ORPHA:796
Sandhoff disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandhoff disease | |
| fr | Maladie de Sandhoff | Déficit en sous-unité bêta-hexosaminidase bêta |
| de | Sandhoff-Krankheit | |
| es | Enfermedad de Sandhoff | |
| it | Malattia di Sandhoff | |
| nl | Ziekte van Sandhoff | |
| pt | Doença Sandhoff | |
| pl | Choroba Sandhoffa | Gangliozydoza GM2 typ 0 · Niedobór heksozoaminidazy A i B |
| cs | Sandhoffova nemoc | GM2 gangliosidóza, varianta 0 · Deficit hexosaminidáz A a B |
| uk | Хвороба Сандхоффа | |
| zh | Sandhoff病 | 己糖胺酶A/B缺乏症 |
| tr | Sandhoff hastalığı | GM2 gangliosidosis 0 varyantı · Hekzosaminidaz A ve B eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268800 | E | validated | |
| ICD-10 | E75.0 | NTBT | inclusion | validated |
| ICD-11 | 5C56.00 | NTBT | index | validated |
| MONDO | 0010006 | E | validated | |
| MeSH | D012497 | E | validated | |
| UMLS | C0036161 | E | validated | |
| GARD | 2521 | 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 (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
4
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 |
|---|---|---|---|---|---|---|---|---|---|
| HEXB | ORPHA:309155Sandhoff disease, infantile form | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4879 | ENSG00000049860 | 606873 | 5q13.3 | hexosaminidase subunit beta | 20798201[PMID] |
| HEXB | ORPHA:309162Sandhoff disease, juvenile form | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4879 | ENSG00000049860 | 606873 | 5q13.3 | hexosaminidase subunit beta | 20798201[PMID] |
| HEXB | ORPHA:309169Sandhoff disease, adult form | 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
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.49 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 / 100 000 | Turkey | Value and class | Validated | 15275696[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | United States | Value and class | Validated | 2955697[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004343 | Abnormal glycosphingolipid metabolism | |
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0000618 | Blindness | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| HP:0002808 | Kyphosis | |
| HP:0000256 | Macrocephaly | |
| HP:0002333 | Motor deterioration | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000293 | Full cheeks | |
| HP:0002240 | Hepatomegaly | |
| HP:0001324 | Muscle weakness | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0002652 | Skeletal dysplasia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/796
- This record as JSON: /data/d/796.json