MCID: GNG010
MIFTS: 35

Gangliosidosis Gm2

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

Aliases & Classifications for Gangliosidosis Gm2

MalaCards integrated aliases for Gangliosidosis Gm2:

Name: Gangliosidosis Gm2 12 14
Gm>2< Gangliosidosis 12
Gangliosidoses, Gm2 41

Classifications:



External Ids:

Disease Ontology 12 DOID:3321
ICD10 32 E75.0 E75.00
MeSH 41 D020143
SNOMED-CT 64 33316007
UMLS 69 C0268274

Summaries for Gangliosidosis Gm2

MalaCards based summary : Gangliosidosis Gm2, also known as gm>2< gangliosidosis, is related to gm2-gangliosidosis, ab variant and tay-sachs disease. An important gene associated with Gangliosidosis Gm2 is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Sphingolipid metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Related phenotype is liver/biliary 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 CTSA GLB1 HEXA HEXB HHEX

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 Anti-HIV Agents Phase 4,Phase 3,Phase 2
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Anti-Retroviral 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 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
9 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
10
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
12
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 143 6006
13 Antimalarials Phase 1, Phase 2
14 Antiparasitic Agents Phase 1, Phase 2
15 Antiprotozoal Agents Phase 1, Phase 2
16 Folic Acid Antagonists Phase 1, Phase 2
17 Vitamin B Complex 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 of Late Onset Tay-Sachs Disease Recruiting NCT02851862
8 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
9 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
10 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

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
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
3
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

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
12.12 GLB1 HEXA HEXB
2
Show member pathways
11.76 CTSA GLB1 GM2A HEXA HEXB
3
Show member pathways
11.52 GLB1 HEXA HEXB
4
Show member pathways
11.34 HEXA HEXB
5 11.19 CTSA GLB1 GM2A HEXA HEXB NAGA
6
Show member pathways
11.11 HEXA HEXB NAGA
7
Show member pathways
10.94 GLB1 HEXA HEXB
8
Show member pathways
10.73 GLB1 HEXA HEXB
9 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 9.87 CTSA ETFA GLB1 GM2A HEXA HEXB
2 azurophil granule lumen GO:0035578 9.46 CTSA GLB1 GM2A HEXB
3 lysosome GO:0005764 9.43 CTSA GLB1 GM2A HEXA HEXB NAGA
4 azurophil granule GO:0042582 9.26 HEXA HEXB
5 lysosomal lumen GO:0043202 9.02 CTSA GLB1 GM2A HEXA HEXB

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 metabolic process GO:0008152 9.55 GLB1 HEXA HEXB MGEA5 NAGA
4 neuromuscular process controlling balance GO:0050885 9.49 GM2A HEXB
5 lipid storage GO:0019915 9.48 GM2A HEXB
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 9.8 CTSA GLB1 GM2A HEXA HEXB MGEA5
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 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 GLB1 HEXB NAGA
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXA HEXB
7 beta-N-acetylhexosaminidase activity GO:0004563 9.13 GM2A HEXA HEXB
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 GLB1 HEXA HEXB MGEA5 NAGA

Sources for Gangliosidosis Gm2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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