MCID: SND001
MIFTS: 65

Sandhoff Disease malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases categories
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Summaries for Sandhoff Disease

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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 based summary: Sandhoff Disease, also known as beta-hexosaminidase-beta-subunit deficiency, is related to gangliosidosis and motor neuron disease. An important gene associated with Sandhoff Disease is HEXB (hexosaminidase B (beta polypeptide)), and among its related pathways are Glycosaminoglycan degradation and Keratan sulfate/keratin metabolism. The compounds g(m2) ganglioside and Ganglioside GA2 (d18:1/22:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related mouse phenotypes are homeostasis/metabolism and nervous system.

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:65 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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Sandhoff Disease, Aliases & Descriptions:

Name: Sandhoff Disease 30 8 65 42 20 22 21 43 10 44 62
Beta-Hexosaminidase-Beta-Subunit Deficiency 42 21 62
Sandhoff-Jatzkewitz-Pilz Disease 42 21 62
Total Hexosaminidase Deficiency 42 21 62
Hexosaminidase a and B Deficiency Disease 42 21
 
Sandhoff Jatzkewitz Disease 8 62
Gm2 Gangliosidosis, Type 2 42 21
B Variant of the Hexosaminidase Gm2 Gangliosidosis 65
Gm2 Gangliosidosis, Type Ii 21


Classifications:



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Disease Ontology8 DOID:3323
NCIt39 C85052
SNOMED-CT57 23849003
OMIM46 268800
MeSH34 D012497

Related Diseases for Sandhoff Disease

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



Diseases related to sandhoff disease

Symptoms for Sandhoff Disease

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Clinical features from OMIM:

268800

Drugs & Therapeutics for Sandhoff Disease

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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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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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MalaCards organs/tissues related to Sandhoff Disease:

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

Animal Models for Sandhoff Disease or affiliated genes

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MGI Mouse Phenotypes related to Sandhoff Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8UGCG, PTGDS, HEXA, HEXB, NPC1, ARSA
2MP:00036317.6ARSA, NPC1, GM2A, HEXB, HEXA, UGCG
3MP:00053867.3HEXB, HEXA, UGCG, GM2A, NPC1, ARSA

Publications for Sandhoff Disease

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Articles related to Sandhoff Disease:

(show top 50)    (show all 154)
idTitleAuthorsYear
1
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (22766310)
2012
2
A case report of Sandhoff disease. (21153386)
2011
3
Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice. (20458542)
2010
4
Abnormal production of macrophage inflammatory protein-1alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice. (19302485)
2009
5
Substrate deprivation therapy in juvenile Sandhoff disease. (19898952)
2009
6
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
7
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. (16872651)
2007
8
Basal ganglia changes: a diagnostic clue to Sandhoff disease. (17079839)
2006
9
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice. (16521125)
2006
10
Dysautonomic achalasia in two siblings with Sandhoff disease. (16352312)
2006
11
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease. (16206131)
2005
12
Metabolic correction in microglia derived from Sandhoff disease model mice. (16092933)
2005
13
Impaired neurite outgrowth in the retina of a murine model of Sandhoff disease. (16123447)
2005
14
A case refort of Sandhoff disease. (15929490)
2005
15
Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. (15748167)
2005
16
Juvenile Sandhoff disease--nine new cases and a review of the literature. (15159655)
2004
17
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. (15198669)
2004
18
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
19
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease. (12887594)
2003
20
Sandhoff disease in a golden retriever dog. (12227463)
2002
21
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. (12019216)
2002
22
Development of infertility at young adult age in a mouse model of human Sandhoff disease. (12617783)
2002
23
Cardiac involvement in infantile Sandhoff disease. (11869411)
2002
24
Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]. (11433765)
2001
25
Neuroimaging findings of four patients with Sandhoff disease. (10465144)
1999
26
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
27
Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease. (9385467)
1997
28
Sandhoff disease in the Turkish population. (9408593)
1997
29
Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]. (8693300)
1996
30
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. (8789434)
1996
31
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. (7550345)
1995
32
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease). (8119549)
1994
33
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. (8162015)
1994
34
Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus. (8045559)
1994
35
Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease? (8279657)
1993
36
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease. (1487253)
1992
37
Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. (1532910)
1992
38
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
39
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. (2795083)
1989
40
Thalamic hyperdensity: a previously unreported sign of Sandhoff disease. (2505588)
1989
41
Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease? (3612128)
1987
42
Diagnosis and characterization of GM 2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography. (3955841)
1986
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: 36 cases from Cordoba, Argentina. (3157833)
1985
45
In vitro establishment of human fibroblasts of lysosomal diseases, GM1-gangliosidosis and Sandhoff disease, by transformation with origin-minus SV40 DNA. (2990594)
1985
46
The fine structure of cytoplasmic inclusions in brain and other visceral organs in Sandhoff disease. (6097133)
1984
47
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. (7468596)
1981
48
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. (417993)
1978
49
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. (559267)
1977
50
Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. (10724)
1976

