MCID: GM2006
MIFTS: 46

Gm2 Gangliosidosis

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

Aliases & Classifications for Gm2 Gangliosidosis

MalaCards integrated aliases for Gm2 Gangliosidosis:

Name: Gm2 Gangliosidosis 12 58 54 15 32
Gangliosidoses, Gm2 44
Gangliosidosis Gm2 12

Characteristics:

Orphanet epidemiological data:

58
gm2 gangliosidosis
Prevalence: 1-9/1000000 (Sweden);

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:3321
MeSH 44 D020143
SNOMED-CT 67 33316007
ICD10 32 E75.0
ICD10 via Orphanet 33 E75.0
UMLS via Orphanet 71 C0039373 C0268274
Orphanet 58 ORPHA309152
UMLS 70 C0268274

Summaries for Gm2 Gangliosidosis

Disease Ontology : 12 A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.

MalaCards based summary : Gm2 Gangliosidosis, also known as gangliosidoses, gm2, is related to gm2-gangliosidosis, ab variant and gangliosidosis. An important gene associated with Gm2 Gangliosidosis is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of... more...

Related Diseases for Gm2 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 Gm2 Gangliosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 gm2-gangliosidosis, ab variant 32.4 PSAP OGA HEXB HEXA GM2A GLB1
2 gangliosidosis 32.2 UGCG PSAP NEU1 HEXB HEXA GM2A
3 lysosomal disease 30.8 NEU1 GBA
4 sandhoff disease 30.7 UGCG SMPD1 PSAP OGA NPC2 NPC1
5 tay-sachs disease 30.6 UGCG SMPD1 SMN1 PSAP OGA NPC2
6 neuronal ceroid lipofuscinosis 30.0 SMPD1 PSAP NPC2 NPC1 CLN6
7 lysosomal storage disease 29.8 SMPD1 PSAP NPC2 NPC1 NEU1 HEXB
8 gm1 gangliosidosis 29.0 UGCG SMPD1 PSAP OGA NPC2 NPC1
9 lipid storage disease 28.8 UGCG SMPD1 PSAP NPC2 NPC1 GLB1
10 sphingolipidosis 28.7 UGCG SMPD1 PSAP OGA NPC2 NPC1
11 tay-sachs disease, b1 variant 11.4
12 gm2-gangliosidosis, b, b1, ab variant 11.4
13 gm2 gangliosidosis, 0 variant 11.3
14 tay-sachs disease, b variant, juvenile form 11.2
15 tay-sachs disease, b variant, infantile form 11.2
16 tay-sachs disease, b variant, adult form 11.2
17 ataxia and polyneuropathy, adult-onset 10.6
18 motor neuron disease 10.4
19 muscular atrophy 10.4
20 tremor 10.4
21 hypotonia 10.4
22 spinal muscular atrophy 10.4
23 dystonia 10.4
24 spasticity 10.4
25 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
26 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
27 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
28 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
29 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
30 autosomal recessive disease 10.3
31 posttransplant acute limbic encephalitis 10.3
32 internuclear ophthalmoplegia 10.3 HEXA ERCC6
33 progressive muscular atrophy 10.3
34 pathologic nystagmus 10.3
35 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN1 HEXA GBA
36 fazio-londe disease 10.3 HEXA ETFA
37 gm1-gangliosidosis, type ii 10.3 HEXB GM2A GLB1
38 chronic inflammatory demyelinating polyneuritis 10.2 SMN1 HEXA
39 malignant pineal area germ cell neoplasm 10.2 NPC2 ASAH1
40 mucolipidosis iv 10.2 NPC2 NPC1 HEXA
41 acid sphingomyelinase deficiency 10.2 SMPD1 NPC1
42 mongolian spot 10.2 NEU1 GLB1 ERCC6
43 aspartylglucosaminuria 10.2 PSAP ERCC6 CLN6
44 charcot-marie-tooth disease, axonal, type 2v 10.2 GM2A GBA ASAH1
45 morquio syndrome 10.2 NEU1 GLB1
46 galactosialidosis 10.2 PSAP NEU1 GLB1
47 leukodystrophy, hypomyelinating, 5 10.2 GLB1 ERCC6
48 anterior horn cell disease 10.2 SMN1 HEXA
49 fucosidosis 10.2
50 alacrima, achalasia, and mental retardation syndrome 10.2

Graphical network of the top 20 diseases related to Gm2 Gangliosidosis:



Diseases related to Gm2 Gangliosidosis

Symptoms & Phenotypes for Gm2 Gangliosidosis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.62 ASAH1 GBA2
2 Decreased viability GR00249-S 9.62 ETFA GBA GLA HEXA HEXB
3 Decreased viability GR00381-A-1 9.62 ASAH1 GBA2 GLA NEU1 SMPD1 UGCG
4 Decreased viability GR00386-A-1 9.62 ASAH1 ERCC6 GBA2 HEXA NEU1
5 Decreased viability GR00402-S-2 9.62 GBA GLB1

