MCID: GNG010
MIFTS: 40

Gangliosidosis Gm2

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

Aliases & Classifications for Gangliosidosis Gm2

MalaCards integrated aliases for Gangliosidosis Gm2:

Name: Gangliosidosis Gm2 12 15
Gm>2< Gangliosidosis 12
Gangliosidoses, Gm2 44

Classifications:



External Ids:

Disease Ontology 12 DOID:3321
ICD10 33 E75.0 E75.00
MeSH 44 D020143
SNOMED-CT 68 33316007
UMLS 73 C0268274

Summaries for Gangliosidosis Gm2

MalaCards based summary : Gangliosidosis Gm2, also known as gm>2< gangliosidosis, is related to tay-sachs disease and sandhoff disease. An important gene associated with Gangliosidosis Gm2 is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and eye, and related phenotypes are behavior/neurological and hematopoietic system

Related Diseases for Gangliosidosis Gm2

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



Diseases related to Gangliosidosis Gm2

Symptoms & Phenotypes for Gangliosidosis Gm2

MGI Mouse Phenotypes related to Gangliosidosis Gm2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 CTSA GLB1 GM2A HEXA HEXB NPC1
2 hematopoietic system MP:0005397 9.8 CTSA GLB1 HEXB HHEX NAGA NPC1
3 homeostasis/metabolism MP:0005376 9.8 CTSA GLB1 HEXA HEXB HHEX NAGA
4 craniofacial MP:0005382 9.77 CTSA HEXA HEXB HHEX NPC1
5 immune system MP:0005387 9.63 CTSA GLB1 HEXB HHEX NAGA NPC1
6 liver/biliary system MP:0005370 9.43 CTSA GLB1 HEXA HEXB HHEX NPC1
7 nervous system MP:0003631 9.1 GLB1 GM2A HEXA HEXB HHEX NPC1

Drugs & Therapeutics for Gangliosidosis Gm2

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

(show all 19)
# 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 2,Phase 1
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
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143
11
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13 Vitamin B9 Phase 1, Phase 2
14 Folic Acid Antagonists Phase 1, Phase 2
15 Vitamin B Complex Phase 1, Phase 2
16 Antiparasitic Agents Phase 1, Phase 2
17 Antimalarials Phase 1, Phase 2
18 Folate Phase 1, Phase 2
19 Antiprotozoal Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 11)
# 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 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
4 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
5 N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) Not yet recruiting NCT03759665 Phase 2 IB1001
6 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1 Pyrimethamine
7 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
8 Biomarker for Gangliosidosis: BioGM1 / BioGM2 Recruiting NCT02298647
9 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
10 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
11 A Natural History of Late Onset Tay-Sachs Disease Active, not recruiting NCT02851862

Search NIH Clinical Center for Gangliosidosis Gm2

Cochrane evidence based reviews: gangliosidoses, gm2

Genetic Tests for Gangliosidosis Gm2

Anatomical Context for Gangliosidosis Gm2

MalaCards organs/tissues related to Gangliosidosis Gm2:

41
Liver, Bone, Eye

Publications for Gangliosidosis Gm2

Articles related to Gangliosidosis Gm2:

# Title Authors Year
1
Patterns of complex carbohydrate storage in four lysosomal storage diseases: fucosidosis, GM1-gangliosidosis, GM2-gangliosidosis (Sandhoff variant) and mannosidosis. ( 418790 )
1977
2
Chromatographic study of serum hexosaminidase in normal and GM 2-gangliosidosis. ( 4842420 )
1974
3
Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients. ( 5057290 )
1972

Variations for Gangliosidosis Gm2

Expression for Gangliosidosis Gm2

Search GEO for disease gene expression data for Gangliosidosis Gm2.

Pathways for Gangliosidosis Gm2

Pathways related to Gangliosidosis Gm2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 CTSA ETFA GLB1 GM2A HEXA HEXB
2
Show member pathways
12.14 GLB1 HEXA HEXB
3
Show member pathways
11.76 CTSA GLB1 GM2A HEXA HEXB
4
Show member pathways
11.52 GLB1 HEXA HEXB
5
Show member pathways
11.36 HEXA HEXB
6 11.26 CTSA GLB1 GM2A HEXA HEXB NAGA
7
Show member pathways
11.11 HEXA HEXB NAGA
8
Show member pathways
10.94 GLB1 HEXA HEXB
9
Show member pathways
10.73 GLB1 HEXA HEXB
10 10.59 GLB1 HEXA HEXB

GO Terms for Gangliosidosis Gm2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 CTSA GLB1 GM2A HEXA HEXB NAGA
2 azurophil granule lumen GO:0035578 9.46 CTSA GLB1 GM2A HEXB
3 lysosomal lumen GO:0043202 9.35 CTSA GLB1 GM2A HEXA HEXB
4 azurophil granule GO:0042582 9.32 HEXA HEXB
5 lysosome GO:0005764 9.17 CTSA GLB1 GM2A HEXA HEXB NAGA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.76 CTSA GLB1 GM2A HEXB
2 carbohydrate metabolic process GO:0005975 9.56 GLB1 HEXA HEXB NAGA
3 neuromuscular process controlling balance GO:0050885 9.49 GM2A HEXB
4 lipid storage GO:0019915 9.48 GM2A HEXB
5 metabolic process GO:0008152 9.46 GLB1 HEXA HEXB NAGA
6 hyaluronan catabolic process GO:0030214 9.43 HEXA HEXB
7 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA HEXB
8 oligosaccharide catabolic process GO:0009313 9.37 GM2A HEXB
9 ganglioside catabolic process GO:0006689 9.32 GM2A HEXB
10 keratan sulfate catabolic process GO:0042340 9.13 GLB1 HEXA HEXB
11 glycosphingolipid metabolic process GO:0006687 9.02 CTSA GLB1 GM2A HEXA HEXB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 CTSA GLB1 GM2A HEXA HEXB NAGA
2 protein homodimerization activity GO:0042803 9.76 GLB1 HEXB HHEX NAGA
3 enzyme activator activity GO:0008047 9.48 CTSA GM2A
4 lipid transporter activity GO:0005319 9.43 GM2A NPC1
5 acetylglucosaminyltransferase activity GO:0008375 9.4 HEXA HEXB
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 GLB1 HEXB NAGA
7 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.26 HEXA HEXB
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLB1 HEXA HEXB NAGA
10 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Gangliosidosis Gm2

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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