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


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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, Spleen, Eye, Bone, Bone marrow, Testes, B cells, Endothelial, Retina, 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
Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease. (23383290)
2013
2
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. (23689599)
2013
3
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (22766310)
2012
4
Conditional expression of human I^-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation. (22863301)
2012
5
Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-I^ peptide. (22496568)
2012
6
Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis. (21598013)
2011
7
Prostaglandin E2 reverses aberrant production of an inflammatory chemokine by microglia from Sandhoff disease model mice through the cAMP-PKA pathway. (21298000)
2011
8
Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice. (20458542)
2010
9
Substrate deprivation therapy in juvenile Sandhoff disease. (19898952)
2009
10
Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. (19034545)
2009
11
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine. (17625939)
2008
12
Early deficits in motor coordination and cognitive dysfunction in a mouse model of the neurodegenerative lysosomal storage disorder, Sandhoff disease. (18611415)
2008
13
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. (17557860)
2007
14
Juvenile Sandhoff disease--nine new cases and a review of the literature. (15159655)
2004
15
GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. (15623087)
2004
16
The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (12706724)
2003
17
Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease. (12682727)
2003
18
Sandhoff disease in an extreme preterm baby with bilateral syndactyly. (12754550)
2003
19
Sandhoff disease in an extreme preterm baby with bilateral syndactyly. (23648890)
2003
20
Sandhoff disease in a golden retriever dog. (12227463)
2002
21
Development of infertility at young adult age in a mouse model of human Sandhoff disease. (12617783)
2002
22
Cardiac involvement in infantile Sandhoff disease. (11869411)
2002
23
Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease. (11849560)
2002
24
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. (11880123)
2002
25
Juvenile Sandhoff disease. (11175942)
2001
26
Sandhoff disease--a case report of 3 siblings and a review of potential therapies. (11056783)
2000
27
Adult Sandhoff disease presenting with chronic diarrhoea. (10234615)
1999
28
Splicing mutation causes infantile Sandhoff disease. (9475608)
1998
29
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
30
Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]. (8693300)
1996
31
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. (8789434)
1996
32
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
33
White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. (7677013)
1995
34
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease. (8535449)
1995
35
Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). (8178934)
1994
36
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection. (8076944)
1994
37
Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease? (8279657)
1993
38
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta- hexosaminidase results in a labile enzyme. (8357844)
1993
39
Lysosome disease--Sandhoff disease]. (8411702)
1993
40
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. (2147027)
1990
41
Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. (2147031)
1990
42
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. (2795083)
1989
43
Prenatal diagnosis of infantile GM 2 gangliosidosis type II (Sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography. (3809110)
1986
44
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. (4050790)
1985
45
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. (6239679)
1984
46
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
47
Carrier detection in Sandhoff disease. (414620)
1978
48
Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. (10724)
1976
49
Hexosaminidase C in Tay-Sachs and Sandhoff disease. (237554)
1975
50
Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase. (4279821)
1974

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