GM2G2
MCID: SND001
MIFTS: 66

Sandhoff Disease (GM2G2)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sandhoff Disease

MalaCards integrated aliases for Sandhoff Disease:

Name: Sandhoff Disease 57 38 12 76 53 25 54 59 75 37 29 55 6 44 15 40 73
Total Hexosaminidase Deficiency 53 25 73
Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 13
Beta-Hexosaminidase-Beta-Subunit Deficiency 53 25
Hexosaminidase a and B Deficiency Disease 53 25
Hexosaminidases a and B Deficiency 57 59
Sandhoff-Jatzkewitz-Pilz Disease 53 25
Gm2 Gangliosidosis, Type 2 53 25
Hexosaminidases a and B Deficiency, Infantile Form 59
Hexosaminidases a and B Deficiency, Juvenile Form 59
Hexosaminidases a and B Deficiency, Adult Form 59
Infantile Gm2 Gangliosidosis 0 Variant 59
Juvenile Gm2 Gangliosidosis 0 Variant 59
Adult Gm2 Gangliosidosis 0 Variant 59
Hexosaminidase a and B Deficiency 75
Sandhoff Disease, Infantile Form 59
Sandhoff Disease, Juvenile Form 59
Gm2 Gangliosidosis 0 Variant 59
Sandhoff Disease, Adult Form 59
Gm2-Gangliosidosis, Type Ii 57
Sandhoff Jatzkewitz Disease 12
Gm2 Gangliosidosis, Type Ii 25
Gm2-Gangliosidosis 2 75
Gm2g2 75
Sd 75

Characteristics:

Orphanet epidemiological data:

59
sandhoff disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Portugal),1-9/1000000 (Netherlands),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Turkey),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,early childhood,late childhood;

OMIM:

57
Inheritance:
autosomal recessive with multiple alleles and compounds


Classifications:



Summaries for Sandhoff Disease

NINDS : 54 Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord.  It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Each parent must carry the defective gene and pass it on to the child.  Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder. Onset of the disorder usually occurs at 6 months of age. Symptoms may include: progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), myoclonus (shock-like contractions of a muscle, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and enlarged liver and spleen.

MalaCards based summary : Sandhoff Disease, also known as total hexosaminidase deficiency, is related to tay-sachs disease and gm2 gangliosidosis, 0 variant. An important gene associated with Sandhoff Disease is HEXB (Hexosaminidase Subunit Beta), and among its related pathways/superpathways are Glycosaminoglycan degradation and Other glycan degradation. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are macrocephaly and seizures

Genetics Home Reference : 25 Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases : 53 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 enzymebeta-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. 

OMIM : 57 Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800). (268800)

UniProtKB/Swiss-Prot : 75 GM2-gangliosidosis 2: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.

Wikipedia : 76 Sandhoff disease, also known as Sandhoff�??Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or... more...

Related Diseases for Sandhoff Disease

Diseases related to Sandhoff Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 tay-sachs disease 31.6 GM2A HEXA HEXB HHEX
2 gm2 gangliosidosis, 0 variant 12.7
3 shwachman-diamond syndrome 1 12.0
4 salla disease 11.7
5 semantic dementia 11.6
6 trichohepatoenteric syndrome 1 11.3
7 sydenham chorea 11.2
8 rheumatic encephalitis 11.2
9 generalized gangliosidoses 11.2
10 microcephaly 1, primary, autosomal recessive 11.0
11 desbuquois dysplasia 1 11.0
12 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.0
13 macrocephaly/autism syndrome 11.0
14 multiple system atrophy 1 11.0
15 sickle cell - hemoglobin d disease 11.0
16 gm1-gangliosidosis, type i 11.0
17 gm2-gangliosidosis, ab variant 11.0
18 microcephaly, autosomal dominant 10.9
19 isolated growth hormone deficiency, type ia 10.9
20 short stature, idiopathic, x-linked 10.9
21 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.9
22 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9
23 microcephaly 5, primary, autosomal recessive 10.9
24 isolated growth hormone deficiency, type ib 10.9
25 lissencephaly 4 10.9
26 microcephaly 10, primary, autosomal recessive 10.9
27 desbuquois dysplasia 2 10.9
28 acid-labile subunit deficiency 10.9
29 nanophthalmos 4 10.9
30 macular dystrophy, vitelliform, 4 10.9
31 macular dystrophy, vitelliform, 5 10.9
32 short stature with nonspecific skeletal abnormalities 10.9
33 microcephaly 17, primary, autosomal recessive 10.9
34 leukodystrophy, hypomyelinating, 17 10.9
35 isolated growth hormone deficiency, type iv 10.9
36 free sialic acid storage disorders 10.9
37 motor neuron disease 10.2
38 gallbladder cancer 10.2
39 macular retinal edema 10.1
40 neural tube defects 10.1
41 alcoholic hepatitis 10.1
42 retinitis pigmentosa 10.1
43 macular degeneration, age-related, 1 10.1
44 malaria 10.1
45 argyria 10.1
46 pemphigus foliaceus 10.1
47 bronchopulmonary dysplasia 10.1
48 body mass index quantitative trait locus 1 10.0
49 myopia 10.0
50 constipation 10.0

