MCID: GNG001
MIFTS: 57

Gangliosidosis Gm1

Categories: Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Genetic 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 galactosialidosis and gm1-gangliosidosis, type ii. 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 bone, and related phenotypes are inguinal hernia and abnormality of the scrotum

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

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

MGI Mouse Phenotypes related to Gangliosidosis Gm1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.72 GALNS GLB1 HEXA NEU1 PSAP
2 liver/biliary system MP:0005370 9.56 GLB1 HEXA NEU1 PSAP
3 renal/urinary system MP:0005367 9.55 GALNS GLB1 HEXA NEU1 PSAP
4 skeleton MP:0005390 9.35 GALNS GLB1 HEXA NEU1 PSAP
5 vision/eye MP:0005391 8.92 GALNS 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 Phase 4 19130-96-2 1374
3 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
4 Anti-HIV Agents Phase 4
5 Anti-Retroviral Agents Phase 4
6 Antiviral Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Hypoglycemic Agents Phase 4
10
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 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 Alkylating Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
17 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
18 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
25
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
26
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
27
Hydroxyurea Approved Phase 2 127-07-1 3657
28
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
29
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
30 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
31 Antifungal Agents Phase 2,Not Applicable
32 Antimetabolites Phase 2,Not Applicable
33 Antimetabolites, Antineoplastic Phase 2,Not Applicable
34 Calcineurin Inhibitors Phase 2,Not Applicable
35 Cyclosporins Phase 2,Not Applicable
36 Dermatologic Agents Phase 2,Not Applicable
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
39
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
40 Anti-Bacterial Agents Not Applicable
41 Antibiotics, Antitubercular Not Applicable
42 Antitubercular Agents 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
9 Biomarker for GM1/GM2 - Gangliosidoses Active, not recruiting NCT02298647

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, Bone, Liver, Heart, Skin, Eye

Publications for Gangliosidosis Gm1

Articles related to Gangliosidosis Gm1:

(show top 50) (show all 187)
# Title Authors Year
1
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
2
Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. ( 26765271 )
2016
3
Peripheral blood findings in GM1 gangliosidosis. ( 28092877 )
2016
4
Mongolian Spots in GM1 Gangliosidosis. ( 28064276 )
2016
5
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. ( 26646981 )
2016
6
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. ( 26234889 )
2015
7
White matter changes in GM1 gangliosidosis. ( 25691190 )
2015
8
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. ( 25443580 )
2015
9
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. ( 25964428 )
2015
10
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. ( 26337817 )
2015
11
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation. ( 25925601 )
2015
12
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. ( 26108645 )
2015
13
Gene therapy for GM1 gangliosidosis: challenges of translational medicine. ( 26046074 )
2015
14
Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant: A harbinger of GM1 gangliosidosis. ( 25332452 )
2014
15
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. ( 24777551 )
2014
16
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. ( 23337983 )
2013
17
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
18
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. ( 23831247 )
2013
19
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency. ( 23819787 )
2013
20
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. ( 23046582 )
2013
21
Crystal structure of human I^-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. ( 22128166 )
2012
22
Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ( 22536126 )
2012
23
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. ( 22083095 )
2012
24
Four novel mutations in the I^-galactosidase gene identified in infantile type of GM1 gangliosidosis. ( 22234367 )
2012
25
Vacuolated lymphocytes and abnormal eosinophils in GM1 gangliosidosis, type 1. ( 22053784 )
2012
26
Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis. ( 22618082 )
2012
27
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. ( 23151865 )
2012
28
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. ( 22772479 )
2012
29
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy. ( 22784478 )
2012
30
1-Deoxy-D-galactonojirimycins with dansyl capped N-substituents as I^-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines. ( 21645885 )
2011
31
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. ( 21572805 )
2011
32
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. ( 21497194 )
2011
33
Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain. ( 21508255 )
2011
34
Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. ( 22362802 )
2011
35
An autopsy case of infantile GM1 gangliosidosis with adrenal calcification. ( 21800097 )
2011
36
A fluorescent probe for GM1 gangliosidosis related I^-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol. ( 21974950 )
2011
37
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. ( 20920281 )
2010
38
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. ( 20175788 )
2010
39
Teaching neuroimages: T2 hypointense thalami in infantile GM1 gangliosidosis. ( 20308674 )
2010
40
Rapid and reliable genotyping technique for GM1 gangliosidosis in Shiba dogs by real-time polymerase chain reaction with TaqMan minor groove binder probes. ( 20224082 )
2010
41
Structural bases of GM1 gangliosidosis and Morquio B disease. ( 19644515 )
2009
42
Intracerebral cell transplantation therapy for murine GM1 gangliosidosis. ( 19118961 )
2009
43
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta- galactosidase. ( 19472408 )
2009
44
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. ( 19279282 )
2009
45
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. ( 18353697 )
2008
46
Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. ( 18392450 )
2008
47
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. ( 18184943 )
2008
48
Morphological analysis of corneal opacity in Shiba dog with GM1 gangliosidosis. ( 18840960 )
2008
49
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. ( 18524657 )
2008
50
Coincidental GM1 gangliosidosis in an infant with alpha-1-antitrypsin deficiency. ( 18664873 )
2008

Variations for Gangliosidosis Gm1

ClinVar genetic disease variations for Gangliosidosis Gm1:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
2 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
3 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
4 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
5 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
6 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
7 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Likely benign rs180869784 GRCh38 Chromosome 3, 33018510: 33018510
8 GLB1 NM_000404.3(GLB1): c.1285C> T (p.Pro429Ser) single nucleotide variant Likely benign rs180869784 GRCh37 Chromosome 3, 33060002: 33060002
9 GLB1 NM_000404.3(GLB1): c.1561C> T (p.Arg521Cys) single nucleotide variant Benign rs4302331 GRCh38 Chromosome 3, 33014229: 33014229
10 GLB1 NM_000404.3(GLB1): c.1561C> T (p.Arg521Cys) single nucleotide variant Benign rs4302331 GRCh37 Chromosome 3, 33055721: 33055721
11 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh38 Chromosome 3, 32996691: 32996691
12 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh37 Chromosome 3, 33038183: 33038183
13 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh38 Chromosome 3, 32996726: 32996726
14 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh37 Chromosome 3, 33038218: 33038218
15 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh38 Chromosome 3, 32996863: 32996863
16 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh37 Chromosome 3, 33038355: 33038355
17 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh38 Chromosome 3, 32997348: 32997349
18 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh37 Chromosome 3, 33038840: 33038841
19 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh38 Chromosome 3, 33058277: 33058277
20 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh37 Chromosome 3, 33099769: 33099769
21 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh38 Chromosome 3, 33068840: 33068840
22 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh37 Chromosome 3, 33110332: 33110332
23 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh38 Chromosome 3, 33097082: 33097082
24 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh37 Chromosome 3, 33138574: 33138574
25 GLB1 NM_000404.3(GLB1): c.*376C> G single nucleotide variant Uncertain significance rs147437116 GRCh38 Chromosome 3, 32996669: 32996669
26 GLB1 NM_000404.3(GLB1): c.*376C> G single nucleotide variant Uncertain significance rs147437116 GRCh37 Chromosome 3, 33038161: 33038161
27 GLB1 NM_000404.3(GLB1): c.*194C> A single nucleotide variant Uncertain significance rs886058340 GRCh38 Chromosome 3, 32996851: 32996851
28 GLB1 NM_000404.3(GLB1): c.*194C> A single nucleotide variant Uncertain significance rs886058340 GRCh37 Chromosome 3, 33038343: 33038343
29 GLB1 NM_000404.3(GLB1): c.*184G> A single nucleotide variant Uncertain significance rs143430374 GRCh38 Chromosome 3, 32996861: 32996861
30 GLB1 NM_000404.3(GLB1): c.*184G> A single nucleotide variant Uncertain significance rs143430374 GRCh37 Chromosome 3, 33038353: 33038353
31 GLB1 NM_000404.3(GLB1): c.1715A> G (p.Gln572Arg) single nucleotide variant Uncertain significance rs183126947 GRCh37 Chromosome 3, 33055567: 33055567
32 GLB1 NM_000404.3(GLB1): c.1715A> G (p.Gln572Arg) single nucleotide variant Uncertain significance rs183126947 GRCh38 Chromosome 3, 33014075: 33014075
33 GLB1 NM_000404.3(GLB1): c.1603C> G (p.His535Asp) single nucleotide variant Uncertain significance rs886058341 GRCh37 Chromosome 3, 33055679: 33055679
34 GLB1 NM_000404.3(GLB1): c.1603C> G (p.His535Asp) single nucleotide variant Uncertain significance rs886058341 GRCh38 Chromosome 3, 33014187: 33014187
35 GLB1 NM_000404.3(GLB1): c.1530G> A (p.Thr510=) single nucleotide variant Uncertain significance rs191203702 GRCh37 Chromosome 3, 33055752: 33055752
36 GLB1 NM_000404.3(GLB1): c.1530G> A (p.Thr510=) single nucleotide variant Uncertain significance rs191203702 GRCh38 Chromosome 3, 33014260: 33014260
37 GLB1 NM_000404.3(GLB1): c.1480-8C> G single nucleotide variant Uncertain significance rs753129246 GRCh38 Chromosome 3, 33014318: 33014318
38 GLB1 NM_000404.3(GLB1): c.1480-8C> G single nucleotide variant Uncertain significance rs753129246 GRCh37 Chromosome 3, 33055810: 33055810
39 GLB1 NM_000404.3(GLB1): c.-25C> G single nucleotide variant Uncertain significance rs368944274 GRCh38 Chromosome 3, 33097110: 33097110
40 GLB1 NM_000404.3(GLB1): c.-25C> G single nucleotide variant Uncertain significance rs368944274 GRCh37 Chromosome 3, 33138602: 33138602
41 GLB1 NM_000404.3(GLB1): c.*423A> G single nucleotide variant Uncertain significance rs79603348 GRCh38 Chromosome 3, 32996622: 32996622
42 GLB1 NM_000404.3(GLB1): c.*423A> G single nucleotide variant Uncertain significance rs79603348 GRCh37 Chromosome 3, 33038114: 33038114
43 GLB1 NM_000404.3(GLB1): c.1347+10G> A single nucleotide variant Uncertain significance rs199538100 GRCh37 Chromosome 3, 33059930: 33059930
44 GLB1 NM_000404.3(GLB1): c.1347+10G> A single nucleotide variant Uncertain significance rs199538100 GRCh38 Chromosome 3, 33018438: 33018438
45 GLB1 NM_000404.3(GLB1): c.234C> T (p.Asn78=) single nucleotide variant Uncertain significance rs368796666 GRCh38 Chromosome 3, 33072555: 33072555
46 GLB1 NM_000404.3(GLB1): c.234C> T (p.Asn78=) single nucleotide variant Uncertain significance rs368796666 GRCh37 Chromosome 3, 33114047: 33114047
47 GLB1 NM_000404.3(GLB1): c.-37C> G single nucleotide variant Conflicting interpretations of pathogenicity rs115554377 GRCh38 Chromosome 3, 33097122: 33097122
48 GLB1 NM_000404.3(GLB1): c.-37C> G single nucleotide variant Conflicting interpretations of pathogenicity rs115554377 GRCh37 Chromosome 3, 33138614: 33138614
49 GLB1 NM_000404.3(GLB1): c.-73C> T single nucleotide variant Uncertain significance rs530326876 GRCh38 Chromosome 3, 33097158: 33097158
50 GLB1 NM_000404.3(GLB1): c.-73C> T single nucleotide variant Uncertain significance rs530326876 GRCh37 Chromosome 3, 33138650: 33138650

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

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 9.67 GALNS GLB1 NEU1 PSAP
2 extracellular exosome GO:0070062 9.55 GALNS GLB1 HEXA NEU1 PSAP
3 intracellular membrane-bounded organelle GO:0043231 9.5 GLB1 NEU1 PSAP
4 lysosome GO:0005764 9.35 GALNS GLB1 HEXA NEU1 PSAP
5 azurophil granule lumen GO:0035578 9.26 GALNS GLB1
6 lysosomal lumen GO:0043202 9.02 GALNS GLB1 HEXA NEU1 PSAP

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.56 GALNS GLB1 HEXA NEU1
2 carbohydrate metabolic process GO:0005975 9.5 GLB1 HEXA NEU1
3 neutrophil degranulation GO:0043312 9.46 GALNS GLB1 NEU1 PSAP
4 keratan sulfate catabolic process GO:0042340 9.13 GALNS GLB1 HEXA
5 glycosphingolipid metabolic process GO:0006687 8.92 GLB1 HEXA NEU1 PSAP

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 GALNS GLB1 HEXA NEU1
2 exo-alpha-sialidase activity GO:0004308 9.16 GLB1 NEU1
3 beta-galactosidase activity GO:0004565 8.96 GLB1 PSAP
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 GLB1 HEXA 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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