Variations for Sandhoff Disease

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Expression for genes affiliated with Sandhoff Disease

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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

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Pathways related to Sandhoff Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8HEXA, HEXB
2
Show member pathways
9.8HEXB, HEXA
3
Show member pathways
colanic acid building blocks biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
9.8HEXB, HEXA
4
Show member pathways
9.8HEXB, HEXA
5
Show member pathways
Ganglio Sphingolipid Metabolism37
9.8HEXB, HEXA
69.8HEXB, HEXA
79.0HEXB, HEXDC, HEXA
88.6HEXA, HEXB, GM2A, NPC1, ARSA
9
Show member pathways
8.4ARSA, GM2A, HEXB, HEXA, UGCG
10
Show member pathways
7.9UGCG, PTGDS, HEXA, HEXB, GM2A, ARSA

Compounds for genes affiliated with Sandhoff Disease

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Sources:
44Novoseek, 24HMDB
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Compounds related to Sandhoff Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4410.1HEXA, HEXB
2Ganglioside GA2 (d18:1/22:0)249.8HEXA, HEXB, GM2A
3Ganglioside GA2 (d18:1/20:0)249.8HEXA, HEXB, GM2A
4Ganglioside GA2 (d18:1/18:0)249.8HEXA, HEXB, GM2A
5Ganglioside GA2 (d18:1/16:0)249.8HEXA, HEXB, GM2A
6Ganglioside GA2 (d18:1/12:0)249.8HEXA, HEXB, GM2A
7Ganglioside GA2 (d18:1/24:1(15Z))249.8HEXA, HEXB, GM2A
8Ganglioside GA2 (d18:1/24:0)249.7GM2A, HEXA, HEXB
9Ganglioside GA2 (d18:1/9Z-18:1)249.7HEXA, HEXB, GM2A
10Ganglioside GA2 (d18:1/26:1(17Z))249.7HEXA, HEXB, GM2A
11Ganglioside GA2 (d18:1/26:0)249.7HEXA, HEXB, GM2A
12Ganglioside GA2 (d18:1/25:0)249.7HEXA, HEXB, GM2A
13Ganglioside GM3 (d18:1/18:0)249.7HEXB, HEXA, GM2A
14Ganglioside GM3 (d18:1/20:0)249.7GM2A, HEXB, HEXA
15Ganglioside GM3 (d18:1/12:0)249.7HEXB, HEXA, GM2A
16Ganglioside GM3 (d18:1/16:0)249.6HEXA, HEXB, GM2A
17Ganglioside GM3 (d18:1/22:0)249.6GM2A, HEXB, HEXA
18Ganglioside GM3 (d18:1/26:0)249.6HEXB, HEXA, GM2A
19Ganglioside GM3 (d18:1/26:1(17Z)))249.6GM2A, HEXB, HEXA
20Ganglioside GM3 (d18:1/9Z-18:1)249.5HEXA, HEXB, GM2A
21Ganglioside GM3 (d18:1/24:0)249.5HEXA, HEXB, GM2A
22Ganglioside GM3 (d18:1/24:1(15Z))249.5HEXA, HEXB, GM2A
23Ganglioside GM3 (d18:1/25:0)249.4HEXA, HEXB, GM2A
24Ganglioside GM2 (d18:1/18:0)249.4GM2A, HEXB, HEXA
25Ganglioside GM2 (d18:1/12:0)249.3GM2A, HEXB, HEXA
26Tetrahexosylceramide (d18:1/12:0)249.2GM2A, HEXB, HEXA, UGCG
27Trihexosylceramide (d18:1/22:0)249.2HEXA, GM2A, UGCG, HEXB
28Trihexosylceramide (d18:1/24:0)249.2GM2A, HEXB, HEXA, UGCG
29Trihexosylceramide (d18:1/24:1(15Z))249.2GM2A, HEXA, UGCG, HEXB
30Trihexosylceramide (d18:1/25:0)249.2GM2A, HEXA, HEXB, UGCG
31Trihexosylceramide (d18:1/26:1(17Z))249.2GM2A, HEXB, HEXA, UGCG
32Trihexosylceramide (d18:1/20:0)249.2UGCG, HEXA, GM2A, HEXB
33Trihexosylceramide (d18:1/12:0)249.2GM2A, HEXB, HEXA, UGCG
34Trihexosylceramide (d18:1/16:0)249.2GM2A, HEXB, HEXA, UGCG
35Trihexosylceramide (d18:1/18:0)249.2GM2A, HEXA, UGCG, HEXB
36Trihexosylceramide (d18:1/9Z-18:1)249.2UGCG, GM2A, HEXB, HEXA
37Lactosylceramide (d18:1/22:0)249.2HEXA, GM2A, HEXB, UGCG
38Lactosylceramide (d18:1/24:0)249.2GM2A, HEXA, UGCG, HEXB
39Lactosylceramide (d18:1/18:0)249.2UGCG, HEXA, HEXB, GM2A
40Lactosylceramide (d18:1/25:0)249.2HEXB, GM2A, UGCG, HEXA
41Lactosylceramide (d18:1/26:0)249.2GM2A, HEXB, HEXA, UGCG
42Lactosylceramide (d18:1/24:1(15Z))249.2UGCG, HEXA, GM2A, HEXB
43Lactosylceramide (d18:1/12:0)249.2HEXA, HEXB, GM2A, UGCG
44Lactosylceramide (d18:1/26:1(17Z))249.2GM2A, HEXA, UGCG, HEXB
45Lactosylceramide (d18:1/16:0)249.2HEXB, GM2A, HEXA, UGCG
46Ganglioside GM2 (d18:1/16:0)249.1GM2A, HEXB, HEXA
47mannose 6-phosphate44 2410.0HEXA, ARSA, NPC1, GM2A, HEXB
48glycolipid448.8GM2A, HEXB, HEXA, UGCG, NPC1
49ganglioside448.4UGCG, HEXB, GM2A, NPC1, ARSA, HEXA
50lipid448.0GM2A, ARSA, NPC1, UGCG, PTGDS, HEXA