MGI Mouse Phenotypes related to Gm2 Gangliosidosis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 ASAH1 CLN6 ERCC6 GBA GLA GLB1
2 growth/size/body region MP:0005378 10.4 ASAH1 CLN6 ERCC6 GBA GLA GLB1
3 cellular MP:0005384 10.39 ASAH1 ERCC6 GBA GBA2 GLA GLB1
4 homeostasis/metabolism MP:0005376 10.36 ASAH1 CLN6 ERCC6 GBA GBA2 GLA
5 mortality/aging MP:0010768 10.27 ASAH1 CLN6 ERCC6 GBA GLA GLB1
6 hematopoietic system MP:0005397 10.26 ASAH1 CLN6 ERCC6 GBA GLB1 HEXB
7 liver/biliary system MP:0005370 10.22 ASAH1 ERCC6 GBA GLA GLB1 HEXA
8 immune system MP:0005387 10.21 ASAH1 ERCC6 GBA GLA GLB1 HEXB
9 nervous system MP:0003631 10.16 ASAH1 CLN6 ERCC6 GBA GLA GLB1
10 muscle MP:0005369 9.87 ASAH1 ERCC6 GLA HEXB HHEX NEU1
11 renal/urinary system MP:0005367 9.76 ASAH1 GLA GLB1 HEXA HEXB NEU1
12 respiratory system MP:0005388 9.61 ASAH1 GBA HHEX NEU1 NPC1 NPC2
13 vision/eye MP:0005391 9.28 CLN6 ERCC6 GLA HEXA HEXB HHEX

Drugs & Therapeutics for Gm2 Gangliosidosis

Drugs for Gm2 Gangliosidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# 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 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Anti-HIV Agents Phase 4
6 Antiviral Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9
leucovorin Approved Phase 1, Phase 2 58-05-9 6006
10 Micronutrients Phase 1, Phase 2
11 Antidotes Phase 1, Phase 2
12 Trace Elements Phase 1, Phase 2
13 Nutrients Phase 1, Phase 2
14 Protective Agents Phase 1, Phase 2
15 Vitamins Phase 1, Phase 2
16
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106

Interventional clinical trials:

(show all 13)
# 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 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
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 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
6 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
7 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
8 Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis Recruiting NCT04798235 Phase 1, Phase 2
9 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
10 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Recruiting NCT02851862
11 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
12 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
13 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789

Search NIH Clinical Center for Gm2 Gangliosidosis

Cochrane evidence based reviews: gangliosidoses, gm2

Genetic Tests for Gm2 Gangliosidosis

Anatomical Context for Gm2 Gangliosidosis

MalaCards organs/tissues related to Gm2 Gangliosidosis:

40
Eye, Liver, Bone Marrow, Pancreas, Brain, Skin, Pineal

Publications for Gm2 Gangliosidosis

Articles related to Gm2 Gangliosidosis:

(show top 50) (show all 495)
# Title Authors PMID Year
1
Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. 61 54
18648917 2008
2
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency. 54 61
18808061 2008
3
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. 61 54
18772556 2008
4
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. 61 54
17557860 2007
5
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. 54 61
17251047 2007
6
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides. 54 61
16111643 2005
7
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. 61 54
15108204 2004
8
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family. 61 54
12654063 2003
9
Clinical implications of the genetics of ALS and other motor neuron diseases. 54 61
11460829 2001
10
The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci. 61 54
11339652 2000
11
Broad screening test for sphingolipid-storage diseases. 61 54
10489949 1999
12
Neuroimaging findings of four patients with Sandhoff disease. 61 54
10465144 1999
13
Requirement of GM2 ganglioside activator for phospholipase D activation. 54 61
9770472 1998
14
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene. 61 54
9153525 1997
15
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. 61 54
9272736 1997
16
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. 61 54
8950198 1996
17
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis. 61 54
10829910 1995
18
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. 54 61
8581357 1995
19
Tay-Sachs disease: a case report. 54 61
7732608 1995
20
GM2 activator protein expression in mouse tissues. 61 54
7980537 1994
21
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. 54 61
8403628 1993
22
Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings. 61 54
8428133 1993
23
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
24
Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. 61 54
1588014 1992
25
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]. 54 61
1302293 1992
26
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 54 61
1838393 1991
27
The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. 61 54
1825792 1991
28
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis. 61
33751187 2021
29
Sandhoff disease in the elderly: a case study. 61
33650927 2021
30
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases. 61
33669444 2021
31
Acetyl-leucine slows disease progression in lysosomal storage disorders. 61
33738443 2021
32
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. 61
33407268 2021
33
Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers. 61
32851809 2021
34
Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts. 61
33111489 2020
35
The juvenile gangliosidoses: A timeline of clinical change. 61
33240792 2020
36
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. 61
32883051 2020
37
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease. 61
32951593 2020
38
Lyso-glycosphingolipids: presence and consequences. 61
32808655 2020
39
A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). 61
32746863 2020
40
Natural History of Adult Patients with GM2 Gangliosidosis. 61
31995250 2020
41
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. 61
32295606 2020
42
Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. 61
31964693 2020
43
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
44
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
45
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. 61
31852446 2019
46
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
47
Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs. 61
31097363 2019
48
Unusual case of Juvenile Tay-Sachs disease. 61
31519716 2019
49
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 61
31367523 2019
50
Presynaptic Dysfunction in Neurons Derived from Tay-Sachs iPSCs. 61
31283907 2019

Variations for Gm2 Gangliosidosis

Expression for Gm2 Gangliosidosis

Search GEO for disease gene expression data for Gm2 Gangliosidosis.

