Sandhoff disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED GM2-GANGLIOSIDOSIS, TYPE II SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED GM2 gangliosidosis 0 variant Hexosaminidases A and B deficiency |
| Number of Symptoms | 46 |
| OrphanetNr: | 796 |
| OMIM Id: |
268800
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| ICD-10: |
E75.0 |
| UMLs: |
C0036161 |
| MeSH: |
D012497 |
| MedDRA: |
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| Snomed: |
23849003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral lipidosis with dementia
-Rare genetic disease -Rare neurologic disease GM2 gangliosidosis -Rare genetic disease -Rare neurologic disease Metabolic disease with macular cherry-red spot -Rare eye disease -Rare genetic disease Rare hereditary metabolic disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000802) | Impotence | 20 / 7739 | ||||
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(HPO:0000293) | Full cheeks | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000158) | Macroglossia | 119 / 7739 | ||||
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(HPO:0008002) | Abnormality of macular pigmentation | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0010729) | Cherry red spot of the macula | 10 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002380) | Fasciculations | 42 / 7739 | ||||
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(HPO:0007272) | Progressive psychomotor deterioration | 6 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0007256) | Abnormal pyramidal signs | 116 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001278) | Orthostatic hypotension | 24 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Occasional [Orphanet] | 113 / 7739 | |||
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(HPO:0002574) | Episodic abdominal pain | 10 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0001640) | Cardiomegaly | 81 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0006901) | Impaired thermal sensitivity | 4 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(OMIM) | High lumbar gibbus | 4 / 7739 | ||||
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(OMIM) | Impaired sweating | 4 / 7739 | ||||
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(OMIM) | Startle reaction | 4 / 7739 | ||||
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(OMIM) | Infantile muscle weakness | 4 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(MedDRA:10013578) | Dizziness postural | 4 / 7739 | ||||
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(OMIM) | Mild urinary incontinence | 4 / 7739 | ||||
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(OMIM) | Early blindness | 6 / 7739 | ||||
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(OMIM) | Doll-like face | 4 / 7739 | ||||
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(OMIM) | Hexosaminidase B beta chain deficiency | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) | Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800). |
| Diagnosis OMIM |
Lowden et al. (1978) described Sandhoff disease in a Metis kindred of northern Saskatchewan and discussed carrier detection. Chamoles et al. (2002) described methods for enzymatic detection of Tay-Sachs and Sandhoff disease in newborns using dried blood spots ... |
| Clinical Description OMIM |
Sandhoff et al. (1968) gave the initial description of the disorder that bears his name. O'Brien (1971) studied 2 Mexican-American sisters and a boy of Anglo-Saxon extraction. Most patients have been non-Jewish; however, the clinical and pathologic picture ... |
| Molecular genetics OMIM |
O'Dowd et al. (1986) concluded that the primary gene defect in the majority of Sandhoff cases is in the HEXB gene itself. They studied 5 juvenile cell lines, all of which were found to have normal or reduced ... |
| Population genetics OMIM |
Cantor and Kaback (1985) stated that the gene frequency for Sandhoff disease was about 1/1000 in Jews and 1/600 in non-Jews. Drousiotou et al. (2000) noted that in the previous 15 years, 4 patients with the ... |