GO Terms for genes affiliated with Sandhoff Disease

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

idNameGO IDScoreTop Affiliating Genes
1acrosomal vesicleGO:0016699.8ARSA, HEXB
2lysosomal lumenGO:0432028.7ARSA, GM2A, HEXB, HEXA

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:04234010.0HEXB, HEXA
2hyaluronan catabolic processGO:03021410.0HEXB, HEXA
3chondroitin sulfate catabolic processGO:03020710.0HEXA, HEXB
4oligosaccharide catabolic processGO:00931310.0HEXB, GM2A
5hyaluronan metabolic processGO:03021210.0HEXB, HEXA
6lysosome organizationGO:00704010.0HEXB, HEXA
7keratan sulfate metabolic processGO:0423399.9HEXA, HEXB
8myelinationGO:0425529.9HEXB, HEXA
9ganglioside catabolic processGO:0066899.7GM2A, HEXB, HEXA
10lipid storageGO:0199159.7HEXA, HEXB, GM2A
11adult walking behaviorGO:0076289.7NPC1, HEXA
12neuromuscular process controlling balanceGO:0508859.7GM2A, HEXB, HEXA
13autophagyGO:0069149.6ARSA, NPC1
14chondroitin sulfate metabolic processGO:0302049.5HEXB, HEXA
15carbohydrate metabolic processGO:0059758.9HEXA, HEXDC, HEXB
16glycosphingolipid metabolic processGO:0066878.7ARSA, GM2A, HEXB, HEXA, UGCG
17sphingolipid metabolic processGO:0066658.7UGCG, HEXA, HEXB, GM2A, ARSA
18small molecule metabolic processGO:0442818.2UGCG, PTGDS, HEXA, HEXB, GM2A, ARSA

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

idNameGO IDScoreTop Affiliating Genes
1beta-N-acetylhexosaminidase activityGO:0045638.6GM2A, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet