MCID: GNG010
MIFTS: 37

Gangliosidosis Gm2

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone 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 sandhoff disease and tay-sachs disease. An important gene associated with Gangliosidosis Gm2 is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Related phenotypes are Reduced mammosphere formation and behavior/neurological

Wikipedia : 76 GM 2 gangliosidosis refers to several similar genetic... more...

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

GenomeRNAi Phenotypes related to Gangliosidosis Gm2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CTSA ETFA GAA GLB1 NAGA

MGI Mouse Phenotypes related to Gangliosidosis Gm2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CTSA GAA GLB1 GM2A HEXA HEXB
2 homeostasis/metabolism MP:0005376 9.5 HHEX NAGA CTSA GAA GLB1 HEXA
3 liver/biliary system MP:0005370 9.02 HHEX CTSA GLB1 HEXA HEXB

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 Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
4 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
5 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-HIV Agents Phase 4,Phase 3,Phase 2
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
8 Antiviral Agents Phase 4,Phase 3,Phase 2
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2
10
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
11
leucovorin Approved, Nutraceutical Phase 1, Phase 2,Phase 2 58-05-9 143 6006
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13 Folic Acid Antagonists Phase 1, Phase 2
14 Vitamin B Complex Phase 1, Phase 2
15 Antiparasitic Agents Phase 1, Phase 2
16 Antiprotozoal Agents Phase 1, Phase 2
17 Antimalarials Phase 1, Phase 2
18 Folate Nutraceutical Phase 1, Phase 2
19 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# 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 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1 Pyrimethamine
6 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
7 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
8 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
9 A Natural History of Late Onset Tay-Sachs Disease Active, not recruiting NCT02851862
10 Biomarker for GM1/GM2 - Gangliosidoses Active, not recruiting NCT02298647

Search NIH Clinical Center for Gangliosidosis Gm2

Cochrane evidence based reviews: gangliosidoses, gm2

Genetic Tests for Gangliosidosis Gm2

Anatomical Context for Gangliosidosis Gm2

Publications for Gangliosidosis Gm2

Articles related to Gangliosidosis Gm2:

# Title Authors Year
1
[Studies on the molecular mechanism of GM(2) gangliosidosis]. ( 12673576 )
2003
2
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
3
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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 CTSA ETFA GAA GLB1 GM2A HEXA
2
Show member pathways
12.51 GAA GLB1 HEXA HEXB
3
Show member pathways
12.16 GLB1 HEXA HEXB
4
Show member pathways
11.76 CTSA GLB1 GM2A HEXA HEXB
5
Show member pathways
11.52 GLB1 HEXA HEXB
6
Show member pathways
11.38 HEXA HEXB
7 11.26 CTSA GAA GLB1 GM2A HEXA HEXB
8
Show member pathways
11.11 HEXA HEXB NAGA
9
Show member pathways
10.94 GLB1 HEXA HEXB
10
Show member pathways
10.73 GLB1 HEXA HEXB
11 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 9.86 CTSA ETFA GAA GLB1 GM2A HEXA
2 lysosome GO:0005764 9.5 CTSA GAA GLB1 GM2A HEXA HEXB
3 azurophil granule lumen GO:0035578 9.46 CTSA GLB1 GM2A HEXB
4 azurophil granule GO:0042582 9.32 HEXA HEXB
5 lysosomal lumen GO:0043202 9.1 CTSA GAA GLB1 GM2A HEXA HEXB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 GAA GLB1 HEXA HEXB NAGA
2 neutrophil degranulation GO:0043312 9.65 CTSA GAA GLB1 GM2A HEXB
3 carbohydrate metabolic process GO:0005975 9.55 GAA GLB1 HEXA HEXB NAGA
4 neuromuscular process controlling balance GO:0050885 9.54 GAA GM2A HEXB
5 positive regulation of catalytic activity GO:0043085 9.52 CTSA GM2A
6 lysosome organization GO:0007040 9.51 GAA HEXB
7 lipid storage GO:0019915 9.49 GM2A HEXB
8 hyaluronan catabolic process GO:0030214 9.48 HEXA HEXB
9 chondroitin sulfate catabolic process GO:0030207 9.46 HEXA HEXB
10 oligosaccharide catabolic process GO:0009313 9.43 GM2A HEXB
11 ganglioside catabolic process GO:0006689 9.4 GM2A HEXB
12 keratan sulfate catabolic process GO:0042340 9.13 GLB1 HEXA HEXB
13 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 9.8 CTSA GAA GLB1 GM2A HEXA HEXB
2 enzyme activator activity GO:0008047 9.43 CTSA GM2A
3 acetylglucosaminyltransferase activity GO:0008375 9.4 HEXA HEXB
4 exo-alpha-sialidase activity GO:0004308 9.37 CTSA GLB1
5 beta-N-acetylhexosaminidase activity GO:0004563 9.33 GM2A HEXA HEXB
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXA HEXB
7 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GAA GLB1 HEXB NAGA
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 GAA GLB1 HEXA HEXB NAGA

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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