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 20 58 36 54 39

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 ii. 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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and bone, 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 170)
# Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type iii 32.9 HEXB GLB1
2 gm1-gangliosidosis, type ii 32.5 HEXB GM2A GLB1 CTSA
3 gm2-gangliosidosis, ab variant 32.1 PSAP HEXB HEXA GM2A GLB1
4 gm1-gangliosidosis, type i 32.0 PSAP GLB1 ELN CHIT1
5 sandhoff disease 31.5 UGCG PSAP HEXB HEXA GM2A GLB1
6 gm2 gangliosidosis 31.1 UGCG PSAP NEU1 HEXB HEXA GM2A
7 tay-sachs disease 30.9 UGCG PSAP NEU1 HEXB HEXA GM2A
8 hydrops fetalis, nonimmune 29.8 NEU1 CTSA
9 mucopolysaccharidosis, type ivb 29.7 GLB1 GALNS CTSA
10 fabry disease 29.7 UGCG PSAP CHIT1
11 cerebral lipidosis 29.6 UGCG GLB1 CHIT1
12 gm1 gangliosidosis 29.6 UGCG TMPPE PSAP NEU1 HEXA GM2A
13 mucopolysaccharidosis iv 29.5 GLB1 GALNS CTSA
14 fucosidosis 29.5 GLB1 GALNS CHIT1
15 metachromatic leukodystrophy 29.5 PSAP HEXA GM2A
16 morquio syndrome 29.4 TMPPE NEU1 GLB1 GALNS CTSA
17 gaucher's disease 29.4 UGCG PSAP HEXA CHIT1
18 krabbe disease 29.4 UGCG PSAP GLB1 CHIT1
19 angiokeratoma 29.3 UGCG NEU1 CTSA
20 mucopolysaccharidosis, type iva 29.2 GLB1 GALNS CTSA
21 glycoproteinosis 29.0 PSAP NEU1 GLB1 GALNS CTSA
22 lipid storage disease 29.0 UGCG PSAP GLB1 CHIT1
23 niemann-pick disease 28.9 UGCG PSAP GM2A CHIT1
24 hurler syndrome 28.9 NEU1 GLB1 GALNS CTSA
25 sphingolipidosis 28.9 UGCG PSAP HEXB HEXA GM2A GLB1
26 lysosomal storage disease 28.8 PSAP NEU1 HEXB HEXA GM2A GLB1
27 galactosialidosis 28.8 PSAP NEU1 GLB1 GALNS CTSA CHIT1
28 mucopolysaccharidosis-plus syndrome 28.8 NEU1 HEXB HEXA GLB1 GALNS CTSA
29 mucolipidosis 28.5 PSAP NEU1 HEXA GALNS CTSA
30 generalized gangliosidoses 11.1
31 tay-sachs disease, b1 variant 11.1
32 gm2-gangliosidosis, b, b1, ab variant 11.1
33 gm2 gangliosidosis, 0 variant 11.0
34 tay-sachs disease, b variant, juvenile form 10.9
35 tay-sachs disease, b variant, infantile form 10.9
36 tay-sachs disease, b variant, adult form 10.9
37 neuronal ceroid-lipofuscinoses 10.9
38 dystonia 10.4
39 ataxia and polyneuropathy, adult-onset 10.4
40 glb1-related disorders 10.3
41 tremor 10.3
42 hypotonia 10.3
43 myoclonus 10.2
44 dysostosis 10.2
45 autosomal recessive disease 10.2
46 motor neuron disease 10.2
47 muscular atrophy 10.2
48 spasticity 10.2
49 posttransplant acute limbic encephalitis 10.2
50 lysosomal storage disease with skeletal involvement 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:

46
# 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 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-Infective Agents Phase 4
3 Anti-HIV Agents Phase 4
4 Cardiac Glycosides Phase 4
5 Antiviral Agents Phase 4
6 Anti-Retroviral Agents Phase 4
7 Hypoglycemic Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 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 Immunosuppressive Agents Phase 2, Phase 3
18 Methylprednisolone Acetate Phase 2, Phase 3
19 Immunologic Factors Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Alkylating Agents Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23
leucovorin Approved Phase 1, Phase 2 58-05-9 6006
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
tannic acid Approved Phase 2 1401-55-4
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
30
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
31
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
32
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
33
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
34
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
35
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
36
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 9552079 2713
37 Nutrients Phase 1, Phase 2
38 Micronutrients Phase 1, Phase 2
39 Trace Elements Phase 1, Phase 2
40 Vitamins Phase 1, Phase 2
41 Antidotes Phase 1, Phase 2
42 Antimetabolites Phase 2
43 Cyclosporins Phase 2
44 Dermatologic Agents Phase 2
45 Calcineurin Inhibitors Phase 2
46 Protective Agents Phase 1, Phase 2
47 Antifungal Agents Phase 1, Phase 2
48 Antineoplastic Agents, Immunological Phase 1, Phase 2
49 Gastrointestinal Agents Phase 1, Phase 2
50 Antibiotics, Antitubercular Phase 1, Phase 2

Interventional clinical trials:

(show all 23)
# 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 A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway Recruiting NCT04221451 Phase 3 venglustat GZ402671;placebo
5 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
6 Ganglioside-Monosialic Acid Prophylaxis for Cognitive Dysfunction Related to Whole Brain Radiotherapy in Breast Cancer Patients With Brain Metastases ,a Multi-center,Randomized,Single Blind,Phase III Clinical Trail Recruiting NCT04395339 Phase 3 Monosialotetrahexosyl ganglioside (GM1);Control
7 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
8 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
9 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
10 A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Recruiting NCT03952637 Phase 1, Phase 2 Rituximab;Sirolimus;Methylprednisolone;Prednisone
11 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
12 Phase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Subjects With Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 Gangliosidosis Not yet recruiting NCT04713475 Phase 1, Phase 2
13 An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human β-Galactosidase cDNA for Treatment of GM1 Gangliosidosis Not yet recruiting NCT04273269 Phase 1, Phase 2
14 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
15 A Natural History Study of the Gangliosidoses Completed NCT00668187
16 Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Recruiting NCT04310163
17 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Recruiting NCT02851862
18 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
19 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
20 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
23 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329

Search NIH Clinical Center for Gangliosidosis

Genetic Tests for Gangliosidosis

Anatomical Context for Gangliosidosis

MalaCards organs/tissues related to Gangliosidosis:

40
Bone Marrow, Brain, Bone, Liver, Eye, Globus Pallidus, Cerebellum

Publications for Gangliosidosis

Articles related to Gangliosidosis:

(show top 50) (show all 1352)
# 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)]. 61 54
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. 61 54
9603435 1998
6
Processing of sphingolipid activator proteins and the topology of lysosomal digestion. 54 61
9821868 1998
7
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. 54 61
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. 54 61
1634229 1992
9
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis. 61
33394287 2021
10
Morquio B disease: From pathophysiology towards diagnosis. 61
33558080 2021
11
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy. 61
33583210 2021
12
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry. 61
32506457 2021
13
Mongolian spots in GM1 gangliosidosis: a pictorial report. 61
33038107 2021
14
Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers. 61
32851809 2021
15
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders. 61
33422100 2021
16
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. 61
33407268 2021
17
The juvenile gangliosidoses: A timeline of clinical change. 61
33240792 2020
18
Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts. 61
33111489 2020
19
A Single Injection of an Optimized Adeno-Associated Viral Vector into Cerebrospinal Fluid Corrects Neurological Disease in a Murine Model of GM1 Gangliosidosis. 61
33045869 2020
20
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. 61
33266180 2020
21
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. 61
32779865 2020
22
Lyso-glycosphingolipids: presence and consequences. 61
32808655 2020
23
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease. 61
32951593 2020
24
Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice. 61
31481471 2020
25
Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency 61
32727849 2020
26
Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine. 61
32899288 2020
27
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. 61
32883051 2020
28
A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). 61
32746863 2020
29
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support. 61
32219895 2020
30
Utility of metabolic screening in neurological presentations of infancy. 61
32495504 2020
31
7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy. 61
31970203 2020
32
Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation. 61
32302553 2020
33
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. 61
32219518 2020
34
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
35
Natural History of Adult Patients with GM2 Gangliosidosis. 61
31995250 2020
36
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. 61
32295606 2020
37
Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis. 61
32252429 2020
38
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis. 61
31937438 2020
39
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. 61
31704340 2020
40
Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. 61
31964693 2020
41
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
42
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis. 61
31682993 2020
43
Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies. 61
32050523 2020
44
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. 61
32071839 2020
45
TRPML Cation Channels in Inflammation and Immunity. 61
32184778 2020
46
Characterization of glycan substrates accumulating in GM1 Gangliosidosis. 61
31720227 2019
47
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. 61
31761138 2019
48
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
49
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. 61
31852446 2019
50
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery. 61
31819150 2019

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 11.33 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 intracellular membrane-bounded organelle GO:0043231 9.85 PSAP NEU1 HEXA GM2A GLB1 CTSA
4 lysosome GO:0005764 9.61 PSAP NEU1 HEXB HEXA GM2A GLB1
5 azurophil granule lumen GO:0035578 9.55 HEXB GM2A GLB1 GALNS CTSA
6 azurophil granule GO:0042582 9.4 HEXB HEXA
7 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 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 UGCG PSAP NEU1 GM2A
2 carbohydrate metabolic process GO:0005975 9.8 NEU1 HEXB HEXA GLB1 CHIT1
3 neutrophil degranulation GO:0043312 9.76 PSAP NEU1 HEXB GM2A GLB1 GALNS
4 metabolic process GO:0008152 9.72 NEU1 HEXB HEXA GLB1 CHIT1
5 sphingolipid metabolic process GO:0006665 9.61 UGCG PSAP GM2A
6 keratan sulfate catabolic process GO:0042340 9.56 HEXB HEXA GLB1 GALNS
7 oligosaccharide catabolic process GO:0009313 9.54 NEU1 HEXB GM2A
8 neuromuscular process controlling balance GO:0050885 9.52 HEXB GM2A
9 lipid storage GO:0019915 9.49 HEXB GM2A
10 hyaluronan catabolic process GO:0030214 9.48 HEXB HEXA
11 chondroitin sulfate catabolic process GO:0030207 9.46 HEXB HEXA
12 ganglioside catabolic process GO:0006689 9.26 NEU1 HEXB HEXA GM2A
13 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 9.91 TMPPE NEU1 HEXB HEXA GM2A GLB1
2 enzyme activator activity GO:0008047 9.54 PSAP GM2A CTSA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.46 HEXB HEXA GLB1 CHIT1
4 acetylglucosaminyltransferase activity GO:0008375 9.43 HEXB HEXA
5 beta-galactosidase activity GO:0004565 9.4 PSAP GLB1
6 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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