Pathways for Gm2 Gangliosidosis

GO Terms for Gm2 Gangliosidosis

Cellular components related to Gm2 Gangliosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 SMPD1 PSAP NPC2 NPC1 NEU1 HEXB
2 extracellular region GO:0005576 10.02 SMPD1 PSAP NPC2 NPC1 NEU1 HEXB
3 intracellular membrane-bounded organelle GO:0043231 9.88 PSAP NEU1 HEXA GM2A GLB1 CLN6
4 lysosomal membrane GO:0005765 9.73 PSAP NPC1 NEU1 GBA
5 lysosomal lumen GO:0043202 9.7 SMPD1 PSAP NPC2 NEU1 HEXB HEXA
6 azurophil granule lumen GO:0035578 9.55 NPC2 HEXB GM2A GLB1 GLA
7 lysosome GO:0005764 9.4 SMPD1 PSAP NPC2 NPC1 NEU1 HEXB
8 azurophil granule GO:0042582 9.37 HEXB HEXA

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.02 UGCG PSAP NPC2 NPC1 NEU1 GM2A
2 neutrophil degranulation GO:0043312 10.01 PSAP NPC2 NEU1 HEXB GM2A GLB1
3 carbohydrate metabolic process GO:0005975 9.91 NEU1 HEXB HEXA GLB1 GLA GBA2
4 lipid transport GO:0006869 9.86 PSAP NPC2 NPC1 GM2A
5 steroid metabolic process GO:0008202 9.85 NPC2 NPC1 GBA2 GBA
6 cholesterol metabolic process GO:0008203 9.8 SMPD1 NPC2 NPC1 GBA2 GBA CLN6
7 lysosome organization GO:0007040 9.75 HEXB GBA CLN6
8 ceramide biosynthetic process GO:0046513 9.69 SMPD1 GBA ASAH1
9 lipid storage GO:0019915 9.67 HEXB GM2A GBA
10 keratan sulfate catabolic process GO:0042340 9.65 HEXB HEXA GLB1
11 low-density lipoprotein particle clearance GO:0034383 9.64 NPC2 NPC1
12 cholesterol transport GO:0030301 9.64 NPC2 NPC1
13 lysosomal transport GO:0007041 9.63 PSAP NPC1
14 hyaluronan catabolic process GO:0030214 9.63 HEXB HEXA
15 oligosaccharide catabolic process GO:0009313 9.63 NEU1 HEXB GM2A
16 sphingolipid metabolic process GO:0006665 9.63 UGCG PSAP GM2A GBA2 GBA ASAH1
17 bile acid metabolic process GO:0008206 9.62 NPC1 GBA2
18 sphingosine biosynthetic process GO:0046512 9.62 GBA ASAH1
19 chondroitin sulfate catabolic process GO:0030207 9.61 HEXB HEXA
20 glycosaminoglycan metabolic process GO:0030203 9.61 HEXB CLN6
21 metabolic process GO:0008152 9.61 SMPD1 OGA NEU1 HEXB HEXA GLB1
22 intracellular cholesterol transport GO:0032367 9.6 NPC2 NPC1
23 lipid glycosylation GO:0030259 9.59 GBA2 GBA
24 glycoside catabolic process GO:0016139 9.58 GLA GBA2
25 ganglioside metabolic process GO:0001573 9.57 GM2A CLN6
26 ganglioside catabolic process GO:0006689 9.56 NEU1 HEXB HEXA GM2A
27 termination of signal transduction GO:0023021 9.54 SMPD1 GBA
28 glucosylceramide catabolic process GO:0006680 9.52 GBA2 GBA
29 glycosphingolipid metabolic process GO:0006687 9.4 UGCG SMPD1 PSAP NEU1 HEXB HEXA

Molecular functions related to Gm2 Gangliosidosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.93 SMPD1 OGA NEU1 HEXB HEXA GM2A
2 protein homodimerization activity GO:0042803 9.91 PSAP HHEX GLB1 GLA CLN6
3 galactoside binding GO:0016936 9.49 GLB1 GLA
4 glucosyltransferase activity GO:0046527 9.48 GBA2 GBA
5 beta-glucosidase activity GO:0008422 9.46 GBA2 GBA
6 beta-galactosidase activity GO:0004565 9.43 PSAP GLB1
7 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXB HEXA GM2A
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.4 HEXB HEXA
9 glucosylceramidase activity GO:0004348 9.37 GBA2 GBA
10 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.35 HEXB HEXA GLB1 GLA GBA2
11 steryl-beta-glucosidase activity GO:0050295 9.32 GBA2 GBA
12 hydrolase activity, acting on glycosyl bonds GO:0016798 9.28 SMPD1 OGA NEU1 HEXB HEXA GLB1

Sources for Gm2 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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