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



Diseases related to Sandhoff Disease

Symptoms & Phenotypes for Sandhoff Disease

Symptoms via clinical synopsis from OMIM:

57
Cranium:
macrocephaly

Tongue:
macroglossia

G I:
episodic abdominal pain
chronic diarrhea
hepatosplenomegaly

Facies:
coarse facies
doll-like face

Eyes:
early blindness
cherry red spots

Skin:
impaired sweating

Lab:
hexosaminidase b beta chain deficiency

Neuro:
dysarthria
hyperreflexia
fasciculations
orthostatic hypotension
impaired thermal sensitivity
more
Cardiac:
cardiomegaly

G U:
impotence
mild urinary incontinence

Muscle:
muscle wasting
infantile muscle weakness

Skel:
high lumbar gibbus

Misc:
lethal usually by age 3 years
intolerance to heat


Clinical features from OMIM:

268800

Human phenotypes related to Sandhoff Disease:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
9 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
12 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
13 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
14 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
15 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
16 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
17 motor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002333
18 abnormality of glycosphingolipid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004343
19 progressive psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0007272
20 hyperhidrosis 32 HP:0000975
21 dysarthria 32 HP:0001260
22 hyperreflexia 32 HP:0001347
23 macroglossia 32 HP:0000158
24 coarse facial features 32 HP:0000280
25 cardiomegaly 32 HP:0001640
26 skeletal muscle atrophy 32 HP:0003202
27 hypohidrosis 32 HP:0000966
28 episodic abdominal pain 32 HP:0002574
29 fasciculations 32 HP:0002380
30 chronic diarrhea 32 HP:0002028
31 urinary incontinence 32 HP:0000020
32 impotence 32 HP:0000802
33 orthostatic hypotension 32 HP:0001278
34 hepatosplenomegaly 32 HP:0001433
35 upper motor neuron dysfunction 32 HP:0002493
36 impaired thermal sensitivity 32 HP:0006901

MGI Mouse Phenotypes related to Sandhoff Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 HEXA HEXB HHEX NPC1
2 liver/biliary system MP:0005370 9.46 HEXA HEXB HHEX NPC1
3 nervous system MP:0003631 9.43 GM2A HEXA HEXB HHEX NPC1 UGCG
4 vision/eye MP:0005391 8.92 HEXA HEXB HHEX NPC1

