MCID: GNG009
MIFTS: 44

Gangliosidosis

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

Aliases & Classifications for Gangliosidosis

MalaCards integrated aliases for Gangliosidosis:

Name: Gangliosidosis 52 58 36 54

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

KEGG 36 H00426
ICD10 via Orphanet 33 E75.0 E75.1
UMLS via Orphanet 72 C0017083
Orphanet 58 ORPHA309144

Summaries for Gangliosidosis

KEGG : 36 Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes or their activators that play important roles in the degradation of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. And saposin C is an activator of beta-glucocerebrosidase.

MalaCards based summary : Gangliosidosis is related to gm1-gangliosidosis, type iii and gm1-gangliosidosis, type i. An important gene associated with Gangliosidosis is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Other glycan degradation and Glycosphingolipid biosynthesis - ganglio series. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, and related phenotypes are behavior/neurological and liver/biliary system

Wikipedia : 74 Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids... more...

Related Diseases for 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 Gangliosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type iii 34.0 HEXB GLB1 CTSA
2 gm1-gangliosidosis, type i 33.4 PSAP NEU1 HEXA GLB1
3 gm2-gangliosidosis, ab variant 33.3 HEXB HEXA GM2A GLB1
4 gm1-gangliosidosis, type ii 33.1 HEXB GM2A GLB1 GALNS
5 gm2 gangliosidosis 32.3 UGCG PSAP NEU1 HEXB HEXA GM2A
6 sandhoff disease 32.2 UGCG PSAP HEXB HEXA GM2A CTSA
7 tay-sachs disease 31.4 UGCG PSAP NEU1 HEXB HEXA GM2A
8 galactosialidosis 30.3 NEU1 GLB1 CTSA
9 gm1 gangliosidosis 30.0 UGCG TMPPE PSAP NEU1 HEXA GM2A
10 cerebral lipidosis 30.0 GLB1 CHIT1
11 angiokeratoma 29.8 NEU1 CTSA
12 neuraminidase deficiency 29.8 PSAP NEU1 GLB1 CTSA
13 mucopolysaccharidosis-plus syndrome 29.7 HEXB HEXA GLB1 GALNS
14 mucopolysaccharidosis iv 29.5 GLB1 GALNS
15 metachromatic leukodystrophy 29.3 PSAP HEXA GM2A CTSA
16 fabry disease 29.2 UGCG PSAP CHIT1
17 scheie syndrome 29.0 GLB1 GALNS ELN
18 morquio syndrome 29.0 TMPPE NEU1 GLB1 GALNS CTSA
19 glycoproteinosis 28.7 PSAP NEU1 GLB1 GALNS CTSA
20 mucolipidosis 28.3 PSAP NEU1 HEXA GALNS CTSA
21 lipid storage disease 28.3 UGCG PSAP HEXA GLB1 CTSA CHIT1
22 lysosomal storage disease 28.0 PSAP NEU1 HEXB HEXA GM2A GLB1
23 sphingolipidosis 28.0 UGCG PSAP HEXB HEXA GM2A GLB1
24 gm2 gangliosidosis, 0 variant 12.3
25 tay-sachs disease, b variant, juvenile form 11.5
26 tay-sachs disease, b variant, infantile form 11.5
27 tay-sachs disease, b1 variant 11.5
28 tay-sachs disease, b variant, adult form 11.5
29 generalized gangliosidoses 11.4
30 neuronal ceroid-lipofuscinoses 11.2
31 ataxia and polyneuropathy, adult-onset 10.6
32 dystonia 10.6
33 glb1-related disorders 10.4
34 tremor 10.4
35 hypotonia 10.4
36 myoclonus 10.3
37 autosomal recessive disease 10.3
38 dysostosis 10.3
39 motor neuron disease 10.3
40 muscular atrophy 10.3
41 spasticity 10.3
42 posttransplant acute limbic encephalitis 10.3
43 lysosomal disease 10.2
44 gallbladder papillomatosis 10.2 HEXB GM2A
45 atrial standstill 1 10.2
46 aceruloplasminemia 10.2
47 spinal muscular atrophy 10.2
48 neuronal ceroid lipofuscinosis 10.2
49 inherited metabolic disorder 10.2
50 pathologic nystagmus 10.2

Graphical network of the top 20 diseases related to Gangliosidosis:



