MCID: SND001
MIFTS: 56

Sandhoff Disease malady

Summaries for Sandhoff Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:44 Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme , which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen.

MalaCards: Sandhoff Disease, also known as beta-hexosaminidase-beta-subunit deficiency, is related to tay-sachs disease and brain disease. An important gene associated with Sandhoff Disease is HEXB (hexosaminidase B (beta polypeptide)), and among its related pathways are Keratan sulfate biosynthesis and Glycosaminoglycan degradation. The compounds g(m2) ganglioside and jw 480 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain, and related mouse phenotype behavior/neurological.

Genetics Home Reference:21 Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases:43 Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. the most common and severe form of sandhoff disease becomes apparent in infancy. infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. other forms of sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. these forms are very rare. sandhoff disease is caused by mutations in the hexb gene. these mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. sandhoff disease is inherited in an autosomal recessive manner.  last updated: 10/19/2011

Wikipedia:64 Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or... more...

Description from OMIM:47 268800

Aliases & Classifications for Sandhoff Disease

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 40NCIt, 57SNOMED-CT, 47OMIM, 35MeSH
See all sources

Aliases & Descriptions:

sandhoff disease 8 64 43 20 22 21 44 10 45 31 61
beta-hexosaminidase-beta-subunit deficiency 43 21
hexosaminidase a and b deficiency disease 43 21
sandhoff-jatzkewitz-pilz disease 43 21
total hexosaminidase deficiency 43 21
gm2 gangliosidosis, type 2 43 21
b variant of the hexosaminidase gm2 gangliosidosis 64
gm2 gangliosidosis, type ii 21
sandhoff jatzkewitz disease 8
gangliosidoses, gm2 61


External Ids:

Disease Ontology8 DOID:3323
NCIt40 C85052
SNOMED-CT57 23849003
OMIM47 268800
MeSH35 D012497

Related Diseases for Sandhoff Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Sandhoff Disease:



Diseases related to sandhoff disease

Clinical Features for Sandhoff Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

268800

Drugs & Therapeutics for Sandhoff Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sandhoff Disease

Drug clinical trials:

Search ClinicalTrials for Sandhoff Disease

Search NIH Clinical Center for Sandhoff Disease

Search CenterWatch for Sandhoff Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Sandhoff Disease cell therapies at LifeMap Discovery.

Genetic Tests for Sandhoff Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Sandhoff Disease:

id Genetic test Affiliating Genes
1 Sandhoff Disease20 22 HEXB

Anatomical Context for Sandhoff Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Sandhoff Disease:

33
Bone marrow, Spleen, Brain, Retina, Spinal cord, Liver, B cells, Endothelial, Fetal brain, Dorsal root ganglion, Fetal liver

Animal Models for Sandhoff Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Sandhoff Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9PTGDS, GM2A, UGCG, ARSA, NPC1, HEXB

Publications for Sandhoff Disease

Sources:
51PubMed
See all sources

Articles related to Sandhoff Disease:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. (23689599)
2013
2
Characterization of the mutant I^-subunit of I^-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. (23127958)
2013
3
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. (22848519)
2012
4
Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis. (21598013)
2011
5
Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization. (20873083)
2010
6
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. (20695991)
2010
7
Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease. (20571546)
2010
8
Miglustat therapy in juvenile Sandhoff disease. (19898953)
2009
9
Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease. (19145603)
2009
10
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine. (17625939)
2008
11
Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matrix coating system and its application to analysis of lipids in brain from a mouse model of Tay-Sachs/Sandhoff disease. (18314967)
2008
12
Involvement of retinal neurons and pigment epithelial cells in a murine model of sandhoff disease. (18437034)
2008
13
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. (16872651)
2007
14
Basal ganglia changes: a diagnostic clue to Sandhoff disease. (17079839)
2006
15
Dysautonomic achalasia in two siblings with Sandhoff disease. (16352312)
2006
16
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice. (16880605)
2006
17
Pre-embryonic diagnosis for Sandhoff disease. (16569321)
2006
18
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease. (16206131)
2005
19
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. (15198669)
2004
20
GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. (15623087)
2004
21
Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. (12756243)
2003
22
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease. (12887594)
2003
23
Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease. (12682727)
2003
24
Sandhoff disease in an extreme preterm baby with bilateral syndactyly. (12754550)
2003
25
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. (11880123)
2002
26
Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]. (11433765)
2001
27
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. (11133779)
2001
28
Sandhoff disease--a case report of 3 siblings and a review of potential therapies. (11056783)
2000
29
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. (10339597)
1999
30
Two mutations remote from an exon/intron junction in the beta- hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease. (9856491)
1998
31
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
32
Sandhoff disease in the Turkish population. (9408593)
1997
33
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. (8950198)
1996
34
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. (7550345)
1995
35
White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. (7677013)
1995
36
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. (7557963)
1995
37
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. (8162015)
1994
38
Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). (8178934)
1994
39
Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. (2522450)
1989
40
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. (2948136)
1987
41
Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. (4040927)
1985
42
Characterization and analysis of branched-chain N-acetylglucosaminyl oligosaccharides accumulating in Sandhoff disease tissue. Evidence that biantennary bisected oligosaccharide side chains of glycoproteins are abundant substrates for lysosomes. (3997819)
1985
43
The fine structure of cytoplasmic inclusions in brain and other visceral organs in Sandhoff disease. (6097133)
1984
44
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. (7468596)
1981
45
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
46
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. (559267)
1977
47
Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O). (412673)
1977
48
Patterns of complex carbohydrate storage in four lysosomal storage diseases: fucosidosis, GM1-gangliosidosis, GM2-gangliosidosis (Sandhoff variant) and mannosidosis. (418790)
1977
49
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay. (826357)
1976
50
Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase. (4279821)
1974