Drugs & Therapeutics for Sandhoff Disease

Drugs for Sandhoff Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2 72599-27-0 51634
2
1-Deoxynojirimycin Experimental, Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
4 Antiviral Agents Phase 4,Phase 3,Phase 2
5 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
6 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
7 Anti-HIV Agents Phase 4,Phase 3,Phase 2
8 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2
10
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Prednisolone acetate Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
19 Methylprednisolone acetate Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3,Not Applicable
21 Immunologic Factors Phase 2, Phase 3,Not Applicable
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
23 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
24 Antilymphocyte Serum Phase 2, Phase 3
25
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
26
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
27
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
28
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
29 tannic acid Approved Phase 2,Not Applicable
30
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
31
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
32
Hydroxyurea Approved Phase 2 127-07-1 3657
33
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
35 Vitamin B9 Phase 1, Phase 2
36 Folic Acid Antagonists Phase 1, Phase 2
37 Vitamin B Complex Phase 1, Phase 2
38 Antiparasitic Agents Phase 1, Phase 2
39 Antimalarials Phase 1, Phase 2
40 Folate Phase 1, Phase 2
41 Antiprotozoal Agents Phase 1, Phase 2
42 Calcineurin Inhibitors Phase 2,Not Applicable
43 Antifungal Agents Phase 2,Not Applicable
44 Dermatologic Agents Phase 2,Not Applicable
45 Antimetabolites, Antineoplastic Phase 2,Not Applicable
46 Cyclosporins Phase 2,Not Applicable
47 Antimetabolites Phase 2,Not Applicable
48 Nucleic Acid Synthesis Inhibitors Phase 2
49
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
50 Antitubercular Agents Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
5 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
7 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) Not yet recruiting NCT03759665 Phase 2 IB1001
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1 Pyrimethamine
12 Gene Therapy for Tay-Sachs Disease Completed NCT01869270
13 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
14 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
15 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
16 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
17 A Natural History of Late Onset Tay-Sachs Disease Active, not recruiting NCT02851862

Search NIH Clinical Center for Sandhoff Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sandhoff Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: sandhoff disease

Genetic Tests for Sandhoff Disease

Genetic tests related to Sandhoff Disease:

# Genetic test Affiliating Genes
1 Sandhoff Disease 29 HEXB

Anatomical Context for Sandhoff Disease

MalaCards organs/tissues related to Sandhoff Disease:

41
Brain, Spinal Cord, Eye, Liver, Spleen, Bone, T Cells

Publications for Sandhoff Disease

Articles related to Sandhoff Disease:

(show top 50) (show all 188)
# Title Authors Year
1
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model. ( 30534578 )
2019
2
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. ( 29106755 )
2018
3
Improvement in dysmyelination by the inhibition of microglial activation in a mouse model of Sandhoff disease. ( 29847465 )
2018
4
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice. ( 29325092 )
2018
5
Cerebral organoids derived from Sandhoff disease induced pluripotent stem cells exhibit impaired neurodifferentiation. ( 29358305 )
2018
6
Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease. ( 30026035 )
2018
7
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. ( 30065954 )
2018
8
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. ( 30075786 )
2018
9
Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. ( 30236619 )
2018
10
Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage. ( 28575132 )
2017
11
Suppression of NK and CD8<sup>+</sup>T cells reduces astrogliosis but accelerates cerebellar dysfunction and shortens life span in a mouse model of Sandhoff disease. ( 28385189 )
2017
12
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice. ( 28007910 )
2017
13
Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. ( 28377426 )
2017
14
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation. ( 28553389 )
2017
15
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings. ( 28281504 )
2017
16
FcRI^-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice. ( 28084424 )
2017
17
AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. ( 27793778 )
2017
18
Early cardiac involvement in an infantile Sandhoff disease case with novel mutations. ( 27697305 )
2017
19
An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty. ( 29201831 )
2017
20
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. ( 27682710 )
2016
21
Infantile Sandhoff Disease: Unusual presentation. ( 28050081 )
2016
22
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. ( 26582265 )
2016
23
Bi-phasic gliosis drives neuropathology in a Sandhoff disease mouse model. ( 27725117 )
2016
24
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation. ( 26985245 )
2016
25
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. ( 27021291 )
2016
26
Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease. ( 26467605 )
2016
27
Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice. ( 26545879 )
2016
28
TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology. ( 26545928 )
2016
29
AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System. ( 25873306 )
2015
30
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease. ( 25497207 )
2015
31
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. ( 25736553 )
2015
32
Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease. ( 25474439 )
2015
33
Very late-onset Sandhoff disease presenting as Kennedy disease. ( 26769462 )
2015
34
Long-term correction of sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. ( 25515709 )
2015
35
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog. ( 26535459 )
2015
36
Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy. ( 25971245 )
2015
37
Toddler with retinal defects. . .psychomotor regression. Sandhoff disease. ( 26020229 )
2015
38
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis. ( 24461908 )
2014
39
Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. ( 25284324 )
2014
40
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus. ( 24613245 )
2014
41
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. ( 23759947 )
2013
42
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI. ( 24134161 )
2013
43
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. ( 23689599 )
2013
44
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. ( 24263030 )
2013
45
Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice. ( 23417430 )
2013
46
Deletion of tumor necrosis factor-I+ ameliorates neurodegeneration in Sandhoff disease mice. ( 23727835 )
2013
47
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
48
Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease. ( 23383290 )
2013
49
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). ( 22766310 )
2012
50
A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation. ( 22191674 )
2012

