| Descriptor English: | Sandhoff Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Sandhoff
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| Descriptor Portuguese: | Doença de Sandhoff | ||||||
| Descriptor French: | Maladie de Sandhoff | ||||||
| Entry term(s): |
Adult Sandhoff Disease Deficiencies, Total Hexosaminidase Deficiencies, beta-Hexosaminidase-beta-Subunit Deficiency Disease, Hexosaminidase A and B Deficiency, Total Hexosaminidase Deficiency, beta-Hexosaminidase-beta-Subunit Disease, Sandhoff-Jatzkewitz-Pilz G(M2) Gangliosidosis, Type II GM2 Gangliosidosis, Type 2 GM2 Gangliosidosis, Type II GM2-Gangliosidoses, Type II GM2-Gangliosidosis, Type II Gangliosidosis G(M2), Type II Gangliosidosis GM2, Type II Hexosaminidase A and B Deficiency Disease Hexosaminidase Deficiencies, Total Hexosaminidase Deficiency, Total Hexosaminidases A And B Deficiency Infantile Sandhoff Disease Juvenile Sandhoff Disease Sandhoff Disease, Adult Sandhoff Disease, Adult Type Sandhoff Disease, Infantile Sandhoff Disease, Infantile Type Sandhoff Disease, Juvenile Sandhoff Disease, Juvenile Type Sandhoff Jatzkewitz Pilz Disease Sandhoff's Disease Sandhoff-Jatzkewitz-Pilz Disease Sandhoffs Disease Total Hexosaminidase Deficiencies Total Hexosaminidase Deficiency Type II GM2-Gangliosidoses Type II GM2-Gangliosidosis beta Hexosaminidase beta Subunit Deficiency beta-Hexosaminidase-beta-Subunit Deficiencies beta-Hexosaminidase-beta-Subunit Deficiency |
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| Tree number(s): |
C10.228.140.163.100.435.825.300.300.249 C16.320.565.189.435.825.300.300.249 C16.320.565.398.641.803.350.300.700 C16.320.565.595.554.825.300.300.800 C18.452.132.100.435.825.300.300.249 C18.452.584.563.641.803.350.300.700 C18.452.648.189.435.825.300.300.249 C18.452.648.398.641.803.350.300.700 C18.452.648.595.554.825.300.300.800 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D012497 | ||||||
| Scope note: | An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
G(M2) Ganglioside (1975-1978) Gangliosides (1966-1978) Gangliosidosis (1976-1978) Hexosaminidases (1971-1978) Lipoidosis (1966-1978) Sphingolipidosis (1974-1978) |
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| Public MeSH Note: | 1979 |
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| History Note: | 1979 |
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| Entry Version: | SANDHOFF DIS |
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| Related: |
beta-N-Acetylhexosaminidases
MeSH | ||||||
| DeCS ID: | 12873 | ||||||
| Unique ID: | D012497 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1979/01/01 | ||||||
| Date of Entry: | 1978/05/22 | ||||||
| Revision Date: | 2015/06/23 |
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|
Sandhoff Disease
- Preferred
Infantile Sandhoff Disease
- Narrower
Total Hexosaminidase Deficiency
- Related but not broader or narrower
Juvenile Sandhoff Disease
- Narrower
Adult Sandhoff Disease
- Narrower
| Concept UI |
M0019413 |
| Scope note | An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. |
| Preferred term | Sandhoff Disease |
| Entry term(s) |
Deficiency Disease, Hexosaminidase A and B Disease, Sandhoff-Jatzkewitz-Pilz G(M2) Gangliosidosis, Type II GM2 Gangliosidosis, Type 2 GM2 Gangliosidosis, Type II GM2-Gangliosidoses, Type II GM2-Gangliosidosis, Type II Gangliosidosis G(M2), Type II Gangliosidosis GM2, Type II Hexosaminidase A and B Deficiency Disease Hexosaminidases A And B Deficiency Sandhoff Jatzkewitz Pilz Disease Sandhoff's Disease Sandhoff-Jatzkewitz-Pilz Disease Sandhoffs Disease Type II GM2-Gangliosidoses Type II GM2-Gangliosidosis |
| Concept UI |
M0335922 |
| Preferred term | Infantile Sandhoff Disease |
| Entry term(s) |
Sandhoff Disease, Infantile Sandhoff Disease, Infantile Type |
| Concept UI |
M0536397 |
| Preferred term | Total Hexosaminidase Deficiency |
| Entry term(s) |
Deficiencies, Total Hexosaminidase Deficiencies, beta-Hexosaminidase-beta-Subunit Deficiency, Total Hexosaminidase Deficiency, beta-Hexosaminidase-beta-Subunit Hexosaminidase Deficiencies, Total Hexosaminidase Deficiency, Total Total Hexosaminidase Deficiencies beta Hexosaminidase beta Subunit Deficiency beta-Hexosaminidase-beta-Subunit Deficiencies beta-Hexosaminidase-beta-Subunit Deficiency |
| Concept UI |
M0335923 |
| Preferred term | Juvenile Sandhoff Disease |
| Entry term(s) |
Sandhoff Disease, Juvenile Sandhoff Disease, Juvenile Type |
| Concept UI |
M0335921 |
| Preferred term | Adult Sandhoff Disease |
| Entry term(s) |
Sandhoff Disease, Adult Sandhoff Disease, Adult Type |
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