MCID: GM1007
MIFTS: 58

Gm1 Gangliosidosis

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

Aliases & Classifications for Gm1 Gangliosidosis

MalaCards integrated aliases for Gm1 Gangliosidosis:

Name: Gm1 Gangliosidosis 12 54 26 60 38 30 6 15
Gangliosidosis Gm1 12 56
Beta-Galactosidase-1 Deficiency 26
Deficiency of Beta-Galactosidase 12
Beta-Galactosidase-1 Deficiency 60
Beta Galactosidase 1 Deficiency 54
Beta-Galactosidase Deficiency 12
Galactosidase, Beta-1 13
Beta-Galactosidosis 54
Gangliosidosis, Gm1 45
Glb 1 Deficiency 54
Glb1 Deficiency 60
Landing Disease 60

Characteristics:

Orphanet epidemiological data:

60
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 Gm1 Gangliosidosis

NIH Rare Diseases : 54 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 : Gm1 Gangliosidosis, also known as gangliosidosis gm1, is related to krabbe disease and morquio syndrome. An important gene associated with Gm1 Gangliosidosis 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 bone, and related phenotypes are frontal bossing and abnormality of epiphysis morphology

Disease Ontology : 12 A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has material basis in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.

Genetics Home Reference : 26 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 Gm1 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 Gm1 Gangliosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 krabbe disease 32.0 ARSA CHIT1 GAA
2 morquio syndrome 30.2 GALNS GLB1
3 galactosialidosis 30.2 CTSA GLB1 NEU1
4 glycoproteinosis 30.2 CTSA GAA GLB1 NEU1
5 neuraminidase deficiency 30.1 CTSA GLB1 NEU1
6 mucopolysaccharidosis iv 29.7 CTSA GALNS GLB1 NEU1
7 lysosomal storage disease 29.2 ARSA CTSA GAA GALNS GLB1 NEU1
8 gm1-gangliosidosis, type ii 12.5
9 gm1-gangliosidosis, type iii 12.5
10 gm1-gangliosidosis, type i 12.5
11 generalized gangliosidoses 11.4
12 gangliosidosis 11.3
13 dystonia 10.6
14 neuronal ceroid lipofuscinosis 10.3
15 myoclonus 10.3
16 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
17 mucolipidosis ii alpha/beta 10.2
18 aceruloplasminemia 10.2
19 mucolipidosis 10.2
20 3-methylglutaconic aciduria, type iii 10.1
21 insulin-like growth factor i 10.1
22 fabry disease 10.1
23 alpha-1-antitrypsin deficiency 10.1
24 lymphatic malformation 7 10.1
25 dilated cardiomyopathy 10.1
26 basal ganglia calcification 10.1
27 neurodegeneration with brain iron accumulation 10.1
28 dementia 10.1
29 epilepsy 10.1
30 myopathy 10.1
31 angiokeratoma 10.1
32 fetal edema 10.1
33 hydrops fetalis 10.1
34 cerebral atrophy 10.1
35 rhombencephalosynapsis 10.1
36 mucopolysaccharidosis, type vii 10.1 GALNS GLB1
37 mannosidosis, alpha b, lysosomal 10.1 CTSA GAA
38 adrenoleukodystrophy 10.0
39 hurler syndrome 10.0
40 mucolipidoses 10.0
41 cholera 10.0
42 adrenomyeloneuropathy 10.0
43 myoclonus epilepsy 10.0
44 fucosidosis 10.0 CTSA GAA
45 mannosidosis, beta a, lysosomal 10.0 CTSA GAA
46 mucolipidosis iv 10.0 CTSA GALNS GLB1
47 aspartylglucosaminuria 9.9 CTSA GAA
48 inclusion-cell disease 9.8 ARSA CTSA GLB1
49 sphingolipidosis 9.7 ARSA CTSA GLB1
50 scheie syndrome 9.7 CTSA GAA GALNS GLB1

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



Diseases related to Gm1 Gangliosidosis

Symptoms & Phenotypes for Gm1 Gangliosidosis

Human phenotypes related to Gm1 Gangliosidosis:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
3 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
6 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
7 encephalitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002383
8 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
9 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
10 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
11 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
12 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
14 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
15 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
16 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
17 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
18 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
19 aplasia/hypoplasia of the abdominal wall musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0010318
20 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
21 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
22 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
23 abnormal diaphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000940
24 rough bone trabeculation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100670
25 ganglioside accumulation 33 hallmark (90%) HP:0004345
26 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
27 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
28 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
29 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
30 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
31 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
32 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
33 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
34 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
35 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
36 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
37 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
38 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
39 generalized dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0007325
40 abnormality of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0000951
41 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
42 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
43 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
44 cherry red spot of the macula 60 33 occasional (7.5%) Occasional (29-5%) HP:0010729
45 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
46 abnormality of the scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000045
47 abnormality of movement 60 Frequent (79-30%)
48 abnormality of ganglioside metabolism 60 Very frequent (99-80%)
49 abnormality of the retinal vasculature 60 Occasional (29-5%)

GenomeRNAi Phenotypes related to Gm1 Gangliosidosis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.17 CHIT1 CTSA GAA KIF11 NEU1
2 Decreased cell number GR00303-A 9.17 CHIT1 KIF11

Drugs & Therapeutics for Gm1 Gangliosidosis

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

(show all 49)
# 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 Cardiac Glycosides Phase 4
5 Glycoside Hydrolase Inhibitors Phase 4
6 Anti-Retroviral Agents Phase 4
7 Anti-HIV Agents Phase 4
8 Hypoglycemic Agents Phase 4
9 Antiviral Agents Phase 4
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
14
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
18 Antilymphocyte Serum Phase 2, Phase 3
19 Methylprednisolone Acetate Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3,Not Applicable
21 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
22 Alkylating Agents Phase 2, Phase 3,Not Applicable
23 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
24 Prednisolone acetate Phase 2, Phase 3
25
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
26
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
27
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
28
tannic acid Approved Phase 2,Not Applicable 1401-55-4
29
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
30
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
31
Hydroxyurea Approved Phase 2 127-07-1 3657
32 Nucleic Acid Synthesis Inhibitors Phase 2
33 Antineoplastic Agents, Immunological Phase 2,Not Applicable
34 Calcineurin Inhibitors Phase 2,Not Applicable
35 Cyclosporins Phase 2,Not Applicable
36 Antimetabolites Phase 2,Not Applicable
37 Dermatologic Agents Phase 2,Not Applicable
38 Antimetabolites, Antineoplastic Phase 2,Not Applicable
39 Antifungal Agents Phase 2,Not Applicable
40
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
41 Antibiotics, Antitubercular Not Applicable
42 Anti-Bacterial Agents Not Applicable
43 Antitubercular Agents Not Applicable
44 Interferon Inducers
45 polysaccharide-K
46 Adjuvants, Immunologic
47 Protective Agents
48 Radiation-Protective Agents
49 interferons

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 Gm1 Gangliosidosis

Cochrane evidence based reviews: gangliosidosis, gm1

Genetic Tests for Gm1 Gangliosidosis

Genetic tests related to Gm1 Gangliosidosis:

# Genetic test Affiliating Genes
1 Gm1 Gangliosidosis 30

Anatomical Context for Gm1 Gangliosidosis

MalaCards organs/tissues related to Gm1 Gangliosidosis:

42
Brain, Spinal Cord, Bone, Skin, Liver, Bone Marrow, Heart

Publications for Gm1 Gangliosidosis

Articles related to Gm1 Gangliosidosis:

(show top 50) (show all 340)
# Title Authors Year
1
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. ( 30528226 )
2019
2
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
3
Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle. ( 29503341 )
2018
4
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. ( 29160035 )
2018
5
Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis. ( 29720806 )
2018
6
Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis. ( 29987186 )
2018
7
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. ( 30187681 )
2018
8
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. ( 30267299 )
2018
9
Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis. ( 30271472 )
2018
10
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. ( 30369755 )
2018
11
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. ( 30555092 )
2018
12
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing. ( 30581635 )
2018
13
(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
14
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model. ( 28236574 )
2017
15
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
16
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. ( 28577204 )
2017
17
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols. ( 28600215 )
2017
18
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. ( 26765271 )
2016
19
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
20
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
21
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel I^-galactosidase:RTB lectin fusion. ( 26766614 )
2016
22
Peripheral blood findings in GM1 gangliosidosis. ( 28092877 )
2016
23
Mongolian Spots in GM1 Gangliosidosis. ( 28064276 )
2016
24
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. ( 26646981 )
2016
25
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
26
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. ( 27043200 )
2016
27
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis. ( 25694553 )
2015
28
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. ( 26234889 )
2015
29
Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients. ( 25851126 )
2015
30
White matter changes in GM1 gangliosidosis. ( 25691190 )
2015
31
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. ( 25443580 )
2015
32
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. ( 25964428 )
2015
33
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. ( 26337817 )
2015
34
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation. ( 25925601 )
2015
35
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. ( 26108645 )
2015
36
Gene therapy for GM1 gangliosidosis: challenges of translational medicine. ( 26046074 )
2015
37
Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation? ( 30838236 )
2015
38
Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant: A harbinger of GM1 gangliosidosis. ( 25332452 )
2014
39
GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization. ( 24581871 )
2014
40
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. ( 24777551 )
2014
41
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. ( 23337983 )
2013
42
Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. ( 23123943 )
2013
43
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. ( 23831247 )
2013
44
Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis. ( 24024947 )
2013
45
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency. ( 23819787 )
2013
46
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. ( 23046582 )
2013
47
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. ( 23290321 )
2013
48
Crystal structure of human I^-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. ( 22128166 )
2012
49
Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ( 22536126 )
2012
50
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. ( 22083095 )
2012

Variations for Gm1 Gangliosidosis

ClinVar genetic disease variations for Gm1 Gangliosidosis:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
2 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh38 Chromosome 3, 32997311: 32997311
3 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180869784 GRCh38 Chromosome 3, 33018510: 33018510
4 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180869784 GRCh37 Chromosome 3, 33060002: 33060002
5 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh37 Chromosome 3, 33114136: 33114136
6 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh38 Chromosome 3, 33072644: 33072644
7 GLB1 NM_001317040.1(GLB1): c.745C> T (p.Arg249Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh37 Chromosome 3, 33099713: 33099713
8 GLB1 NM_001317040.1(GLB1): c.745C> T (p.Arg249Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh38 Chromosome 3, 33058221: 33058221
9 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
10 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
11 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
12 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
13 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
14 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
15 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh37 Chromosome 3, 33063050: 33063050
16 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh38 Chromosome 3, 33021558: 33021558
17 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh37 Chromosome 3, 33058254: 33058254
18 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh38 Chromosome 3, 33016762: 33016762
19 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh37 Chromosome 3, 33055688: 33055688
20 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh38 Chromosome 3, 33014196: 33014196
21 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh37 Chromosome 3, 33038747: 33038747
22 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh38 Chromosome 3, 32997255: 32997255
23 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh37 Chromosome 3, 33138549: 33138549
24 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh38 Chromosome 3, 33097057: 33097057
25 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh37 Chromosome 3, 33138544: 33138544
26 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh38 Chromosome 3, 33097052: 33097052
27 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh37 Chromosome 3, 33107060: 33107060
28 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh38 Chromosome 3, 33065568: 33065568
29 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh37 Chromosome 3, 33094973: 33094973
30 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh38 Chromosome 3, 33053481: 33053481
31 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh37 Chromosome 3, 33110383: 33110383
32 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh38 Chromosome 3, 33068891: 33068891
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 Gm1 Gangliosidosis

Search GEO for disease gene expression data for Gm1 Gangliosidosis.

Pathways for Gm1 Gangliosidosis

Pathways related to Gm1 Gangliosidosis according to KEGG:

38
# 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

GO Terms for Gm1 Gangliosidosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 ARSA CTSA GAA GALNS GLB1 NEU1
2 extracellular region GO:0005576 9.8 ARSA CHIT1 CTSA ELN GALNS GLB1
3 lysosomal membrane GO:0005765 9.54 CTSA GAA NEU1
4 lysosome GO:0005764 9.5 ARSA CHIT1 CTSA GAA GALNS GLB1
5 azurophil granule lumen GO:0035578 9.46 ARSA CTSA GALNS GLB1
6 specific granule lumen GO:0035580 9.4 CHIT1 NEU1
7 lysosomal lumen GO:0043202 9.1 ARSA CTSA GAA GALNS GLB1 NEU1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.56 CHIT1 GAA GLB1 NEU1
2 metabolic process GO:0008152 9.46 CHIT1 GAA GLB1 NEU1
3 keratan sulfate catabolic process GO:0042340 9.32 GALNS GLB1
4 glycosphingolipid metabolic process GO:0006687 9.26 ARSA CTSA GLB1 NEU1
5 neutrophil degranulation GO:0043312 9.17 ARSA CHIT1 CTSA GAA GALNS GLB1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 ARSA CHIT1 CTSA GAA GALNS GLB1
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 CHIT1 GAA GLB1
3 sulfuric ester hydrolase activity GO:0008484 9.32 ARSA GALNS
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 CHIT1 GAA GLB1 NEU1
5 exo-alpha-sialidase activity GO:0004308 8.62 CTSA NEU1

Sources for Gm1 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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