Variations for Sandhoff Disease

UniProtKB/Swiss-Prot genetic disease variations for Sandhoff Disease:

75
# Symbol AA change Variation ID SNP ID
1 HEXB p.Ser62Leu VAR_003247 rs820878
2 HEXB p.Cys309Tyr VAR_003250
3 HEXB p.Pro417Leu VAR_003251 rs28942073
4 HEXB p.Tyr456Ser VAR_003252
5 HEXB p.Arg505Gln VAR_003253
6 HEXB p.Cys534Tyr VAR_003254
7 HEXB p.Ser255Arg VAR_011704
8 HEXB p.Pro504Ser VAR_011705
9 HEXB p.Ala543Thr VAR_011706

ClinVar genetic disease variations for Sandhoff Disease:

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 HEXB nsv513799 deletion Pathogenic
2 HEXB NM_000521.3(HEXB): c.362A> G (p.Lys121Arg) single nucleotide variant Benign/Likely benign rs11556045 GRCh37 Chromosome 5, 73985215: 73985215
3 HEXB NM_000521.3(HEXB): c.362A> G (p.Lys121Arg) single nucleotide variant Benign/Likely benign rs11556045 GRCh38 Chromosome 5, 74689390: 74689390
4 HEXB NM_000521.3(HEXB): c.1367A> C (p.Tyr456Ser) single nucleotide variant Uncertain significance rs121907982 GRCh37 Chromosome 5, 74014746: 74014746
5 HEXB NM_000521.3(HEXB): c.1367A> C (p.Tyr456Ser) single nucleotide variant Uncertain significance rs121907982 GRCh38 Chromosome 5, 74718921: 74718921
6 HEXB NM_000521.3(HEXB): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942073 GRCh37 Chromosome 5, 74014629: 74014629
7 HEXB NM_000521.3(HEXB): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942073 GRCh38 Chromosome 5, 74718804: 74718804
8 HEXB NM_000521.3(HEXB): c.1514G> A (p.Arg505Gln) single nucleotide variant Likely pathogenic rs121907983 GRCh37 Chromosome 5, 74016473: 74016473
9 HEXB NM_000521.3(HEXB): c.1514G> A (p.Arg505Gln) single nucleotide variant Likely pathogenic rs121907983 GRCh38 Chromosome 5, 74720648: 74720648
10 HEXB NM_000521.3(HEXB): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs121907986 GRCh37 Chromosome 5, 74009409: 74009409
11 HEXB NM_000521.3(HEXB): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs121907986 GRCh38 Chromosome 5, 74713584: 74713584
12 HEXB NM_000521.3(HEXB): c.115delG (p.Val39Trpfs) deletion Pathogenic rs398123443 GRCh37 Chromosome 5, 73981200: 73981200
13 HEXB NM_000521.3(HEXB): c.115delG (p.Val39Trpfs) deletion Pathogenic rs398123443 GRCh38 Chromosome 5, 74685375: 74685375
14 HEXB NM_000521.3(HEXB): c.1238_1242delCAAAG (p.Lys414Cysfs) deletion Pathogenic rs398123445 GRCh37 Chromosome 5, 74014184: 74014188
15 HEXB NM_000521.3(HEXB): c.1238_1242delCAAAG (p.Lys414Cysfs) deletion Pathogenic rs398123445 GRCh38 Chromosome 5, 74718359: 74718363
16 HEXB NM_000521.3(HEXB): c.1243-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398123446 GRCh37 Chromosome 5, 74014620: 74014620
17 HEXB NM_000521.3(HEXB): c.1243-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398123446 GRCh38 Chromosome 5, 74718795: 74718795
18 HEXB NM_000521.3(HEXB): c.1375G> T (p.Asp459Tyr) single nucleotide variant Likely pathogenic rs398123447 GRCh37 Chromosome 5, 74014754: 74014754
19 HEXB NM_000521.3(HEXB): c.1375G> T (p.Asp459Tyr) single nucleotide variant Likely pathogenic rs398123447 GRCh38 Chromosome 5, 74718929: 74718929
20 HEXB NM_000521.3(HEXB): c.1614-14C> A single nucleotide variant Benign/Likely benign rs201448394 GRCh37 Chromosome 5, 74016929: 74016929
21 HEXB NM_000521.3(HEXB): c.1614-14C> A single nucleotide variant Benign/Likely benign rs201448394 GRCh38 Chromosome 5, 74721104: 74721104
22 HEXB NM_000521.3(HEXB): c.619A> G (p.Ile207Val) single nucleotide variant Benign/Likely benign rs10805890 GRCh37 Chromosome 5, 73992881: 73992881
23 HEXB NM_000521.3(HEXB): c.619A> G (p.Ile207Val) single nucleotide variant Benign/Likely benign rs10805890 GRCh38 Chromosome 5, 74697056: 74697056
24 HEXB NM_000521.3(HEXB): c.772-4A> G single nucleotide variant Benign/Likely benign rs17561000 GRCh37 Chromosome 5, 74009327: 74009327
25 HEXB NM_000521.3(HEXB): c.772-4A> G single nucleotide variant Benign/Likely benign rs17561000 GRCh38 Chromosome 5, 74713502: 74713502
26 HEXB NM_000521.3(HEXB): c.797A> G (p.Tyr266Cys) single nucleotide variant Likely pathogenic rs398123450 GRCh37 Chromosome 5, 74009356: 74009356
27 HEXB NM_000521.3(HEXB): c.797A> G (p.Tyr266Cys) single nucleotide variant Likely pathogenic rs398123450 GRCh38 Chromosome 5, 74713531: 74713531
28 HEXB NM_000521.3(HEXB): c.1051T> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs114661695 GRCh37 Chromosome 5, 74011484: 74011484
29 HEXB NM_000521.3(HEXB): c.1051T> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs114661695 GRCh38 Chromosome 5, 74715659: 74715659
30 HEXB NM_000521.3(HEXB): c.214C> T (p.Leu72Phe) single nucleotide variant Benign/Likely benign rs147155126 GRCh37 Chromosome 5, 73981299: 73981299
31 HEXB NM_000521.3(HEXB): c.214C> T (p.Leu72Phe) single nucleotide variant Benign/Likely benign rs147155126 GRCh38 Chromosome 5, 74685474: 74685474
32 HEXB NM_000521.3(HEXB): c.1652G> A (p.Cys551Tyr) single nucleotide variant Uncertain significance rs727503961 GRCh37 Chromosome 5, 74016981: 74016981
33 HEXB NM_000521.3(HEXB): c.1652G> A (p.Cys551Tyr) single nucleotide variant Uncertain significance rs727503961 GRCh38 Chromosome 5, 74721156: 74721156
34 HEXB NM_000521.3(HEXB): c.771+5G> C single nucleotide variant Likely pathogenic rs727503959 GRCh37 Chromosome 5, 74001150: 74001150
35 HEXB NM_000521.3(HEXB): c.771+5G> C single nucleotide variant Likely pathogenic rs727503959 GRCh38 Chromosome 5, 74705325: 74705325
36 HEXB NM_000521.3(HEXB): c.1478T> G (p.Val493Gly) single nucleotide variant Likely pathogenic rs794727049 GRCh37 Chromosome 5, 74016313: 74016313
37 HEXB NM_000521.3(HEXB): c.1478T> G (p.Val493Gly) single nucleotide variant Likely pathogenic rs794727049 GRCh38 Chromosome 5, 74720488: 74720488
38 HEXB NM_000521.3(HEXB): c.1517_1529dupCAAGTGCTGTTGG (p.Glu511Lysfs) duplication Pathogenic rs797044644 GRCh37 Chromosome 5, 74016476: 74016488
39 HEXB NM_000521.3(HEXB): c.1517_1529dupCAAGTGCTGTTGG (p.Glu511Lysfs) duplication Pathogenic rs797044644 GRCh38 Chromosome 5, 74720651: 74720663
40 HEXB NM_000521.3(HEXB): c.1535_1536delGA (p.Arg512Thrfs) deletion Pathogenic/Likely pathogenic rs794727091 GRCh37 Chromosome 5, 74016494: 74016495
41 HEXB NM_000521.3(HEXB): c.1535_1536delGA (p.Arg512Thrfs) deletion Pathogenic/Likely pathogenic rs794727091 GRCh38 Chromosome 5, 74720669: 74720670
42 HEXB NM_000521.3(HEXB): c.127G> T (p.Ala43Ser) single nucleotide variant Uncertain significance rs797045614 GRCh38 Chromosome 5, 74685387: 74685387
43 HEXB NM_000521.3(HEXB): c.127G> T (p.Ala43Ser) single nucleotide variant Uncertain significance rs797045614 GRCh37 Chromosome 5, 73981212: 73981212
44 HEXB NM_000521.3(HEXB): c.449C> A (p.Thr150Asn) single nucleotide variant Benign rs148268937 GRCh37 Chromosome 5, 73989467: 73989467
45 HEXB NM_000521.3(HEXB): c.449C> A (p.Thr150Asn) single nucleotide variant Benign rs148268937 GRCh38 Chromosome 5, 74693642: 74693642
46 HEXB NM_000521.3(HEXB): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs1114167287 GRCh37 Chromosome 5, 73981255: 73981255
47 HEXB NM_000521.3(HEXB): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs1114167287 GRCh38 Chromosome 5, 74685430: 74685430
48 HEXB NM_000521.3(HEXB): c.445+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs761197472 GRCh38 Chromosome 5, 74689474: 74689474
49 HEXB NM_000521.3(HEXB): c.445+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs761197472 GRCh37 Chromosome 5, 73985299: 73985299
50 HEXB NM_000521.3(HEXB): c.1258A> G (p.Ile420Val) single nucleotide variant Benign/Likely benign rs77499935 GRCh38 Chromosome 5, 74718812: 74718812

