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Sandhoff Disease (Sandhoff's Disease)

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.
Also Known As:
Sandhoff's Disease; Adult Sandhoff Disease; Deficiency Disease, Hexosaminidase A and B; GM2 Gangliosidosis, Type 2; GM2 Gangliosidosis, Type II; GM2-Gangliosidosis, Type II; Gangliosidosis GM2, Type II; 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; Total Hexosaminidase Deficiency; beta-Hexosaminidase-beta-Subunit Deficiency; Deficiency, Total Hexosaminidase; Deficiency, beta-Hexosaminidase-beta-Subunit; Disease, Sandhoff-Jatzkewitz-Pilz; GM2-Gangliosidoses, Type II; Hexosaminidase Deficiency, Total; Sandhoff Jatzkewitz Pilz Disease; Sandhoffs Disease; Total Hexosaminidase Deficiencies; Type II GM2-Gangliosidoses; Type II GM2-Gangliosidosis; beta Hexosaminidase beta Subunit Deficiency; beta-Hexosaminidase-beta-Subunit Deficiencies; G(M2) Gangliosidosis, Type II; Gangliosidosis G(M2), Type II; Hexosaminidase A and B Deficiency Disease
Networked: 321 relevant articles (6 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Lysosomal Storage Diseases (Lysosomal Storage Disease)
2. Disease Progression
3. Neurologic Manifestations (Neurological Manifestations)
4. Tay-Sachs Disease
5. GM2 Gangliosidoses (GM2 Gangliosidosis)

Experts

1. Itoh, Kohji: 16 articles (01/2018 - 01/2005)
2. Tsuji, Daisuke: 15 articles (01/2016 - 01/2005)
3. Platt, Frances M: 14 articles (01/2021 - 08/2002)
4. Sakuraba, Hitoshi: 14 articles (01/2021 - 01/2005)
5. Yamanaka, Shoji: 11 articles (11/2021 - 03/2003)
6. Seyfried, Thomas N: 10 articles (05/2015 - 05/2006)
7. Martin, Douglas R: 9 articles (01/2021 - 03/2009)
8. Sena-Esteves, Miguel: 9 articles (01/2021 - 01/2015)
9. Cox, Timothy M: 8 articles (11/2021 - 07/2006)
10. Ogawa, Yasuhiro: 7 articles (01/2021 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sandhoff Disease:
1. Biomarkers (Surrogate Marker)IBA
2. migalastatIBA
3. Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
4. Liposomes (Liposome)IBA
5. miglustat (Zavesca)FDA Link
6. EnzymesIBA
7. beta-N-AcetylhexosaminidasesIBA
8. Hexosaminidase A (Hex A)IBA
9. GangliosidesIBA
10. LipidsIBA

Therapies and Procedures

1. Therapeutics
2. Transplantation
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Caloric Restriction
5. Off-Label Use