Diseases related to Gangliosidosis

Symptoms & Phenotypes for Gangliosidosis

MGI Mouse Phenotypes related to Gangliosidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CTSA GLB1 GM2A HEXA HEXB NEU1
2 liver/biliary system MP:0005370 9.43 CTSA GLB1 HEXA HEXB NEU1 PSAP
3 renal/urinary system MP:0005367 9.23 CTSA GALNS GLB1 HEXA HEXB NEU1

Drugs & Therapeutics for Gangliosidosis

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
3 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Anti-HIV Agents Phase 4
6 Glycoside Hydrolase Inhibitors Phase 4
7 Cardiac Glycosides Phase 4
8 Antiviral Agents Phase 4
9
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
14
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
15
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Immunologic Factors Phase 2, Phase 3
18 Alkylating Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Methylprednisolone Acetate Phase 2, Phase 3
23 Anti-Infective Agents Phase 3
24
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
25
Melphalan Approved Phase 2 148-82-3 4053 460612
26
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
27
tannic acid Approved Phase 2 1401-55-4
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
30
Hydroxyurea Approved Phase 2 127-07-1 3657
31 Dermatologic Agents Phase 2
32 Antimetabolites Phase 2
33 Antifungal Agents Phase 2
34 Cyclosporins Phase 2
35 Antineoplastic Agents, Immunological Phase 2
36 Calcineurin Inhibitors Phase 2
37
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
38
Mycophenolic acid Approved 24280-93-1 446541
39 Antitubercular Agents
40 Anti-Bacterial Agents
41 polysaccharide-K
42 Protective Agents
43 Antibiotics, Antitubercular
44 Radiation-Protective Agents
45 Adjuvants, Immunologic
46 interferons
47 Interferon Inducers

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
5 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
6 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
7 Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759665 Phase 2 IB1001
10 A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 Gangliosidosis Recruiting NCT03952637 Phase 1, Phase 2
11 A Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants) Withdrawn NCT00679744 Phase 1 Pyrimethamine
12 A Natural History Study of the Gangliosidoses Completed NCT00668187
13 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
14 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
15 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
16 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
17 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Active, not recruiting NCT02851862
18 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Not yet recruiting NCT04041102

Search NIH Clinical Center for Gangliosidosis

Genetic Tests for Gangliosidosis

Anatomical Context for Gangliosidosis

MalaCards organs/tissues related to Gangliosidosis:

40
Brain, Liver, Skin, Bone, Bone Marrow, Testes, Eye

Publications for Gangliosidosis

Articles related to Gangliosidosis:

(show top 50) (show all 1321)
# Title Authors PMID Year
1
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine. 54 61
17625939 2008
2
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. 54 61
15108204 2004
3
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]. 54 61
14997456 2004
4
[Studies on the molecular mechanism of GM(2) gangliosidosis]. 61 54
12673576 2003
5
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. 54 61
9603435 1998
6
Processing of sphingolipid activator proteins and the topology of lysosomal digestion. 61 54
9821868 1998
7
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. 61 54
8403628 1993
8
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders. 61 54
1634229 1992
9
Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. 61
31534909 2019
10
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery. 61
31819150 2019
11
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. 61
31852446 2019
12
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. 61
31761138 2019
13
Characterization of glycan substrates accumulating in GM1 Gangliosidosis. 61
31720227 2019
14
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. 61
31704340 2019
15
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: Implications for in vivo end ex vivo gene therapy of GM2 gangliosidosis. 61
31682993 2019
16
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. 61
31776384 2019
17
Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases. 61
31384936 2019
18
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 61
31367523 2019
19
Unusual case of Juvenile Tay-Sachs disease. 61
31519716 2019
20
Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs. 61
31097363 2019
21
Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice. 61
31481471 2019
22
Clinical findings in Brazilian patients with adult GM1 gangliosidosis. 61
31497487 2019
23
Presynaptic Dysfunction in Neurons Derived from Tay-Sachs iPSCs. 61
31283907 2019
24
Membrane lipids and their degradation compounds control GM2 catabolism at intralysosomal luminal vesicles. 61
30988135 2019
25
Lysosomal Glycosphingolipid Storage Diseases. 61
31220974 2019
26
Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models. 61
31261761 2019
27
Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis. 61
31036581 2019
28
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase. 61
30712135 2019
29
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]. 61
30703229 2019
30
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. 61
30528226 2019
31
Neurite atrophy and apoptosis mediated by PERK signaling after accumulation of GM2-ganglioside. 61
30389374 2019
32
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 61
30675867 2019
33
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 61
30555092 2018
34
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 61
30267299 2018
35
4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations. 61
30270003 2018
36
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. 61
30187681 2018
37
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). 61
30317186 2018
38
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. 61
30369755 2018
39
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition. 61
30094186 2018
40
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. 61
30075786 2018
41
Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis. 61
29987186 2018
42
Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis. 61
30271472 2018
43
THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO). 61
29900785 2018
44
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. 61
29476731 2018
45
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 61
29439846 2018
46
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. 61
29396849 2018
47
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. 61
29448188 2018
48
Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle. 61
29503341 2018
49
Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease. 61
29478290 2018
50
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 61
29352662 2018

Variations for Gangliosidosis

Expression for Gangliosidosis

Search GEO for disease gene expression data for Gangliosidosis.

Pathways for Gangliosidosis

Pathways related to Gangliosidosis according to KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Glycosphingolipid biosynthesis - ganglio series hsa00604
3 Glycosaminoglycan degradation hsa00531
4 Sphingolipid metabolism hsa00600
5 Lysosome hsa04142

Pathways related to Gangliosidosis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 UGCG PSAP NEU1 HEXB HEXA GM2A
2
Show member pathways
13.65 PSAP NEU1 HEXB GM2A GLB1 GALNS
3
Show member pathways
12.55 HEXB HEXA GLB1 CHIT1
4
Show member pathways
11.96 UGCG PSAP NEU1 HEXB HEXA GM2A
5
Show member pathways
11.94 NEU1 GLB1 CTSA
6
Show member pathways
11.55 HEXB HEXA GLB1
7
Show member pathways
11.47 HEXB HEXA CHIT1
8 11.32 PSAP NEU1 HEXB HEXA GM2A GLB1
9
Show member pathways
11.08 HEXB HEXA
10
Show member pathways
10.94 HEXB HEXA GLB1
11
Show member pathways
10.86 HEXB HEXA GLB1 GALNS
12 10.71 NEU1 HEXB HEXA GLB1

GO Terms for Gangliosidosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 PSAP NEU1 HEXB HEXA GM2A GLB1
2 extracellular region GO:0005576 9.91 PSAP NEU1 HEXB GM2A GLB1 GALNS
3 lysosome GO:0005764 9.61 PSAP NEU1 HEXB HEXA GM2A GLB1
4 azurophil granule lumen GO:0035578 9.55 HEXB GM2A GLB1 GALNS CTSA
5 azurophil granule GO:0042582 9.37 HEXB HEXA
6 lysosomal lumen GO:0043202 9.23 PSAP NEU1 HEXB HEXA GM2A GLB1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 UGCG PSAP NEU1 GM2A
2 carbohydrate metabolic process GO:0005975 9.8 NEU1 HEXB HEXA GLB1 CHIT1
3 metabolic process GO:0008152 9.72 NEU1 HEXB HEXA GLB1 CHIT1
4 sphingolipid metabolic process GO:0006665 9.65 UGCG PSAP GM2A
5 neuromuscular process controlling balance GO:0050885 9.61 PSAP HEXB GM2A
6 neutrophil degranulation GO:0043312 9.56 PSAP NEU1 HEXB GM2A GLB1 GALNS
7 lipid storage GO:0019915 9.54 HEXB GM2A
8 oligosaccharide catabolic process GO:0009313 9.54 NEU1 HEXB GM2A
9 hyaluronan catabolic process GO:0030214 9.52 HEXB HEXA
10 chondroitin sulfate catabolic process GO:0030207 9.51 HEXB HEXA
11 positive regulation of hydrolase activity GO:0051345 9.49 PSAP GM2A
12 cornified envelope assembly GO:1903575 9.46 UGCG PSAP
13 keratan sulfate catabolic process GO:0042340 9.46 HEXB HEXA GLB1 GALNS
14 ganglioside catabolic process GO:0006689 9.43 NEU1 HEXB GM2A
15 glycosphingolipid metabolic process GO:0006687 9.23 UGCG PSAP NEU1 HEXB HEXA GM2A

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.81 TMPPE NEU1 HEXB HEXA GM2A GLB1
2 enzyme activator activity GO:0008047 9.5 PSAP GM2A CTSA
3 acetylglucosaminyltransferase activity GO:0008375 9.43 HEXB HEXA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 HEXB CHIT1
5 beta-galactosidase activity GO:0004565 9.37 PSAP GLB1
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.26 HEXB HEXA
7 beta-N-acetylhexosaminidase activity GO:0004563 9.13 HEXB HEXA GM2A
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 NEU1 HEXB HEXA GLB1 CHIT1

Sources for Gangliosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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