Copy number variations for Sandhoff Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 201871 5 73971603 74052869 Deletion HEXB Sandhoff disease

Expression for Sandhoff Disease

Search GEO for disease gene expression data for Sandhoff Disease.

Pathways for Sandhoff Disease

Pathways related to Sandhoff Disease according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Other glycan degradation hsa00511

GO Terms for Sandhoff Disease

Cellular components related to Sandhoff Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 azurophil granule lumen GO:0035578 9.26 GM2A HEXB
2 azurophil granule GO:0042582 9.16 HEXA HEXB
3 lysosomal lumen GO:0043202 9.13 GM2A HEXA HEXB
4 lysosome GO:0005764 8.92 GM2A HEXA HEXB NPC1

Biological processes related to Sandhoff Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.65 GM2A NPC1 UGCG
2 neuromuscular process controlling balance GO:0050885 9.46 GM2A HEXB
3 sphingolipid metabolic process GO:0006665 9.43 GM2A UGCG
4 lipid storage GO:0019915 9.4 GM2A HEXB
5 hyaluronan catabolic process GO:0030214 9.37 HEXA HEXB
6 chondroitin sulfate catabolic process GO:0030207 9.32 HEXA HEXB
7 keratan sulfate catabolic process GO:0042340 9.26 HEXA HEXB
8 oligosaccharide catabolic process GO:0009313 9.16 GM2A HEXB
9 ganglioside catabolic process GO:0006689 8.96 GM2A HEXB
10 glycosphingolipid metabolic process GO:0006687 8.92 GM2A HEXA HEXB UGCG

Molecular functions related to Sandhoff Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.32 HEXA HEXB
2 lipid transporter activity GO:0005319 9.26 GM2A NPC1
3 acetylglucosaminyltransferase activity GO:0008375 9.16 HEXA HEXB
4 N-acetyl-beta-D-galactosaminidase activity GO:0102148 8.96 HEXA HEXB
5 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Sandhoff Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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