Genetic Variations for Sandhoff Disease

Expression for genes affiliated with Sandhoff Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sandhoff Disease

Search GEO for disease gene expression data for Sandhoff Disease.

Pathways for genes affiliated with Sandhoff Disease

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Sandhoff Disease

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Sandhoff Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4510.2HEXA, HEXB
2jw 4806010.2HEXA, HEXB
3flurofamide6010.2HEXA, HEXB
4thiamet g6010.2HEXA, HEXB
5(z)-pugnac6010.2HEXA, HEXB
6wwl 706010.2HEXA, HEXB
7cerebroside4510.1ARSA, HEXA
8deae-cellulose4510.1HEXB, HEXA
9N-Acetyl-D-glucosamine11 2411.1HEXA, HEXB
10sulfatide459.9GM2A, ARSA
11n-acetylglucosamine459.8HEXA, HEXB, ARSA
12phytosphingosine45 2410.7GBA2, GM2A
13sphingosine 1-phosphate29 2410.7GM2A, GBA2
14mannose459.7ARSA, HEXB, HEXA
15glycosphingolipid459.7UGCG, ARSA
16sphinganine 1-phosphate45 2410.6GM2A, GBA2
17dihydroceramide45 2410.5UGCG, GBA2, GM2A
18glucosylceramide45 2410.5GM2A, GBA2, UGCG
19sphinganine45 2410.4GM2A, GBA2
20sphingosine45 11 2411.4GM2A, GBA2, UGCG
21mannose 6-phosphate45 2410.2GM2A, ARSA, NPC1, HEXB, HEXA
22glycolipid459.0HEXA, HEXB, NPC1, UGCG, GM2A
23ganglioside458.7GM2A, UGCG, ARSA, NPC1, HEXB, HEXA
24lipid458.4HEXA, NPC1, ARSA, UGCG, GM2A, PTGDS

GO Terms for genes affiliated with Sandhoff Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Sandhoff Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.4GM2A, ARSA, NPC1
2lysosomal lumenGO:0432028.9GM2A, ARSA, HEXB, HEXA

Biological processes related to Sandhoff Disease according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:04234010.1HEXB, HEXA
2hyaluronan catabolic processGO:03021410.1HEXA, HEXB
3oligosaccharide catabolic processGO:00931310.1HEXB, GM2A
4chondroitin sulfate catabolic processGO:03020710.1HEXA, HEXB
5hyaluronan metabolic processGO:03021210.1HEXB, HEXA
6lysosome organizationGO:00704010.0HEXA, HEXB
7keratan sulfate metabolic processGO:04233910.0HEXB, HEXA
8adult walking behaviorGO:0076289.9NPC1, HEXA
9myelinationGO:0425529.9HEXB, HEXA
10ganglioside catabolic processGO:0066899.9HEXA, HEXB, GM2A
11lipid storageGO:0199159.8GM2A, HEXB, HEXA
12neuromuscular process controlling balanceGO:0508859.8GM2A, HEXB, HEXA
13cell deathGO:0082199.7GBA2, HEXB, HEXA
14bile acid metabolic processGO:0082069.6NPC1, GBA2
15chondroitin sulfate metabolic processGO:0302049.6HEXB, HEXA
16carbohydrate metabolic processGO:0059759.1HEXB, HEXDC, HEXA
17glycosphingolipid metabolic processGO:0066878.6GM2A, GBA2, UGCG, ARSA, HEXB, HEXA
18sphingolipid metabolic processGO:0066658.6HEXA, HEXB, ARSA, UGCG, GBA2, GM2A
19small molecule metabolic processGO:0442818.1HEXA, HEXB, ARSA, UGCG, GBA2, GM2A

Molecular functions related to Sandhoff Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-N-acetylhexosaminidase activityGO:0045638.7GM2A, HEXB, HEXDC, HEXA

Products for genes affiliated with Sandhoff Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sandhoff Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet