MCID: GNG001
MIFTS: 61

Gangliosidosis Gm1

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

Aliases & Classifications for Gangliosidosis Gm1

MalaCards integrated aliases for Gangliosidosis Gm1:

Name: Gangliosidosis Gm1 12 55 15 73
Gm1 Gangliosidosis 12 53 25 59 37 29 6
Beta-Galactosidase Deficiency 12 73
Beta-Galactosidase-1 Deficiency 25
Deficiency of Beta-Galactosidase 12
Beta-Galactosidase-1 Deficiency 59
Beta Galactosidase 1 Deficiency 53
Galactosidase, Beta-1 13
Gm>1< Gangliosidosis 12
Beta-Galactosidosis 53
Gangliosidosis, Gm1 44
Landing Syndrome 12
Glb 1 Deficiency 53
Glb1 Deficiency 59
Landing Disease 59

Characteristics:

Orphanet epidemiological data:

59
gm1 gangliosidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Malta),1-9/100000 (Brazil),1-9/1000000 (Sweden); Age of onset: Childhood; Age of death: any age;

Classifications:



Summaries for Gangliosidosis Gm1

NIH Rare Diseases : 53 GM1 gangliosidosis is an inheritedlysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.

MalaCards based summary : Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to krabbe disease and galactosialidosis. An important gene associated with Gangliosidosis Gm1 is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Other glycan degradation and Glycosaminoglycan degradation. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are frontal bossing and abnormality of epiphysis morphology

Genetics Home Reference : 25 GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Related Diseases for Gangliosidosis Gm1

Diseases in the Gangliosidosis Gm2 family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gangliosidosis Gm1 Gm2 Gangliosidosis, 0 Variant
Gm2-Gangliosidosis, B, B1, Ab Variant

Diseases related to Gangliosidosis Gm1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 krabbe disease 33.2 ARSA PSAP
2 galactosialidosis 32.5 CTSA GLB1 NEU1
3 mucolipidosis ii alpha/beta 30.4 NEU1 PSAP
4 glycoproteinosis 30.2 CTSA GLB1 NEU1 PSAP
5 angiokeratoma 30.1 CTSA GLA
6 fabry disease 30.0 GLA PSAP
7 morquio syndrome 30.0 GALNS GLB1
8 neuraminidase deficiency 29.7 CTSA GLB1 NEU1 PSAP
9 mucopolysaccharidosis iv 29.5 CTSA GALNS GLB1 NEU1
10 lysosomal storage disease 29.1 ARSA CTSA GALNS GLA GLB1 HEXA
11 gm1-gangliosidosis, type ii 12.4
12 gm1-gangliosidosis, type i 11.9
13 gm1-gangliosidosis, type iii 11.7
14 generalized gangliosidoses 11.6
15 dystonia 10.6
16 neuronal ceroid lipofuscinosis 10.3
17 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
18 aceruloplasminemia 10.2
19 myoclonus 10.2
20 cerebral lipidosis 10.2 GLB1 HEXA
21 3-methylglutaconic aciduria, type iii 10.1
22 insulin-like growth factor i 10.1
23 alpha-1-antitrypsin deficiency 10.1
24 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
25 dilated cardiomyopathy 10.1
26 basal ganglia calcification 10.1
27 dementia 10.1
28 myopathy 10.1
29 fetal edema 10.1
30 hydrops fetalis 10.1
31 cerebral atrophy 10.1
32 rhombencephalosynapsis 10.1
33 metachromatic leukodystrophy, late infantile form 10.1 ARSA PSAP
34 metachromatic leukodystrophy, juvenile form 10.1 ARSA PSAP
35 metachromatic leukodystrophy, adult form 10.1 ARSA PSAP
36 gaucher disease, type i 10.1 HEXA PSAP
37 gaucher disease, perinatal lethal 10.0 CTSA HEXA
38 mannosidosis, alpha b, lysosomal 10.0 CTSA HEXA
39 fucosidosis 10.0 CTSA HEXA
40 adrenoleukodystrophy 10.0
41 hurler syndrome 10.0
42 mucolipidoses 10.0
43 epilepsy 10.0
44 osteochondrodysplasia 10.0
45 adrenomyeloneuropathy 10.0
46 myoclonus epilepsy 10.0
47 mannosidosis, beta a, lysosomal 10.0 CTSA HEXA
48 aspartylglucosaminuria 10.0 CTSA HEXA
49 metachromatic leukodystrophy 10.0 ARSA HEXA PSAP
50 gangliosidosis gm2 9.9 CTSA GLB1 HEXA

Graphical network of the top 20 diseases related to Gangliosidosis Gm1:



Diseases related to Gangliosidosis Gm1

Symptoms & Phenotypes for Gangliosidosis Gm1

Human phenotypes related to Gangliosidosis Gm1:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
8 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
9 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
10 encephalitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002383
11 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
12 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
13 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
14 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
15 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
16 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
17 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
18 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
19 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
20 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
21 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
22 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
23 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
24 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
25 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
26 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
27 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
28 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
29 cherry red spot of the macula 59 32 occasional (7.5%) Occasional (29-5%) HP:0010729
30 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
31 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
32 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
33 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
34 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
35 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
36 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
37 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
38 abnormality of ganglioside metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004345
39 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
40 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
41 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
42 abnormal diaphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000940
43 generalized dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0007325
44 abnormality of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000951
45 rough bone trabeculation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100670
46 abnormality of the scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000045
47 abnormality of movement 59 Frequent (79-30%)
48 abnormality of the retinal vasculature 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Gangliosidosis Gm1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 ARSA CTSA GLA GLB1 HEXA NEU1
2 homeostasis/metabolism MP:0005376 9.97 ARSA CTSA GALNS GLA GLB1 HEXA
3 growth/size/body region MP:0005378 9.95 CTSA GLA GLB1 HEXA KIF11 NEU1
4 immune system MP:0005387 9.8 ARSA CTSA GLA GLB1 NEU1 PSAP
5 liver/biliary system MP:0005370 9.73 CTSA GLA GLB1 HEXA NEU1 PSAP
6 mortality/aging MP:0010768 9.7 CTSA GLA GLB1 HEXA KIF11 NEU1
7 renal/urinary system MP:0005367 9.5 CTSA GALNS GLA GLB1 HEXA NEU1
8 vision/eye MP:0005391 9.02 GALNS GLA HEXA NEU1 PSAP

Drugs & Therapeutics for Gangliosidosis Gm1

Drugs for Gangliosidosis Gm1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Experimental, Investigational Phase 4 19130-96-2 1374
3 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
4 Glycoside Hydrolase Inhibitors Phase 4
5 Antiviral Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Anti-HIV Agents Phase 4
8 Anti-Retroviral Agents Phase 4
9 Cardiac Glycosides Phase 4
10
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
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 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
19 Methylprednisolone acetate Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3,Not Applicable
21 Immunologic Factors Phase 2, Phase 3,Not Applicable
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
23 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
24 Antilymphocyte Serum Phase 2, Phase 3
25
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
26
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
27 tannic acid Approved Phase 2,Not Applicable
28
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
29
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
30
Hydroxyurea Approved Phase 2 127-07-1 3657
31
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
32 Calcineurin Inhibitors Phase 2,Not Applicable
33 Antifungal Agents Phase 2,Not Applicable
34 Dermatologic Agents Phase 2,Not Applicable
35 Antimetabolites, Antineoplastic Phase 2,Not Applicable
36 Cyclosporins Phase 2,Not Applicable
37 Antimetabolites Phase 2,Not Applicable
38 Nucleic Acid Synthesis Inhibitors Phase 2
39
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
40 Antitubercular Agents Not Applicable
41 Anti-Bacterial Agents Not Applicable
42 Antibiotics, Antitubercular Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 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
6 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
7 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
8 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Gangliosidosis Gm1

Cochrane evidence based reviews: gangliosidosis, gm1

Genetic Tests for Gangliosidosis Gm1

Genetic tests related to Gangliosidosis Gm1:

# Genetic test Affiliating Genes
1 Gm1 Gangliosidosis 29

Anatomical Context for Gangliosidosis Gm1

MalaCards organs/tissues related to Gangliosidosis Gm1:

41
Brain, Spinal Cord, Liver, Bone, Skin, Heart, Eye

Publications for Gangliosidosis Gm1

Articles related to Gangliosidosis Gm1:

(show top 50) (show all 341)
# Title Authors Year
1
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
2
Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle. ( 29503341 )
2018
3
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. ( 30369755 )
2018
4
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. ( 30528226 )
2018
5
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. ( 29160035 )
2018
6
Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis. ( 29720806 )
2018
7
Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis. ( 29987186 )
2018
8
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. ( 30187681 )
2018
9
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. ( 30267299 )
2018
10
Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis. ( 30271472 )
2018
11
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. ( 30555092 )
2018
12
(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
13
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model. ( 28236574 )
2017
14
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
15
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. ( 28577204 )
2017
16
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols. ( 28600215 )
2017
17
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. ( 26765271 )
2016
18
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
19
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
20
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel I^-galactosidase:RTB lectin fusion. ( 26766614 )
2016
21
Peripheral blood findings in GM1 gangliosidosis. ( 28092877 )
2016
22
Mongolian Spots in GM1 Gangliosidosis. ( 28064276 )
2016
23
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. ( 26646981 )
2016
24
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
25
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. ( 27043200 )
2016
26
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis. ( 25694553 )
2015
27
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. ( 26234889 )
2015
28
Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients. ( 25851126 )
2015
29
White matter changes in GM1 gangliosidosis. ( 25691190 )
2015
30
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. ( 25443580 )
2015
31
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. ( 25964428 )
2015
32
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. ( 26337817 )
2015
33
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation. ( 25925601 )
2015
34
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. ( 26108645 )
2015
35
Gene therapy for GM1 gangliosidosis: challenges of translational medicine. ( 26046074 )
2015
36
Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant: A harbinger of GM1 gangliosidosis. ( 25332452 )
2014
37
GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization. ( 24581871 )
2014
38
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. ( 24777551 )
2014
39
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. ( 23337983 )
2013
40
Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G&amp;gt;C mutation of the feline GLB1 gene: case study. ( 23123943 )
2013
41
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. ( 23831247 )
2013
42
Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis. ( 24024947 )
2013
43
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency. ( 23819787 )
2013
44
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. ( 23046582 )
2013
45
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. ( 23290321 )
2013
46
Crystal structure of human I^-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. ( 22128166 )
2012
47
Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ( 22536126 )
2012
48
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. ( 22083095 )
2012
49
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. ( 22675082 )
2012
50
Four novel mutations in the I^-galactosidase gene identified in infantile type of GM1 gangliosidosis. ( 22234367 )
2012

Variations for Gangliosidosis Gm1

ClinVar genetic disease variations for Gangliosidosis Gm1:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh37 Chromosome 3, 33114136: 33114136
2 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh38 Chromosome 3, 33072644: 33072644
3 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh37 Chromosome 3, 33099713: 33099713
4 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh38 Chromosome 3, 33058221: 33058221
5 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
6 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
7 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
8 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
9 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
10 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
11 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh37 Chromosome 3, 33063050: 33063050
12 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh38 Chromosome 3, 33021558: 33021558
13 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh37 Chromosome 3, 33058254: 33058254
14 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh38 Chromosome 3, 33016762: 33016762
15 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh37 Chromosome 3, 33055688: 33055688
16 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh38 Chromosome 3, 33014196: 33014196
17 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh37 Chromosome 3, 33038747: 33038747
18 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh38 Chromosome 3, 32997255: 32997255
19 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh37 Chromosome 3, 33138549: 33138549
20 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh38 Chromosome 3, 33097057: 33097057
21 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh37 Chromosome 3, 33138544: 33138544
22 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh38 Chromosome 3, 33097052: 33097052
23 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh37 Chromosome 3, 33107060: 33107060
24 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh38 Chromosome 3, 33065568: 33065568
25 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh37 Chromosome 3, 33094973: 33094973
26 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh38 Chromosome 3, 33053481: 33053481
27 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh37 Chromosome 3, 33110383: 33110383
28 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh38 Chromosome 3, 33068891: 33068891
29 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
30 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh38 Chromosome 3, 32997311: 32997311
31 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180869784 GRCh38 Chromosome 3, 33018510: 33018510
32 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180869784 GRCh37 Chromosome 3, 33060002: 33060002
33 GLB1 NM_000404.3(GLB1): c.1561C> T (p.Arg521Cys) single nucleotide variant Benign rs4302331 GRCh38 Chromosome 3, 33014229: 33014229
34 GLB1 NM_000404.3(GLB1): c.1561C> T (p.Arg521Cys) single nucleotide variant Benign rs4302331 GRCh37 Chromosome 3, 33055721: 33055721
35 GLB1 NM_000404.3(GLB1): c.808T> G (p.Tyr270Asp) single nucleotide variant Pathogenic/Likely pathogenic rs376663785 GRCh37 Chromosome 3, 33093481: 33093481
36 GLB1 NM_000404.3(GLB1): c.808T> G (p.Tyr270Asp) single nucleotide variant Pathogenic/Likely pathogenic rs376663785 GRCh38 Chromosome 3, 33051989: 33051989
37 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh38 Chromosome 3, 32996691: 32996691
38 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh37 Chromosome 3, 33038183: 33038183
39 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh38 Chromosome 3, 32996726: 32996726
40 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh37 Chromosome 3, 33038218: 33038218
41 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh38 Chromosome 3, 32996863: 32996863
42 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh37 Chromosome 3, 33038355: 33038355
43 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh38 Chromosome 3, 32997348: 32997349
44 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh37 Chromosome 3, 33038840: 33038841
45 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh38 Chromosome 3, 33058277: 33058277
46 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh37 Chromosome 3, 33099769: 33099769
47 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh38 Chromosome 3, 33068840: 33068840
48 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh37 Chromosome 3, 33110332: 33110332
49 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh38 Chromosome 3, 33097082: 33097082
50 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh37 Chromosome 3, 33138574: 33138574

Expression for Gangliosidosis Gm1

Search GEO for disease gene expression data for Gangliosidosis Gm1.

Pathways for Gangliosidosis Gm1

Pathways related to Gangliosidosis Gm1 according to KEGG:

37
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Glycosaminoglycan degradation hsa00531
3 Sphingolipid metabolism hsa00600
4 Glycosphingolipid biosynthesis - ganglio series hsa00604
5 Lysosome hsa04142

Pathways related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ARSA CTSA GALNS GLA GLB1 HEXA
2
Show member pathways
13.52 ARSA CTSA GALNS GLA GLB1 KIF11
3
Show member pathways
11.9 ARSA CTSA GLA GLB1 HEXA NEU1
4
Show member pathways
11.87 CTSA GLB1 NEU1
5 11.32 ARSA CTSA GALNS GLA GLB1 HEXA
6
Show member pathways
11.02 GLA HEXA
7
Show member pathways
10.88 GLB1 HEXA
8
Show member pathways
10.73 GALNS GLB1 HEXA
9 10.59 GLB1 HEXA NEU1

GO Terms for Gangliosidosis Gm1

Cellular components related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 ARSA CTSA GALNS GLA GLB1 NEU1
2 extracellular exosome GO:0070062 9.86 ARSA CTSA GALNS GLA GLB1 HEXA
3 intracellular membrane-bounded organelle GO:0043231 9.67 CTSA GLB1 NEU1 PSAP
4 lysosomal membrane GO:0005765 9.58 CTSA NEU1 PSAP
5 lysosome GO:0005764 9.56 ARSA CTSA GALNS GLA GLB1 HEXA
6 azurophil granule lumen GO:0035578 9.55 ARSA CTSA GALNS GLA GLB1
7 lysosomal lumen GO:0043202 9.23 ARSA CTSA GALNS GLA GLB1 HEXA

Biological processes related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.62 GLA GLB1 HEXA NEU1
2 metabolic process GO:0008152 9.56 GLA GLB1 HEXA NEU1
3 neutrophil degranulation GO:0043312 9.5 ARSA CTSA GALNS GLA GLB1 NEU1
4 keratan sulfate catabolic process GO:0042340 9.33 GALNS GLB1 HEXA
5 glycosphingolipid metabolic process GO:0006687 9.17 ARSA CTSA GLA GLB1 HEXA NEU1

Molecular functions related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ARSA CTSA GALNS GLA GLB1 HEXA
2 enzyme activator activity GO:0008047 9.43 CTSA PSAP
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 GLA GLB1
4 sulfuric ester hydrolase activity GO:0008484 9.37 ARSA GALNS
5 beta-galactosidase activity GO:0004565 9.32 GLB1 PSAP
6 galactoside binding GO:0016936 9.26 GLA GLB1
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLA GLB1 HEXA NEU1
8 exo-alpha-sialidase activity GO:0004308 8.8 CTSA GLB1 NEU1

Sources for Gangliosidosis Gm1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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