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 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:



Summaries for Gangliosidosis Gm1

NIH Rare Diseases : 50 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 gm1-gangliosidosis, type ii and krabbe disease, and has symptoms including short stature, scoliosis and macroglossia. 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 23)
id Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type ii 12.0
2 krabbe disease 11.4
3 galactosialidosis 11.4
4 gm1-gangliosidosis, type iii 11.2
5 gm1-gangliosidosis, type i 11.1
6 petrositis 10.0 GLB1 HEXA
7 severe combined immunodeficiency due to ada deficiency 9.9 GLB1 NEU1
8 hyperglobulinemic purpura 9.9 GLB1 HEXA
9 ovarian clear cell malignant adenofibroma 9.7 GALNS HEXA
10 spina bifida occulta 9.7 GLB1 PSAP
11 muscle disorders 9.6 GALNS GLB1 NEU1
12 microcephaly 16, primary, autosomal recessive 9.6 GALNS HEXA
13 hypogonadotropic hypogonadism 16 with or without anosmia 9.5 GALNS GLB1 HEXA
14 mucopolysaccharidosis ih/s 9.5 GALNS GLB1 HEXA
15 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.5 NEU1 PSAP
16 bone angioendothelial sarcoma 9.4 GLB1 NEU1 PSAP
17 hemophagocytic lymphohistiocytosis, familial, 5 9.2 GLB1 HEXA PSAP
18 dysostosis 9.2 GLB1 HEXA PSAP
19 uterine corpus cancer 9.1 GLB1 HEXA PSAP
20 tyrosinemia, type i 9.1 HEXA NEU1 PSAP
21 mitochondrial dna depletion syndrome 1 9.1 HEXA PSAP
22 malignant glioma 9.0 GALNS GLB1 HEXA NEU1
23 purpura 8.2 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 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
4 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
5 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
7 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
8 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
9 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
10 hyperreflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001347
11 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
12 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
13 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
14 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
15 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
16 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
17 broad nasal tip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000455
18 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
19 blindness 56 32 occasional (7.5%) Occasional (29-5%) HP:0000618
20 encephalitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002383
21 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
22 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
23 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
24 hyperlordosis 56 32 frequent (33%) Frequent (79-30%) HP:0003307
25 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
26 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
27 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
28 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
29 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
30 generalized hirsutism 56 32 frequent (33%) Frequent (79-30%) HP:0002230
31 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
32 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
33 gingival overgrowth 56 32 frequent (33%) Frequent (79-30%) HP:0000212
34 generalized dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0007325
35 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
36 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
37 cherry red spot of the macula 56 32 occasional (7.5%) Occasional (29-5%) HP:0010729
38 aplasia/hypoplasia of the abdominal wall musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0010318
39 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
40 abnormality of ganglioside metabolism 56 32 hallmark (90%) Very frequent (99-80%) HP:0004345
41 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
42 abnormal diaphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0000940
43 abnormality of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0000951
44 rough bone trabeculation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100670
45 abnormality of the scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000045
46 abnormality of movement 56 Frequent (79-30%)
47 abnormality of the metaphyses 56 Very frequent (99-80%)
48 abnormality of the retinal vasculature 56 Occasional (29-5%)
49 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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 PSAP GLB1 HEXA NEU1
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 40)
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 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 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 4053 460612
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

Interventional clinical trials:


id 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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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