forma infantil · Gangliosidosis GM2, variante de Sandhoff, forma infantil · Gangliosidosis GM2, variante deficiencia de hexosaminidasa A y B, forma infantil |
| it | Malattia di Sandhoff, forma infantile | Deficit della subunità beta della esosaminidasi beta, forma infantile · Gangliosidosi GM2, variante deficit di esosaminidasi A e B, forma infantile · Gangliosidosi GM2, variante di Sandhoff, forma infantile |
| nl | Ziekte van Sandhoff, infantiele vorm | Deficiëntie van bèta-hexosaminidase subeenheid bèta, infantiele vorm · GM2-gangliosidose, Sandhoff-variant, infantiele vorm · GM2-gangliosidose, variant met deficiëntie van hexosaminidase A en B, infantiele vorm |
| pt | Doença Sandhoff, forma da infância | Deficiência da subunidade beta da beta-hexosaminidase, forma da infância · Gangliosidose GM2, variante Sandhoff, forma da infância · Gangliosidose GM2, variante com deficiência de hexosaminidase A e B, forma da infância |
| pl | Choroba Sandhoffa, postać niemowlęca | Gangliozydoza dziecięca GM2 wariant 0 · Niedobór heksozoaminidazy A i B, postać niemowlęca |
| cs | Sandhoffova nemoc, infantilní forma | Deficit hexosaminidázy A a B, infantilní forma · Infantilní GM2 gangliosidóza, varianta 0 |
| uk | Хвороба Сандхоффа, інфантильна форма | Дефіцит бета-субодиниці бета-гексозамінідази, дитяча форма · GM2 гангліозидоз, варіант дефіциту гексозамінідази А і В, дитяча форма · GM2 гангліозидоз, варіант Сандхоффа, інфантильна форма |
| zh | 婴儿型桑德霍夫病 | 婴儿型己糖胺酶A和B缺乏 |
| tr | Sandhoff hastalığı, infantil form | İnfantil GM2 gangliosidoz 0 varyantı · Hekzosaminidaz A ve B eksikliği, infantil form |
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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 | 0017721 | E | validated | |
| UMLS | C0751490 | 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:796Sandhoff 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 |
|---|---|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
23 annotations · validated 2022-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0033978 | Reduced beta-hexosaminidase activity | |
| Very frequent (99-80%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0002376 | Developmental regression | |
| HP:0001347 | Hyperreflexia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0003429 | CNS hypomyelination | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0002267 | Exaggerated startle response | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0032794 | Myoclonic seizure | |
| HP:0001336 | Myoclonus | |
| HP:0004481 | Progressive macrocephaly | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0100814 | Blue nevus | |
| HP:0000280 | Coarse facial features | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0010780 | Hyperacusis | |
| HP:0001653 | Mitral regurgitation | |
| Very rare (<4-1%) | ||
| HP:0001634 | Mitral valve prolapse | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 35420740[PMID]_33407268[PMID]_30075786[PMID]_31919734[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309155
- This record as JSON: /data/d/309155.json