MCID: GNG001
MIFTS: 52

Gangliosidosis Gm1

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

Aliases & Classifications for Gangliosidosis Gm1

MalaCards integrated aliases for Gangliosidosis Gm1:

Name: Gangliosidosis Gm1 12 51 14 69
Gm1 Gangliosidosis 12 49 24 55 36 28
Beta-Galactosidase Deficiency 12 69
Beta-Galactosidase-1 Deficiency 24
Deficiency of Beta-Galactosidase 12
Beta-Galactosidase-1 Deficiency 55
Beta Galactosidase 1 Deficiency 49
Galactosidase, Beta-1 13
Gm>1< Gangliosidosis 12
Beta-Galactosidosis 49
Gangliosidosis, Gm1 41
Landing Syndrome 12
Glb 1 Deficiency 49
Glb1 Deficiency 55
Landing Disease 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 11/17/2015

MalaCards based summary : Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to galactosialidosis and krabbe disease, and has symptoms including inguinal hernia, abnormality of the scrotum and macroglossia. 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 spinal cord, brain and bone, and related phenotypes are homeostasis/metabolism and liver/biliary system

Genetics Home Reference : 24 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:

55 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 abnormality of the scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000045
3 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
4 gingival overgrowth 55 31 frequent (33%) Frequent (79-30%) HP:0000212
5 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
7 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
8 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
9 broad nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000455
10 depressed nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000457
11 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
12 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
13 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
14 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
15 abnormal diaphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0000940
16 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
17 abnormality of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0000951
18 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
19 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
20 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
21 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
22 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
23 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
24 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
25 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
26 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
27 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
28 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
29 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
30 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
31 encephalitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002383
32 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
33 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
34 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
35 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
36 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
37 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
38 abnormality of ganglioside metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0004345
39 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
40 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
41 generalized dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0007325
42 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
43 aplasia/hypoplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0010318
44 cherry red spot of the macula 55 31 occasional (7.5%) Occasional (29-5%) HP:0010729
45 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
46 rough bone trabeculation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100670
47 abnormality of the retinal vasculature 55 Occasional (29-5%)
48 abnormality of movement 55 Frequent (79-30%)

MGI Mouse Phenotypes related to Gangliosidosis Gm1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.72 GLB1 HEXA NEU1 PSAP GALNS
2 liver/biliary system MP:0005370 9.56 GLB1 HEXA NEU1 PSAP
3 renal/urinary system MP:0005367 9.55 HEXA NEU1 PSAP GALNS GLB1
4 skeleton MP:0005390 9.35 HEXA NEU1 PSAP GALNS GLB1
5 vision/eye MP:0005391 8.92 HEXA NEU1 PSAP GALNS

Drugs & Therapeutics for Gangliosidosis Gm1

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

(show all 41)
# 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
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
15 Antilymphocyte Serum Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Methylprednisolone acetate Phase 2, Phase 3
19 Methylprednisolone Hemisuccinate Phase 2, Phase 3
20 Prednisolone acetate Phase 2, Phase 3
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
25
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Melphalan Approved Phase 2 148-82-3 460612 4053
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29 tannic acid Approved, Nutraceutical Phase 2
30 Antifungal Agents Phase 2
31 Antimetabolites Phase 2
32 Antimetabolites, Antineoplastic Phase 2
33 Calcineurin Inhibitors Phase 2
34 Cyclosporins Phase 2
35 Dermatologic Agents Phase 2
36 Nucleic Acid Synthesis Inhibitors Phase 2
37
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
38
Mycophenolic acid Approved 24280-93-1 446541
39 Anti-Bacterial Agents
40 Antibiotics, Antitubercular
41 Antitubercular Agents

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 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 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
9 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 28

Anatomical Context for Gangliosidosis Gm1

MalaCards organs/tissues related to Gangliosidosis Gm1:

38
Spinal Cord, Brain, Bone, Heart, Skin, Eye

Publications for Gangliosidosis Gm1

Articles related to Gangliosidosis Gm1:

# Title Authors Year
1
Gangliosidosis (GM1). A re-evaluation of the vertebral deformity. ( 4134673 )
1974
2
Ultrastructure of heart muscle in generalized gangliosidosis GM1. ( 5580605 )
1971
3
Generalized gangliosidosis--GM1 (Langing disease). II. Morphological study. ( 4191160 )
1970

Variations for Gangliosidosis Gm1

ClinVar genetic disease variations for Gangliosidosis Gm1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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