MCID: GNG001
MIFTS: 51

Gangliosidosis Gm1 malady

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

Aliases & Classifications for Gangliosidosis Gm1

Aliases & Descriptions for Gangliosidosis Gm1:

Name: Gangliosidosis Gm1 12 52 14 69
Gm1 Gangliosidosis 12 50 24 25 56 29
Beta-Galactosidase Deficiency 12 69
Beta-Galactosidosis 50 24
Beta-Galactosidase-1 Deficiency 25
Deficiency of Beta-Galactosidase 12
Beta-Galactosidase-1 Deficiency 56
Beta Galactosidase 1 Deficiency 50
Galactosidase, Beta-1 13
Gm>1< Gangliosidosis 12
Gangliosidosis, Gm1 42
Landing Syndrome 12
Glb 1 Deficiency 50
Glb1 Deficiency 56
Landing Disease 56

Characteristics:

Orphanet epidemiological data:

56
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:



External Ids:

Disease Ontology 12 DOID:3322
ICD10 33 E75.19
MeSH 42 D016537
NCIt 47 C84739
SNOMED-CT 64 238025006 32917001
Orphanet 56 ORPHA354
UMLS via Orphanet 70 C0085131
MESH via Orphanet 43 D016537
ICD10 via Orphanet 34 E75.1
UMLS 69 C0085131

Summaries for Gangliosidosis Gm1

NIH Rare Diseases : 50 gm1 gangliosidosis is an inherited lysosomal 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 gm1-gangliosidosis, type ii and galactosialidosis, and has symptoms including ataxia, arthralgia and seizures. An important gene associated with Gangliosidosis Gm1 is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. 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 homeostasis/metabolism and liver/biliary system

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 all 26)
id Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type ii 11.9
2 galactosialidosis 11.7
3 krabbe disease 11.4
4 gm1-gangliosidosis, type i 11.2
5 gm1-gangliosidosis, type iii 11.1
6 severe combined immunodeficiency due to ada deficiency 10.0 GLB1 NEU1
7 charge syndrome 10.0 GALNS GLB1
8 chronic pyelonephritis 10.0 GLB1 HEXA
9 purpura 10.0 GLB1 HEXA
10 spina bifida occulta 9.9 GLB1 PSAP
11 posterior uveal melanoma 9.9 GALNS HEXA
12 myasthenia gravis 9.9 GALNS GLB1 NEU1
13 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 NEU1 PSAP
14 myopia 23, autosomal recessive 9.9 GALNS GLB1 HEXA
15 gaucher disease, type ii 9.8 HEXA PSAP
16 mitochondrial dna depletion syndrome 1 9.8 HEXA PSAP
17 quadriplegia 9.8 GALNS HEXA
18 malignant fibrous histiocytoma of bone 9.8 GLB1 NEU1 PSAP
19 nasopharyngeal carcinoma 2 9.8 GLB1 NEU1 PSAP
20 hypothalamic disease 9.8 HEXA PSAP
21 spondyloenchondrodysplasia with immune dysregulation 9.7 GLB1 HEXA PSAP
22 dysostosis 9.7 GLB1 HEXA PSAP
23 mononeuritis of lower limb 9.7 GLB1 HEXA PSAP
24 glioma susceptibility 4 9.7 HEXA NEU1 PSAP
25 mannosidosis 9.7 GALNS GLB1 HEXA NEU1
26 partial motor epilepsy 9.3 GALNS GLB1 HEXA NEU1 PSAP

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:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 arthralgia 56 32 Very frequent (99-80%) HP:0002829
3 seizures 56 32 Frequent (79-30%) HP:0001250
4 tremor 56 32 Frequent (79-30%) HP:0001337
5 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
6 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
7 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
8 nystagmus 56 32 Very frequent (99-80%) HP:0000639
9 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
10 spasticity 56 32 Very frequent (99-80%) HP:0001257
11 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
12 encephalitis 56 32 Very frequent (99-80%) HP:0002383
13 scoliosis 56 32 Very frequent (99-80%) HP:0002650
14 hyperlordosis 56 32 Frequent (79-30%) HP:0003307
15 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
16 macroglossia 56 32 Frequent (79-30%) HP:0000158
17 gingival overgrowth 56 32 Frequent (79-30%) HP:0000212
18 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
19 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
20 macrotia 56 32 Very frequent (99-80%) HP:0000400
21 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
22 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
23 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
24 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
25 corneal opacity 56 32 Frequent (79-30%) HP:0007957
26 optic atrophy 56 32 Occasional (29-5%) HP:0000648
27 short stature 56 32 Very frequent (99-80%) HP:0004322
28 blindness 56 32 Occasional (29-5%) HP:0000618
29 cherry red spot of the macula 56 32 Occasional (29-5%) HP:0010729
30 long philtrum 56 32 Very frequent (99-80%) HP:0000343
31 weight loss 56 32 Very frequent (99-80%) HP:0001824
32 aplasia/hypoplasia of the abdominal wall musculature 56 32 Very frequent (99-80%) HP:0010318
33 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
34 strabismus 56 32 Frequent (79-30%) HP:0000486
35 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
36 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
37 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
38 abnormality of ganglioside metabolism 56 32 Very frequent (99-80%) HP:0004345
39 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
40 broad nasal tip 56 32 Very frequent (99-80%) HP:0000455
41 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
42 abnormal diaphysis morphology 56 32 Very frequent (99-80%) HP:0000940
43 abnormality of the skin 56 32 Frequent (79-30%) HP:0000951
44 rough bone trabeculation 56 32 Very frequent (99-80%) HP:0100670
45 abnormality of the scrotum 56 32 Occasional (29-5%) HP:0000045
46 generalized dystonia 56 32 Frequent (79-30%) HP:0007325
47 abnormality of movement 56 Frequent (79-30%)
48 abnormality of the retinal vasculature 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Gangliosidosis Gm1:

44
id 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 41)
id 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
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 216503-57-0
25
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
26
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
27
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
28
Hydroxyurea Approved Phase 2 127-07-1 3657
29
Melphalan Approved Phase 2 148-82-3 4053 460612
30
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
31 tannic acid Approved, Nutraceutical Phase 2
32 Antifungal Agents Phase 2
33 Antimetabolites Phase 2
34 Antimetabolites, Antineoplastic Phase 2
35 Calcineurin Inhibitors Phase 2
36 Dermatologic Agents Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
39
Mycophenolic acid Approved 24280-93-1 446541
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular

Interventional clinical trials:


id Name Status NCT ID Phase
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
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
5 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
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

Search NIH Clinical Center for Gangliosidosis Gm1

Cochrane evidence based reviews: gangliosidosis, gm1

Genetic Tests for Gangliosidosis Gm1

Genetic tests related to Gangliosidosis Gm1:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis 29 24 GLB1

Anatomical Context for Gangliosidosis Gm1

MalaCards organs/tissues related to Gangliosidosis Gm1:

39
Brain, Spinal Cord, Bone, Heart, Skin, Eye

Publications for Gangliosidosis Gm1

Articles related to Gangliosidosis Gm1:

id 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

Expression for Gangliosidosis Gm1

Search GEO for disease gene expression data for Gangliosidosis Gm1.

Pathways for Gangliosidosis Gm1

GO Terms for Gangliosidosis Gm1

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

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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