MCID: GNG009
MIFTS: 47

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 54 38 56

Classifications:



External Ids:

KEGG 38 H00426

Summaries for Gangliosidosis

MalaCards based summary : Gangliosidosis is related to sandhoff disease and tay-sachs disease. 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 : 77 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 73)
# Related Disease Score Top Affiliating Genes
1 sandhoff disease 33.1 GM2A HEXA HEXB UGCG
2 tay-sachs disease 32.0 CTSA GLB1 GM2A HEXA HEXB NEU1
3 cerebral lipidosis 30.2 GLB1 HEXA
4 metachromatic leukodystrophy 29.8 HEXA PSAP
5 galactosialidosis 29.8 CTSA GLB1 NEU1
6 mucopolysaccharidosis-plus syndrome 29.4 GALNS HEXA
7 lysosomal storage disease 29.2 CTSA GALNS GLB1 HEXA HEXB NEU1
8 mucolipidosis iv 28.6 CTSA GALNS GLB1 GM2A HEXA HEXB
9 gm1 gangliosidosis 12.8
10 gm2 gangliosidosis 12.6
11 gm1-gangliosidosis, type iii 12.5
12 gm1-gangliosidosis, type ii 12.4
13 gm1-gangliosidosis, type i 12.4
14 gm2-gangliosidosis, ab variant 12.2
15 gm2 gangliosidosis, 0 variant 12.2
16 tay-sachs disease, b1 variant 11.6
17 tay-sachs disease, b variant, juvenile form 11.4
18 tay-sachs disease, b variant, infantile form 11.4
19 tay-sachs disease, b variant, adult form 11.4
20 generalized gangliosidoses 11.3
21 dystonia 10.4
22 motor neuron disease 10.3
23 gaucher disease, perinatal lethal 10.2 CTSA HEXA
24 mannosidosis, alpha b, lysosomal 10.2 CTSA HEXA
25 fucosidosis 10.2 CTSA HEXA
26 mannosidosis, beta a, lysosomal 10.1 CTSA HEXA
27 aspartylglucosaminuria 10.1 CTSA HEXA
28 dementia 10.0
29 neuronal ceroid lipofuscinosis 10.0
30 muscular atrophy 10.0
31 depression 10.0
32 lipid storage disease 10.0 GLB1 HEXA PSAP
33 inclusion-cell disease 10.0 CTSA GLB1 PSAP
34 mucolipidosis ii alpha/beta 9.9 GM2A NEU1 PSAP
35 krabbe disease 9.9 CHIT1 PSAP
36 dystonia 12 9.9
37 prader-willi syndrome 9.9
38 friedreich ataxia 1 9.9
39 hydrocephalus, normal-pressure 9.9
40 3-methylglutaconic aciduria, type iii 9.9
41 insulin-like growth factor i 9.9
42 dihydropyrimidine dehydrogenase deficiency 9.9
43 fabry disease 9.9
44 alpha-1-antitrypsin deficiency 9.9
45 lymphatic malformation 7 9.9
46 dilated cardiomyopathy 9.9
47 hydrocephalus 9.9
48 spinal muscular atrophy 9.9
49 basal ganglia calcification 9.9
50 neurodegeneration with brain iron accumulation 9.9

Graphical network of the top 20 diseases related to Gangliosidosis:



Diseases related to Gangliosidosis

Symptoms & Phenotypes for Gangliosidosis

MGI Mouse Phenotypes related to Gangliosidosis:

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

Interventional clinical trials:

(show all 23)
# 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 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
7 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
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 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
16 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
17 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
18 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
19 Biomarker for Gangliosidosis: BioGM1 / BioGM2 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
23 Screening of Lysosomal Storage Disorders Diseases in Minority Groups Active, not recruiting NCT03812042

Search NIH Clinical Center for Gangliosidosis

Genetic Tests for Gangliosidosis

Anatomical Context for Gangliosidosis

MalaCards organs/tissues related to Gangliosidosis:

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

Publications for Gangliosidosis

Articles related to Gangliosidosis:

(show top 50) (show all 692)
# Title Authors Year
1
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. ( 30528226 )
2019
2
THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO). ( 29900785 )
2018
3
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
4
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. ( 29106755 )
2018
5
Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle. ( 29503341 )
2018
6
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. ( 29160035 )
2018
7
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. ( 29448188 )
2018
8
Genetics and Therapies for GM2 Gangliosidosis. ( 29618308 )
2018
9
Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis. ( 29720806 )
2018
10
Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis. ( 29987186 )
2018
11
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. ( 30187681 )
2018
12
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. ( 30267299 )
2018
13
Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis. ( 30271472 )
2018
14
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. ( 30369755 )
2018
15
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. ( 30555092 )
2018
16
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing. ( 30581635 )
2018
17
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal I^-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. ( 27750150 )
2017
18
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency. ( 28192816 )
2017
19
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model. ( 28236574 )
2017
20
N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant. ( 28319682 )
2017
21
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
22
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. ( 28577204 )
2017
23
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols. ( 28600215 )
2017
24
GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. ( 28833537 )
2017
25
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. ( 26765271 )
2016
26
Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful I^-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal I^-galactosidase. ( 26838810 )
2016
27
5-Fluoro derivatives of 4-epi-isofagomine as D-galactosidase inhibitors and potential pharmacological chaperones for GM1-gangliosidosis as well as Fabry's disease. ( 26717544 )
2016
28
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel I^-galactosidase:RTB lectin fusion. ( 26766614 )
2016
29
Peripheral blood findings in GM1 gangliosidosis. ( 28092877 )
2016
30
Mongolian Spots in GM1 Gangliosidosis. ( 28064276 )
2016
31
Protease-resistant modified human I^-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. ( 27018595 )
2016
32
CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. ( 27841233 )
2016
33
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. ( 27402091 )
2016
34
Animal models of GM2 gangliosidosis: utility and limitations. ( 27499644 )
2016
35
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. ( 26646981 )
2016
36
Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable I^-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal I^-galactosidase mutant R201C. ( 27063389 )
2016
37
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. ( 27043200 )
2016
38
Systemic Gene Transfer of a Hexosaminidase Variant Using a scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice. ( 27199088 )
2016
39
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis. ( 25694553 )
2015
40
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15. ( 25900722 )
2015
41
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. ( 26082327 )
2015
42
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. ( 26234889 )
2015
43
Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients. ( 25851126 )
2015
44
White matter changes in GM1 gangliosidosis. ( 25691190 )
2015
45
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. ( 25443580 )
2015
46
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. ( 25964428 )
2015
47
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. ( 26337817 )
2015
48
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation. ( 25925601 )
2015
49
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. ( 26108645 )
2015
50
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. ( 25916337 )
2015

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:

38
# 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
13.71 CHIT1 CTSA GALNS GLB1 GM2A HEXB
2
Show member pathways
13.7 CHIT1 CTSA GALNS GLB1 GM2A HEXA
3
Show member pathways
12.53 CHIT1 GLB1 HEXA HEXB
4
Show member pathways
11.96 CTSA GLB1 GM2A HEXA HEXB NEU1
5
Show member pathways
11.92 CTSA GLB1 NEU1
6
Show member pathways
11.55 GLB1 HEXA HEXB
7
Show member pathways
11.47 CHIT1 HEXA HEXB
8 11.32 CTSA GALNS GLB1 GM2A HEXA HEXB
9
Show member pathways
11.06 HEXA HEXB
10
Show member pathways
10.94 GLB1 HEXA HEXB
11
Show member pathways
10.86 GALNS GLB1 HEXA HEXB
12 10.71 GLB1 HEXA HEXB NEU1

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 CTSA GALNS GLB1 GM2A HEXA HEXB
2 extracellular region GO:0005576 9.91 CHIT1 CTSA ELN GALNS GLB1 GM2A
3 lysosome GO:0005764 9.61 CHIT1 CTSA GALNS GLB1 GM2A HEXA
4 azurophil granule lumen GO:0035578 9.55 CTSA GALNS GLB1 GM2A HEXB
5 azurophil granule GO:0042582 9.37 HEXA HEXB
6 lysosomal lumen GO:0043202 9.23 CTSA GALNS GLB1 GM2A HEXA HEXB

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 GM2A NEU1 PSAP UGCG
2 carbohydrate metabolic process GO:0005975 9.8 CHIT1 GLB1 HEXA HEXB NEU1
3 metabolic process GO:0008152 9.77 CHIT1 GLB1 HEXA HEXB NEU1
4 sphingolipid metabolic process GO:0006665 9.61 GM2A PSAP UGCG
5 neutrophil degranulation GO:0043312 9.56 CHIT1 CTSA GALNS GLB1 GM2A HEXB
6 neuromuscular process controlling balance GO:0050885 9.54 GM2A HEXB
7 lipid storage GO:0019915 9.51 GM2A HEXB
8 oligosaccharide catabolic process GO:0009313 9.5 GM2A HEXB NEU1
9 hyaluronan catabolic process GO:0030214 9.49 HEXA HEXB
10 chondroitin sulfate catabolic process GO:0030207 9.48 HEXA HEXB
11 positive regulation of catalytic activity GO:0043085 9.46 CTSA GM2A
12 keratan sulfate catabolic process GO:0042340 9.46 GALNS GLB1 HEXA HEXB
13 ganglioside catabolic process GO:0006689 9.43 GM2A HEXB NEU1
14 glycosphingolipid metabolic process GO:0006687 9.23 CTSA GLB1 GM2A HEXA HEXB NEU1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 CHIT1 CTSA GALNS GLB1 GM2A HEXA
2 enzyme activator activity GO:0008047 9.58 CTSA GM2A PSAP
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 CHIT1 GLB1 HEXB
4 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXA HEXB
5 beta-galactosidase activity GO:0004565 9.43 GLB1 PSAP
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.37 HEXA HEXB
7 exo-alpha-sialidase activity GO:0004308 9.16 CTSA NEU1
8 beta-N-acetylhexosaminidase activity GO:0004563 9.13 GM2A HEXA HEXB
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 CHIT1 GLB1 HEXA HEXB NEU1

Sources for Gangliosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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