MCID: GNG001
MIFTS: 42

Gangliosidosis Gm1 malady

Summaries for Gangliosidosis Gm1

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Gm1 gangliosidosis is an inherited lysosomal storage 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. the three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). 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. this condition is caused by mutations in the glb1 gene and is inherited in an autosomal recessive fashion. last updated: 4/3/2012

MalaCards: Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to krabbe disease and mucolipidosis. An important gene associated with Gangliosidosis Gm1 is GLB1 (galactosidase, beta 1), and among its related pathways are Galactose metabolism and Ganglio Sphingolipid Metabolism. The compounds lactosylceramide and 1-deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Genetics Home Reference:21 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.

Wikipedia:64 The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the... more...

Description from OMIM:47 230650,230600,230500

Aliases & Classifications for Gangliosidosis Gm1

Sources:
8Disease Ontology, 45Novoseek, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt
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Aliases & Descriptions:

gangliosidosis gm1 8 45 61
gm1 gangliosidosis 8 43 20 22 21
beta-galactosidase deficiency 8 61
beta-galactosidase-1 deficiency 21
deficiency of beta-galactosidase 8
beta galactosidase 1 deficiency 43
gm>1< gangliosidosis 8
beta-galactosidosis 43
glb 1 deficiency 43
landing syndrome 8


External Ids:

Disease Ontology8 DOID:3322
MeSH35 D016537
SNOMED-CT57 238025006, 32917001
NCIt40 C84739

Related Diseases for Gangliosidosis Gm1

Sources:
17GeneCards, 18GeneDecks
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Diseases in the gm1 gangliosidosis type 3 family:

gangliosidosis gm1 gangliosidosis
gangliosidosis gm2 gm1 gangliosidosis type 1
gm1 gangliosidosis type 2 gm2 gangliosidosis, 0 variant
gm2-gangliosidosis, b, b1, ab variant gm2-gangliosidosis, ab variant

Diseases related to Gangliosidosis Gm1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease30.6GLB1, ARSA, PSAP
2mucolipidosis30.5PSAP, NEU1, GLB1
3fabry disease30.3GLA, ARSA, PSAP
4gm1 gangliosidosis type 210.7
5mongolian spot10.5
6gm1 gangliosidosis type 310.5
7galactosialidosis10.4
8b cell deficiency10.3
9angiokeratoma10.2
10sialidosis type i10.2
11hydrops fetalis10.2
12rhombencephalosynapsis10.2
13cerebral atrophy10.2
14t cell deficiency10.2
15gm1 gangliosidosis type 110.2
16morquio syndrome b10.2
17morquio syndrome c10.2
18myoclonus epilepsy10.2
19ataxia10.2
20mucolipidoses10.2
21myoclonus10.2
22cerebral lipidosis10.0ARSA
23leukodystrophy10.0PSAP
24gaucher's disease10.0PSAP
25fucosidosis10.0HEXA
26niemann–pick disease10.0HEXA
27dysostosis10.0ARSA
28nephrosis10.0NEU1
29sandhoff disease10.0HEXA, ARSA
30cystic fibrosis10.0GLB1, HEXA
31fibrosarcoma10.0GLB1
32sphingolipidosis10.0ARSA, PSAP
33mucolipidosis ii10.0NEU1, PSAP
34iga glomerulonephritis10.0GLA, NEU1
35tay-sachs disease10.0NEU1, PSAP, HEXA
36metachromatic leukodystrophy10.0HEXA, PSAP, ARSA, GLA
37mucopolysaccharidosis iv10.0GALNS, NEU1, GLB1
38metabolic syndrome x10.0GLA, NEU1, ARSA, HEXA
39mucopolysaccharidosis10.0GLB1, ARSA, GALNS, HEXA
40gangliosidosis10.0HEXA, PSAP, GALNS, GLB1, NEU1
41lysosomal storage disease9.9HEXA, PSAP, GALNS, ARSA, NEU1, GLB1

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



Diseases related to gangliosidosis gm1

Clinical Features for Gangliosidosis Gm1

Sources:
47OMIM
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Clinical features from OMIM:

230650,230600,230500

Drugs & Therapeutics for Gangliosidosis Gm1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Gangliosidosis Gm1

Drug clinical trials:

Search ClinicalTrials for Gangliosidosis Gm1

Search NIH Clinical Center for Gangliosidosis Gm1

Search CenterWatch for Gangliosidosis Gm1

Genetic Tests for Gangliosidosis Gm1

Sources:
20GeneTests, 22GTR
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Genetic tests related to Gangliosidosis Gm1:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis20 22

Anatomical Context for Gangliosidosis Gm1

Sources:
33MalaCards
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MalaCards organs/tissues related to Gangliosidosis Gm1:

33
Brain, Spinal cord

Animal Models for Gangliosidosis Gm1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Gangliosidosis Gm1

Genetic Variations for Gangliosidosis Gm1

Expression for genes affiliated with Gangliosidosis Gm1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gangliosidosis Gm1

Search GEO for disease gene expression data for Gangliosidosis Gm1.

Pathways for genes affiliated with Gangliosidosis Gm1

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54Reactome
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Compounds for genes affiliated with Gangliosidosis Gm1

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1lactosylceramide459.9GLA, PSAP
21-deoxynojirimycin45 60 1111.9GLA, NEU1
3galactosylceramide459.9ARSA, PSAP
4n-acetyllactosamine45 2410.9GLA, NEU1
5glutaraldehyde459.8NEU1, GLA
6cerebroside459.7GLA, ARSA, HEXA
7glucosylceramide45 2410.6GLA, GLB1, PSAP
8n-acetylgalactosamine 6-sulfate459.6GALNS, ARSA
9glycerol45 11 2411.6GLA, GLB1, NEU1
10glycosphingolipid459.6PSAP, ARSA, GLA
11keratan sulfate459.6GLB1, GALNS
12n-acetylglucosamine459.6HEXA, ARSA, NEU1
13ceramide459.5GLA, ARSA, PSAP
14valine459.5PSAP, ARSA, GLA
15lactose45 1110.5GLA, GLB1
16glucuronic acid459.5HEXA, GALNS
17chondroitin45 2410.4GLB1, GALNS
18cellulose acetate459.4NEU1, GALNS
19mannose459.3GLA, NEU1, ARSA, HEXA
20hydrogen45 2410.2GLA, ARSA, PSAP
21chondroitin sulfate45 2410.2GLB1, NEU1, GALNS
22sulfatide459.2PSAP, ARSA, NEU1, GLB1
23heparan sulfate45 2410.2HEXA, GALNS, ARSA
24glycolipid459.1HEXA, PSAP, NEU1, GLA
25glucosamine45 11 2411.1GALNS, NEU1
26sulfate45 2410.1PSAP, GALNS, ARSA
27polysaccharide458.9GALNS, ARSA, NEU1
28mannose 6-phosphate45 249.8HEXA, PSAP, ARSA, NEU1, GLA
29ganglioside458.4GLA, GLB1, NEU1, ARSA, PSAP, HEXA
30cysteine458.3NEU1, ARSA, GALNS, PSAP
31serine457.9HEXA, PSAP, GALNS, ARSA, NEU1, GLA

GO Terms for genes affiliated with Gangliosidosis Gm1

Sources:
16Gene Ontology
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Cellular components related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3GLA, NEU1, ARSA
2lysosomal lumenGO:0432026.9GLA, HEXA, PSAP, GALNS, ARSA, NEU1

Biological processes related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:0423408.9GLB1, GALNS, HEXA
2carbohydrate metabolic processGO:0059758.9GLB1, GALNS, HEXA
3keratan sulfate metabolic processGO:0423398.8HEXA, GALNS, GLB1
4glycosaminoglycan metabolic processGO:0302038.6GLB1, GALNS, HEXA
5glycosphingolipid metabolic processGO:0066878.2GLA, GLB1, NEU1, ARSA, PSAP, HEXA
6sphingolipid metabolic processGO:0066658.2HEXA, PSAP, ARSA, NEU1, GLB1, GLA
7small molecule metabolic processGO:0442816.7HEXA, PSAP, GALNS, ARSA, NEU1, EBP

Molecular functions related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactoside bindingGO:0169369.5GLA, GLB1
2sulfuric ester hydrolase activityGO:0084849.3ARSA, GALNS

Products for genes affiliated with Gangliosidosis Gm1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gangliosidosis Gm1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet