MCID: GNG001
MIFTS: 54

Gangliosidosis Gm1 malady

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

Summaries for Gangliosidosis Gm1

About this section


NIH Rare Diseases:42 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 based summary: Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to mucolipidosis 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.

Genetics Home Reference:22 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...

Descriptions from OMIM:46 230500,230600,230650

Aliases & Classifications for Gangliosidosis Gm1

About this section

Gangliosidosis Gm1, Aliases & Descriptions:

Name: Gangliosidosis Gm1 9 44 61
Gm1 Gangliosidosis 9 42 21 23 22
Deficiency of Beta-Galactosidase 9 61
Beta-Galactosidase Deficiency 9 61
Beta-Galactosidosis 42 61
Beta-Galactosidase-1 Deficiency 22
 
Beta Galactosidase 1 Deficiency 42
Beta-Galactosidase-1 Deficiency 61
Gm 1 Gangliosidosis 9
Landing Syndrome 9
Glb 1 Deficiency 42


Classifications:



External Ids:

Disease Ontology9 DOID:3322
SNOMED-CT56 238025006, 32917001
MeSH34 D016537
NCIt39 C84739

Related Diseases for Gangliosidosis Gm1

About this section

Diseases in the Gm1 Gangliosidosis Type 1 family:

gangliosidosis gm1 Gangliosidosis
Gangliosidosis Gm2 Gm1 Gangliosidosis Type 2
Gm1 Gangliosidosis Type 3 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
1mucolipidosis30.9ARSA, GLB1
2krabbe disease30.8PSAP, GLB1, ARSA
3gangliosidosis30.4GLB1, PSAP, NEU1, HEXA
4mucopolysaccharidosis iv30.4NEU1, GLB1
5fabry disease30.2PSAP, GLA, ARSA
6mucolipidosis ii30.2PSAP, NEU1
7mucopolysaccharidosis30.2ARSA, GLB1, HEXA
8lysosomal storage disease29.3ARSA, HEXA, NEU1, PSAP, GLA, GLB1
9gm1 gangliosidosis type 129.1HEXA, NEU1, PSAP, GLA, GLB1, ARSA
10dystonia10.7
11beta-galactosidase-1 deficiency10.5
12galactosialidosis10.5
13mongolian spot10.5
14gm1 gangliosidosis type 310.5
15cerebritis10.4
16neuronal ceroid lipofuscinosis10.4
17fucosidosis10.3HEXA
18gaucher's disease10.2PSAP
19dilated cardiomyopathy10.2
20hepatitis10.2
21angiokeratoma10.2
22dementia10.2
23myopathy10.2
24optic atrophy10.2
25gm1 gangliosidosis type 210.2
26hydrops fetalis10.2
27rhombencephalosynapsis10.2
28cerebral atrophy10.2
29cerebellar ataxia10.2
30mucolipidoses10.2
31neuronitis10.2
32myoclonus epilepsy10.2
33ataxia10.2
34myoclonus10.2
35leukodystrophy10.2PSAP
36sphingolipidosis10.1ARSA, PSAP
37sandhoff disease10.1ARSA, HEXA
38metachromatic leukodystrophy10.1ARSA, PSAP
39noonan syndrome10.1GLA, GLB1
40berger disease9.8NEU1, GLA
41tay-sachs disease9.7PSAP, NEU1, HEXA
42metabolic syndrome x9.5HEXA, NEU1, GLA, ARSA

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



Diseases related to gangliosidosis gm1

Symptoms for Gangliosidosis Gm1

About this section


Clinical features from OMIM:

230500,230600,230650

Drugs & Therapeutics for Gangliosidosis Gm1

About this section

Drug clinical trials:

Search ClinicalTrials for Gangliosidosis Gm1

Search NIH Clinical Center for Gangliosidosis Gm1

Genetic Tests for Gangliosidosis Gm1

About this section

Genetic tests related to Gangliosidosis Gm1:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis21 23

Anatomical Context for Gangliosidosis Gm1

About this section

MalaCards organs/tissues related to Gangliosidosis Gm1:

32
Brain, Spinal cord, Heart

Animal Models for Gangliosidosis Gm1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Gangliosidosis Gm1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6ARSA, PSAP, HEXA
2MP:00053978.3ARSA, GLB1, PSAP, NEU1
3MP:00053908.0HEXA, NEU1, PSAP, GLB1
4MP:00053877.9ARSA, GLB1, GLA, PSAP, NEU1
5MP:00053707.8HEXA, NEU1, PSAP, GLA, GLB1
6MP:00053677.7HEXA, NEU1, PSAP, GLA, GLB1
7MP:00036317.7HEXA, NEU1, PSAP, GLB1, ARSA
8MP:00053767.6ARSA, GLB1, PSAP, NEU1, HEXA
9MP:00053867.3ARSA, GLB1, GLA, PSAP, NEU1, HEXA

Publications for Gangliosidosis Gm1

About this section

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

About this section

Expression for genes affiliated with Gangliosidosis Gm1

About this section
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

About this section

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 I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.5GLB1, GLA
2
Show member pathways
9.4GLB1, HEXA
3
Show member pathways
9.4GLB1, HEXA
4
Show member pathways
Ganglio Sphingolipid Metabolism37
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

About this section
Sources:
25HMDB, 44Novoseek
See all sources

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
3galactosylceramide449.4PSAP, ARSA
4glycosphingolipid449.4GLA, ARSA, PSAP
5cerebroside449.3ARSA, GLA, HEXA
6glucosylceramide44 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
21valine449.0ARSA, 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
36sulfatide448.7GLB1, PSAP, NEU1, ARSA
37n-acetylglucosamine448.7NEU1, HEXA, ARSA
38ceramide448.7GLA, 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
45mannose448.4HEXA, NEU1, GLA, ARSA
46glycolipid448.4GLA, HEXA, NEU1, PSAP
47Water258.0ARSA, GLB1, NEU1, GLA, HEXA
48mannose 6-phosphate44 259.0HEXA, ARSA, GLA, NEU1, PSAP
49serine447.6PSAP, HEXA, GLA, ARSA, NEU1
50ganglioside447.6HEXA, NEU1, PSAP, GLA, GLB1, ARSA

GO Terms for genes affiliated with Gangliosidosis Gm1

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gangliosidosis Gm1

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet