MCID: GNG001
MIFTS: 53

Gangliosidosis Gm1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases categories

Summaries for Gangliosidosis Gm1

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 isĀ inherited in an autosomal recessive fashion. last updated: 4/3/2012

MalaCards: Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to gangliosidosis and krabbe disease. An important gene associated with Gangliosidosis Gm1 is GLB1 (galactosidase, beta 1), and among its related pathways are Galactose metabolism and Glycosaminoglycan degradation. The compounds Galactosylglycerol and D-Galactose have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are hearing/vestibular/ear and hematopoietic system.

Wikipedia:66 The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the... more...

Description from OMIM:48 230650,230600,230500

Aliases & Classifications for Gangliosidosis Gm1

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9Disease Ontology, 46Novoseek, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:



Aliases & Descriptions:

gangliosidosis gm1 9 46 63
gm1 gangliosidosis 9 44 21 23 22
beta-galactosidase deficiency 9 63
beta-galactosidase-1 deficiency 22
deficiency of beta-galactosidase 9
beta galactosidase 1 deficiency 44
gm>1< gangliosidosis 9
beta-galactosidosis 44
glb 1 deficiency 44
landing syndrome 9


External Ids:

Disease Ontology9 DOID:3322
SNOMED-CT59 32917001, 238025006
MeSH36 D016537
NCIt41 C84739

Related Diseases for Gangliosidosis Gm1

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18GeneCards, 19GeneDecks
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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 42)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis30.9HEXA, GLB1, NEU1, PSAP
2krabbe disease30.7PSAP, GLB1, ARSA
3mucolipidosis30.6ARSA, GLB1
4mucopolysaccharidosis iv30.3GLB1, NEU1
5fabry disease30.3PSAP, GLA, ARSA
6mucolipidosis ii30.3NEU1, PSAP
7mucopolysaccharidosis30.3ARSA, HEXA, GLB1
8lysosomal storage disease30.2ARSA, GLB1, PSAP, NEU1, HEXA, GLA
9gm1 gangliosidosis type 210.7
10dystonia10.6
11gm1 gangliosidosis type 310.5
12mongolian spot10.5
13galactosialidosis10.4
14beta-galactosidase-1 deficiency10.4
15cerebritis10.4
16neuronal ceroid lipofuscinosis10.4
17angiokeratoma10.2
18dementia10.2
19dilated cardiomyopathy10.2
20hepatitis10.2
21myopathy10.2
22optic atrophy10.2
23hydrops fetalis10.2
24rhombencephalosynapsis10.2
25cerebral atrophy10.2
26neuronitis10.2
27cerebellar ataxia10.2
28gm1 gangliosidosis type 110.2
29myoclonus epilepsy10.2
30ataxia10.2
31mucolipidoses10.2
32myoclonus10.2
33fucosidosis10.1HEXA
34gaucher's disease10.1PSAP
35leukodystrophy10.0PSAP
36sphingolipidosis10.0PSAP, ARSA
37sandhoff disease10.0HEXA, ARSA
38metachromatic leukodystrophy10.0ARSA, PSAP
39noonan syndrome10.0GLB1, GLA
40iga glomerulonephritis9.9GLA, NEU1
41tay-sachs disease9.9PSAP, NEU1, HEXA
42metabolic syndrome x9.9ARSA, GLA, NEU1, HEXA

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



Diseases related to gangliosidosis gm1

Symptoms for Gangliosidosis Gm1

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48OMIM
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Clinical features from OMIM:

230650,230600,230500

Drugs & Therapeutics for Gangliosidosis Gm1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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Genetic tests related to Gangliosidosis Gm1:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis21 23

Anatomical Context for Gangliosidosis Gm1

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34MalaCards
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MalaCards organs/tissues related to Gangliosidosis Gm1:

34
Brain, Spinal cord, Heart

Animal Models for Gangliosidosis Gm1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Gangliosidosis Gm1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6PSAP, HEXA, ARSA
2MP:00053978.3PSAP, ARSA, GLB1, NEU1
3MP:00053908.0GLB1, PSAP, NEU1, HEXA
4MP:00053877.9GLB1, PSAP, ARSA, NEU1, GLA
5MP:00053707.8NEU1, HEXA, GLA, PSAP, GLB1
6MP:00053677.7GLB1, PSAP, GLA, NEU1, HEXA
7MP:00036317.7GLB1, NEU1, PSAP, ARSA, HEXA
8MP:00053767.6NEU1, ARSA, GLB1, PSAP, HEXA
9MP:00053867.3ARSA, HEXA, NEU1, PSAP, GLA, GLB1

Publications for Gangliosidosis Gm1

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53PubMed
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Articles related to Gangliosidosis Gm1:

idTitleAuthorsYear
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

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Expression for genes affiliated with Gangliosidosis Gm1

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2BioGPS, 16Gene 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

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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Pathways related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I39
galactose degradation I (Leloir pathway)39
Cori Cycle39
9.5GLB1, GLA
2
Show member pathways
9.4GLB1, HEXA
3
Show member pathways
9.4GLB1, HEXA
4
Show member pathways
Ganglio Sphingolipid Metabolism39
9.4HEXA, GLB1
59.3GLA, HEXA
68.6GLB1, NEU1, HEXA
77.1HEXA, NEU1, PSAP, GLA, GLB1, ARSA
8
Show member pathways
7.1HEXA, NEU1, PSAP, GLA, GLB1, ARSA
9
Show member pathways
7.1ARSA, GLB1, GLA, PSAP, NEU1, HEXA

Compounds for genes affiliated with Gangliosidosis Gm1

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25HMDB, 46Novoseek
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Compounds related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1Galactosylglycerol259.7GLB1, GLA
2D-Galactose259.5GLB1, GLA
3galactosylceramide469.4PSAP, ARSA
4glycosphingolipid469.4GLA, ARSA, PSAP
5cerebroside469.3ARSA, GLA, HEXA
6glucosylceramide46 2510.2PSAP, GLB1, GLA
7Ganglioside GA2 (d18:1/22:0)259.0GLB1, NEU1, HEXA
8Ganglioside GA2 (d18:1/16:0)259.0NEU1, GLB1, HEXA
9Ganglioside GA2 (d18:1/12:0)259.0HEXA, NEU1, GLB1
10Ganglioside GA2 (d18:1/24:1(15Z))259.0GLB1, NEU1, HEXA
11Ganglioside GA2 (d18:1/18:0)259.0GLB1, NEU1, HEXA
12Ganglioside GA2 (d18:1/20:0)259.0HEXA, NEU1, GLB1
13Ganglioside GA2 (d18:1/24:0)259.0HEXA, GLB1, NEU1
14Ganglioside GA2 (d18:1/25:0)259.0NEU1, HEXA, GLB1
15Ganglioside GA2 (d18:1/26:0)259.0GLB1, HEXA, NEU1
16Ganglioside GA2 (d18:1/9Z-18:1)259.0HEXA, NEU1, GLB1
17Ganglioside GA2 (d18:1/26:1(17Z))259.0NEU1, HEXA, GLB1
18Ganglioside GM2 (d18:1/24:1(15Z))259.0HEXA, NEU1, GLB1
19Ganglioside GM2 (d18:1/24:0)259.0HEXA, NEU1, GLB1
20Ganglioside GM2 (d18:1/22:0)259.0HEXA, NEU1, GLB1
21valine469.0ARSA, GLA, PSAP
22Ganglioside GM2 (d18:1/25:0)259.0NEU1, HEXA, GLB1
23Galactosylceramide (d18:1/26:1(17Z))259.0GLA, NEU1, ARSA
24Ganglioside GM2 (d18:1/26:0)259.0GLB1, HEXA, NEU1
25Ganglioside GM2 (d18:1/9Z-18:1)259.0HEXA, NEU1, GLB1
26Galactosylceramide (d18:1/18:1(9Z))259.0ARSA, NEU1, GLA
27Ganglioside GM2 (d18:1/26:1(17Z))259.0HEXA, NEU1, GLB1
28Galactosylceramide (d18:1/18:0)258.9NEU1, GLA, ARSA
29Ganglioside GM2 (d18:1/18:0)258.9HEXA, NEU1, GLB1
30Ganglioside GM2 (d18:1/12:0)258.9HEXA, GLB1, NEU1
31Galactosylceramide (d18:1/16:0)258.9NEU1, GLA, ARSA
32Ganglioside GM2 (d18:1/16:0)258.9GLB1, NEU1, HEXA
33Galactosylceramide (d18:1/24:1(15Z))258.9NEU1, GLA, ARSA
34Galactosylceramide (d18:1/22:0)258.9NEU1, ARSA, GLA
35Galactosylceramide (d18:1/20:0)258.9ARSA, GLA, NEU1
36sulfatide468.7GLB1, PSAP, NEU1, ARSA
37n-acetylglucosamine468.7NEU1, HEXA, ARSA
38ceramide468.7GLA, ARSA, PSAP
39Lactosylceramide (d18:1/25:0)258.5GLB1, GLA, NEU1, HEXA
40Lactosylceramide (d18:1/12:0)258.5NEU1, HEXA, GLA, GLB1
41Lactosylceramide (d18:1/24:1(15Z))258.5HEXA, NEU1, GLA, GLB1
42Lactosylceramide (d18:1/16:0)258.5GLB1, GLA, NEU1, HEXA
43Lactosylceramide (d18:1/26:0)258.5GLB1, GLA, NEU1, HEXA
44Lactosylceramide (d18:1/26:1(17Z))258.5GLB1, GLA, HEXA, NEU1
45mannose468.4HEXA, NEU1, GLA, ARSA
46glycolipid468.4GLA, HEXA, NEU1, PSAP
47Water258.0ARSA, GLB1, NEU1, GLA, HEXA
48mannose 6-phosphate46 259.0HEXA, ARSA, GLA, NEU1, PSAP
49serine467.6PSAP, HEXA, GLA, ARSA, NEU1
50ganglioside467.6HEXA, NEU1, PSAP, GLA, GLB1, ARSA

GO Terms for genes affiliated with Gangliosidosis Gm1

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17Gene Ontology
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Cellular components related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.7ARSA, GLA, NEU1
2lysosomal lumenGO:0432026.8ARSA, GLB1, GLA, PSAP, NEU1, HEXA

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

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:0302039.4GLB1, HEXA
2keratan sulfate catabolic processGO:0423409.3GLB1, HEXA
3keratan sulfate metabolic processGO:0423399.1GLB1, HEXA
4sphingolipid metabolic processGO:0066657.2ARSA, HEXA, NEU1, PSAP, GLA, GLB1
5glycosphingolipid metabolic processGO:0066877.2HEXA, NEU1, PSAP, GLA, GLB1, ARSA
6small molecule metabolic processGO:0442817.1HEXA, NEU1, PSAP, GLA, GLB1, ARSA

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

idNameGO IDScoreTop Affiliating Genes
1galactoside bindingGO:0169369.5GLB1, GLA

Products for genes affiliated with Gangliosidosis Gm1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gangliosidosis Gm1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet