MCID: SND001
MIFTS: 57

Sandhoff Disease malady

Summaries for Sandhoff Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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 gangliosidosis. 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 brain, spinal cord and liver, 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:42 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:63 Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or... more...

Description from OMIM:46 268800

Aliases & Classifications for Sandhoff Disease

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 39NCIt, 56SNOMED-CT, 46OMIM, 34MeSH
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Aliases & Descriptions:

sandhoff disease 8 63 42 20 22 21 43 10 44 30 60
beta-hexosaminidase-beta-subunit deficiency 42 21
hexosaminidase a and b deficiency disease 42 21
sandhoff-jatzkewitz-pilz disease 42 21
total hexosaminidase deficiency 42 21
gm2 gangliosidosis, type 2 42 21
b variant of the hexosaminidase gm2 gangliosidosis 63
gm2 gangliosidosis, type ii 21
sandhoff jatzkewitz disease 8
gangliosidoses, gm2 60


External Ids:

Disease Ontology8 DOID:3323
NCIt39 C85052
SNOMED-CT56 23849003
OMIM46 268800
MeSH34 D012497

Related Diseases for Sandhoff Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sandhoff Disease:



Diseases related to sandhoff disease

Clinical Features for Sandhoff Disease

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46OMIM
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Clinical features from OMIM:

268800

Drugs & Therapeutics for Sandhoff Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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

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20GeneTests, 22GTR
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Genetic tests related to Sandhoff Disease:

id Genetic test Affiliating Genes
1 Sandhoff Disease20 22 HEXB

Anatomical Context for Sandhoff Disease

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32MalaCards
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MalaCards organs/tissues related to Sandhoff Disease:

32
Brain, Spinal cord, Liver, Eye, Spleen, Bone, Testes, Bone marrow, Retina, B cells, Endothelial, Dorsal root ganglion

Animal Models for Sandhoff Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sandhoff Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9PTGDS, GM2A, UGCG, ARSA, NPC1, HEXB

Publications for Sandhoff Disease

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50PubMed
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Articles related to Sandhoff Disease:

(show top 50)    (show all 162)
idTitleAuthorsYear
1
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. (23759947)
2013
2
Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice. (23417430)
2013
3
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. (24263030)
2013
4
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. (22848519)
2012
5
A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation. (22191674)
2012
6
Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats. (21398459)
2011
7
Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization. (20873083)
2010
8
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. (20695991)
2010
9
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice. (20374428)
2010
10
A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease. (21150067)
2010
11
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. (20798201)
2010
12
Abnormal production of macrophage inflammatory protein-1alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice. (19302485)
2009
13
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
14
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. (18758829)
2009
15
A novel HEXB mutation and its structural effects in juvenile Sandhoff disease. (18930675)
2008
16
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. (18207611)
2008
17
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. (16872651)
2007
18
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice. (16521125)
2006
19
Metabolic correction in microglia derived from Sandhoff disease model mice. (16092933)
2005
20
Impaired neurite outgrowth in the retina of a murine model of Sandhoff disease. (16123447)
2005
21
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. (15155903)
2004
22
Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. (15345116)
2004
23
Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. (15262262)
2004
24
Sandhoff disease (GM2 gangliosidoses) in a premature patient with bronchopulmonary dysplasia. (23978972)
2002
25
Sandhoff disease (GM2 Gangliosidoses) in a premature patient with bronchopulmonary dysplasia. (12070592)
2002
26
Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]. (11433765)
2001
27
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease. (11292324)
2001
28
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease. (9888387)
1999
29
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
30
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice. (9576752)
1998
31
A Pro504 --> Ser substitution in the beta-subunit of beta- hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. (9694901)
1998
32
A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells. (7588966)
1995
33
A novel missense mutation (C522Y) is present in the beta- hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. (7626071)
1995
34
Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus. (8045559)
1994
35
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain. (1975561)
1990
36
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
37
A case of combined Farber and Sandhoff disease. (2744019)
1989
38
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. (2955697)
1987
39
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). (3017984)
1986
40
In vitro establishment of human fibroblasts of lysosomal diseases, GM1-gangliosidosis and Sandhoff disease, by transformation with origin-minus SV40 DNA. (2990594)
1985
41
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
42
Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease). (3002784)
1985
43
The fine structure of cytoplasmic inclusions in brain and other visceral organs in Sandhoff disease. (6097133)
1984
44
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique. (6852822)
1983
45
Sandhoff disease. (7270152)
1981
46
Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease. (463876)
1979
47
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. (559267)
1977
48
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). (808963)
1975
49
Sandhoff disease: impaired catabolism of sulfated glycosaminoglycans in cultured fibroblasts. (127630)
1975
50
Pathologic findings in Sandhoff disease. (4743893)
1973

Genetic Variations for Sandhoff Disease

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Expression for genes affiliated with Sandhoff Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sandhoff Disease

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Pathways for genes affiliated with Sandhoff Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Sandhoff Disease

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Sandhoff Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4410.2HEXA, HEXB
2jw 4805910.2HEXA, HEXB
3flurofamide5910.2HEXA, HEXB
4thiamet g5910.2HEXA, HEXB
5(z)-pugnac5910.2HEXA, HEXB
6wwl 705910.2HEXA, HEXB
7cerebroside4410.1ARSA, HEXA
8deae-cellulose4410.1HEXB, HEXA
9N-Acetyl-D-glucosamine11 2411.1HEXA, HEXB
10sulfatide449.9GM2A, ARSA
11n-acetylglucosamine449.8HEXA, HEXB, ARSA
12phytosphingosine44 2410.7GBA2, GM2A
13sphingosine 1-phosphate28 2410.7GM2A, GBA2
14mannose449.7ARSA, HEXB, HEXA
15glycosphingolipid449.7UGCG, ARSA
16sphinganine 1-phosphate44 2410.6GM2A, GBA2
17dihydroceramide44 2410.5UGCG, GBA2, GM2A
18glucosylceramide44 2410.5GM2A, GBA2, UGCG
19sphinganine44 2410.4GM2A, GBA2
20sphingosine44 11 2411.4GM2A, GBA2, UGCG
21mannose 6-phosphate44 2410.2GM2A, ARSA, NPC1, HEXB, HEXA
22glycolipid449.0HEXA, HEXB, NPC1, UGCG, GM2A
23ganglioside448.7GM2A, UGCG, ARSA, NPC1, HEXB, HEXA
24lipid448.4HEXA, NPC1, ARSA, UGCG, GM2A, PTGDS

GO Terms for genes affiliated with Sandhoff Disease

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16Gene Ontology
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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

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Sources for Sandhoff Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet