MCID: GM2006
MIFTS: 49

Gm2 Gangliosidosis

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

Aliases & Classifications for Gm2 Gangliosidosis

MalaCards integrated aliases for Gm2 Gangliosidosis:

Name: Gm2 Gangliosidosis 12 56 15
Gangliosidoses, Gm2 45
Gangliosidosis Gm2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3321
MeSH 45 D020143
SNOMED-CT 69 33316007
ICD10 34 E75.0 E75.00
UMLS 74 C0268274

Summaries for Gm2 Gangliosidosis

Disease Ontology : 12 A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.

MalaCards based summary : Gm2 Gangliosidosis, also known as gangliosidoses, gm2, is related to sandhoff disease and tay-sachs disease. An important gene associated with Gm2 Gangliosidosis is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and liver, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Gm2 Gangliosidosis

Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gm2 Gangliosidosis Gm1 Gangliosidosis
Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, B, B1, Ab Variant

Diseases related to Gm2 Gangliosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 sandhoff disease 33.6 GM2A HEXA HEXB HHEX
2 tay-sachs disease 31.1 CTSA ETFA GM2A HEXA HEXB HHEX
3 motor neuron disease 30.8 HEXA HEXB SMN1
4 lysosomal storage disease 29.8 CTSA HEXA HEXB NEU1
5 gm2 gangliosidosis, 0 variant 12.5
6 gm2-gangliosidosis, ab variant 12.5
7 tay-sachs disease, b1 variant 11.9
8 tay-sachs disease, b variant, juvenile form 11.7
9 tay-sachs disease, b variant, infantile form 11.7
10 tay-sachs disease, b variant, adult form 11.7
11 gangliosidosis 11.3
12 dystonia 10.4
13 muscular atrophy 10.3
14 depression 10.3
15 prader-willi syndrome 10.2
16 friedreich ataxia 1 10.2
17 hydrocephalus, normal-pressure 10.2
18 hydrocephalus 10.2
19 spinal muscular atrophy 10.2
20 dementia 10.2
21 childhood disintegrative disease 10.2
22 progressive muscular atrophy 10.2
23 movement disease 10.2
24 spinocerebellar degeneration 10.2
25 juvenile spinal muscular atrophy 10.1 HEXA SMN1
26 gaucher disease, perinatal lethal 10.1 CTSA HEXA
27 mannosidosis, alpha b, lysosomal 10.1 CTSA HEXA
28 lipid storage disease 10.1 HEXA PSAP
29 fucosidosis 10.0 CTSA HEXA
30 gaucher disease, type i 10.0 HEXA PSAP
31 mannosidosis, beta a, lysosomal 10.0 CTSA HEXA
32 galactosialidosis 10.0 CTSA NEU1
33 scheie syndrome 10.0 CTSA HEXA
34 mucopolysaccharidosis iv 10.0 CTSA NEU1
35 anterior horn cell disease 9.9 HHEX SMN1
36 aspartylglucosaminuria 9.9 CTSA HEXA
37 metachromatic leukodystrophy 9.9 HEXA PSAP
38 neuraminidase deficiency 9.8 CTSA NEU1 PSAP
39 glycoproteinosis 9.8 CTSA NEU1 PSAP
40 sphingolipidosis 9.7 CTSA HEXA HEXB PSAP
41 inclusion-cell disease 9.6 CTSA IGF2R PSAP
42 mucolipidosis ii alpha/beta 9.5 GM2A IGF2R NEU1 PSAP
43 mucolipidosis iv 9.0 CTSA ETFA GM2A HEXA HEXB HHEX

Graphical network of the top 20 diseases related to Gm2 Gangliosidosis:



Diseases related to Gm2 Gangliosidosis

Symptoms & Phenotypes for Gm2 Gangliosidosis

MGI Mouse Phenotypes related to Gm2 Gangliosidosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 CTSA GM2A HEXA HEXB IGF2R NEU1
2 growth/size/body region MP:0005378 9.91 CTSA HEXA HEXB HHEX IGF2R NEU1
3 liver/biliary system MP:0005370 9.87 CTSA HEXA HEXB HHEX IGF2R NEU1
4 craniofacial MP:0005382 9.8 CTSA HEXA HEXB HHEX IGF2R
5 nervous system MP:0003631 9.8 GM2A HEXA HEXB HHEX IGF2R NEU1
6 renal/urinary system MP:0005367 9.63 CTSA HEXA HEXB IGF2R NEU1 PSAP
7 respiratory system MP:0005388 9.35 CTSA HHEX IGF2R NEU1 PSAP
8 vision/eye MP:0005391 9.02 HEXA HEXB HHEX NEU1 PSAP

Drugs & Therapeutics for Gm2 Gangliosidosis

Drugs for Gm2 Gangliosidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 60)
# 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 Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
4 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
5 Anti-HIV Agents Phase 4,Phase 3,Phase 2
6 Antiviral Agents Phase 4,Phase 3,Phase 2
7 Cardiac Glycosides Phase 4,Phase 3,Phase 2
8 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
9 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Prednisolone acetate Phase 2, Phase 3
18 Antineoplastic Agents, Alkylating 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 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
23 Antilymphocyte Serum Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
25
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 143 6006
26
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
27
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
28
Hydroxyurea Approved Phase 2 127-07-1 3657
29
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
30
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
31
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
32
tannic acid Approved Phase 2,Not Applicable 1401-55-4
33
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
35 Folate Phase 1, Phase 2
36 Antiprotozoal Agents Phase 1, Phase 2
37 Vitamin B9 Phase 1, Phase 2
38 Antiparasitic Agents Phase 1, Phase 2
39 Antimalarials Phase 1, Phase 2
40 Vitamin B Complex Phase 1, Phase 2
41 Folic Acid Antagonists Phase 1, Phase 2
42 Antifungal Agents Phase 2,Not Applicable
43 Dermatologic Agents Phase 2,Not Applicable
44 Antimetabolites Phase 2,Not Applicable
45 Antineoplastic Agents, Immunological Phase 2,Not Applicable
46 Antimetabolites, Antineoplastic Phase 2,Not Applicable
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 Calcineurin Inhibitors Phase 2,Not Applicable
49 Cyclosporins Phase 2,Not Applicable
50 leucine Phase 2

Interventional clinical trials:

(show all 22)
# 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 Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Recruiting NCT03822013 Phase 3 Miglustat
5 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
6 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
7 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
8 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
10 N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) Not yet recruiting NCT03759665 Phase 2 IB1001
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1 Pyrimethamine
13 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
14 Gene Therapy for Tay-Sachs Disease Completed NCT01869270
15 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
16 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
17 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
18 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
19 Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2) Recruiting NCT02298647
20 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 A Natural History of Late Onset Tay-Sachs Disease Active, not recruiting NCT02851862

Search NIH Clinical Center for Gm2 Gangliosidosis

Cochrane evidence based reviews: gangliosidoses, gm2

Genetic Tests for Gm2 Gangliosidosis

Anatomical Context for Gm2 Gangliosidosis

MalaCards organs/tissues related to Gm2 Gangliosidosis:

42
Brain, Bone, Liver, Eye, Skin, Kidney, Bone Marrow

Publications for Gm2 Gangliosidosis

Articles related to Gm2 Gangliosidosis:

(show top 50) (show all 238)
# Title Authors Year
1
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. ( 29106755 )
2018
2
Genetics and Therapies for GM2 Gangliosidosis. ( 29618308 )
2018
3
THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO). ( 29900785 )
2018
4
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency. ( 28192816 )
2017
5
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene. ( 28417072 )
2017
6
GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. ( 28833537 )
2017
7
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. ( 26082327 )
2016
8
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. ( 26286102 )
2016
9
Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. ( 27018595 )
2016
10
Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice. ( 27199088 )
2016
11
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. ( 27402091 )
2016
12
Animal models of GM2 gangliosidosis: utility and limitations. ( 27499644 )
2016
13
CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. ( 27841233 )
2016
14
Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis). ( 25232033 )
2015
15
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. ( 25900722 )
2015
16
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. ( 25916337 )
2015
17
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog. ( 26535459 )
2015
18
Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan. ( 24161966 )
2014
19
GM2 gangliosidosis in British Jacob sheep. ( 24309906 )
2014
20
Late onset GM2 gangliosidosis presenting with motor neuron disease: an autopsy case. ( 24354582 )
2014
21
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts. ( 24356898 )
2014
22
GM2 gangliosidosis in British Jacob sheep. ( 24391178 )
2014
23
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). ( 25143775 )
2014
24
Testing sheep for GM2 gangliosidosis. ( 25217607 )
2014
25
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up. ( 27896099 )
2014
26
GM2 gangliosidosis in an adult pet rabbit. ( 22878054 )
2013
27
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. ( 23266199 )
2013
28
GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. ( 23731274 )
2013
29
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. ( 23820084 )
2013
30
[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis]. ( 23370522 )
2013
31
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). ( 22766310 )
2012
32
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. ( 22453766 )
2012
33
GM2 gangliosidosis: the prototype of lysosomal storage disorders. ( 22224667 )
2012
34
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. ( 22115551 )
2012
35
Pathology of GM2 gangliosidosis in Jacob sheep. ( 21123862 )
2011
36
Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats. ( 21398459 )
2011
37
Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis. ( 21487393 )
2011
38
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. ( 21520232 )
2011
39
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. ( 21567908 )
2011
40
Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis. ( 21598013 )
2011
41
Neuroradiological findings in GM2 gangliosidosis variant B1. ( 22408656 )
2011
42
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). ( 20926324 )
2011
43
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. ( 20821051 )
2010
44
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. ( 20695991 )
2010
45
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology. ( 19166507 )
2009
46
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. ( 19447653 )
2009
47
Substrate reduction therapy in juvenile GM2 gangliosidosis. ( 19595619 )
2009
48
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis. ( 19765188 )
2009
49
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. ( 18648917 )
2008
50
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. ( 18772556 )
2008

Variations for Gm2 Gangliosidosis

Expression for Gm2 Gangliosidosis

Search GEO for disease gene expression data for Gm2 Gangliosidosis.

Pathways for Gm2 Gangliosidosis

GO Terms for Gm2 Gangliosidosis

Cellular components related to Gm2 Gangliosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.7 CTSA GM2A HEXA HEXB IGF2R NEU1
2 lysosomal membrane GO:0005765 9.56 CTSA IGF2R NEU1 PSAP
3 azurophil granule lumen GO:0035578 9.5 CTSA GM2A HEXB
4 lysosome GO:0005764 9.5 CTSA GM2A HEXA HEXB IGF2R NEU1
5 azurophil granule GO:0042582 9.37 HEXA HEXB
6 lysosomal lumen GO:0043202 9.1 CTSA GM2A HEXA HEXB NEU1 PSAP

Biological processes related to Gm2 Gangliosidosis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 HEXA HEXB NEU1
2 metabolic process GO:0008152 9.65 HEXA HEXB NEU1
3 neutrophil degranulation GO:0043312 9.63 CTSA GM2A HEXB IGF2R NEU1 PSAP
4 neuromuscular process controlling balance GO:0050885 9.52 GM2A HEXB
5 sphingolipid metabolic process GO:0006665 9.51 GM2A PSAP
6 lipid storage GO:0019915 9.46 GM2A HEXB
7 hyaluronan catabolic process GO:0030214 9.43 HEXA HEXB
8 oligosaccharide catabolic process GO:0009313 9.43 GM2A HEXB NEU1
9 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA HEXB
10 keratan sulfate catabolic process GO:0042340 9.37 HEXA HEXB
11 positive regulation of catalytic activity GO:0043085 9.32 CTSA GM2A
12 ganglioside catabolic process GO:0006689 9.13 GM2A HEXB NEU1
13 glycosphingolipid metabolic process GO:0006687 9.1 CTSA GM2A HEXA HEXB NEU1 PSAP

Molecular functions related to Gm2 Gangliosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 CTSA GM2A HEXA HEXB NEU1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 HEXA HEXB NEU1
3 acetylglucosaminyltransferase activity GO:0008375 9.37 HEXA HEXB
4 enzyme activator activity GO:0008047 9.33 CTSA GM2A PSAP
5 exo-alpha-sialidase activity GO:0004308 8.96 NEU1
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 8.96 HEXA HEXB
7 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Gm2 Gangliosidosis

3 CDC
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10 dbSNP
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18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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