MCID: GNG001
MIFTS: 54

Gangliosidosis Gm1 malady

Summaries for Gangliosidosis Gm1

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 Ganglio Sphingolipid Metabolism. The compounds lactosylceramide and 1-deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, 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:63 The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the... more...

Description from OMIM:46 230650,230600,230500

Aliases & Classifications for Gangliosidosis Gm1

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

gangliosidosis gm1 8 44 60
gm1 gangliosidosis 8 42 20 22 21
beta-galactosidase deficiency 8 60
beta-galactosidase-1 deficiency 21
deficiency of beta-galactosidase 8
beta galactosidase 1 deficiency 42
gm>1< gangliosidosis 8
beta-galactosidosis 42
glb 1 deficiency 42
landing syndrome 8


External Ids:

Disease Ontology8 DOID:3322
MeSH34 D016537
SNOMED-CT56 238025006, 32917001
NCIt39 C84739

Related Diseases for Gangliosidosis Gm1

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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 40)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis30.9HEXA, PSAP, GALNS, GLB1, NEU1
2krabbe disease30.6GLB1, ARSA, PSAP
3mucolipidosis30.4PSAP, NEU1, GLB1
4lysosomal storage disease30.4HEXA, PSAP, GALNS, ARSA, NEU1, GLB1
5fabry disease30.2GLA, ARSA, PSAP
6mucolipidosis ii30.2NEU1, PSAP
7mucopolysaccharidosis iv30.2GALNS, NEU1, GLB1
8mucopolysaccharidosis30.2GLB1, ARSA, GALNS, HEXA
9gm1 gangliosidosis type 210.6
10gm1 gangliosidosis type 310.5
11mongolian spot10.5
12galactosialidosis10.4
13cerebritis10.3
14neuronal ceroid lipofuscinosis10.3
15complement deficiency10.3
16hepatitis a10.2
17angiokeratoma10.2
18dementia10.2
19dilated cardiomyopathy10.2
20hepatitis10.2
21myopathy10.2
22optic atrophy10.2
23neuronitis10.2
24cerebellar ataxia10.2
25gm1 gangliosidosis type 110.2
26cerebral lipidosis10.0ARSA
27leukodystrophy10.0PSAP
28gaucher's disease10.0PSAP
29fucosidosis10.0HEXA
30niemann–pick disease10.0HEXA
31dysostosis10.0ARSA
32nephrosis10.0NEU1
33sandhoff disease10.0HEXA, ARSA
34cystic fibrosis10.0GLB1, HEXA
35fibrosarcoma10.0GLB1
36sphingolipidosis10.0ARSA, PSAP
37iga glomerulonephritis10.0GLA, NEU1
38tay-sachs disease10.0NEU1, PSAP, HEXA
39metachromatic leukodystrophy10.0HEXA, PSAP, ARSA, GLA
40metabolic syndrome x10.0GLA, NEU1, ARSA, HEXA

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



Diseases related to gangliosidosis gm1

Clinical Features for Gangliosidosis Gm1

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46OMIM
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Clinical features from OMIM:

230650,230600,230500

Drugs & Therapeutics for Gangliosidosis Gm1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Gangliosidosis Gm1

Search CenterWatch for Gangliosidosis Gm1

Genetic Tests for Gangliosidosis Gm1

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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

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32MalaCards
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MalaCards organs/tissues related to Gangliosidosis Gm1:

32
Brain, Spinal cord, Liver, Globus pallidus, Cerebellum, Bone, Bone marrow, Eye, Skin, Heart, Retina, Salivary gland, Cortex, Testes

Animal Models for Gangliosidosis Gm1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gangliosidosis Gm1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4HEXA, PSAP, NEU1, GLB1, GLA
2MP:00053978.2GLB1, EBP, NEU1, ARSA, PSAP
3MP:00053867.6HEXA, DYM, PSAP, ARSA, NEU1, GLB1
4MP:00053787.5HEXA, DYM, PSAP, NEU1, EBP, GLB1
5MP:00053907.5HEXA, DYM, PSAP, GALNS, NEU1, GLB1
6MP:00053767.3HEXA, PSAP, GALNS, ARSA, NEU1, GLB1
7MP:00053677.2GLA, HEXA, DYM, PSAP, GALNS, NEU1

Publications for Gangliosidosis Gm1

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50PubMed
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Articles related to Gangliosidosis Gm1:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. (23831247)
2013
2
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. (22083095)
2012
3
Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis. (22618082)
2012
4
A fluorescent probe for GM1 gangliosidosis related I^-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol. (21974950)
2011
5
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. (20175788)
2010
6
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. (20920281)
2010
7
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. (19279282)
2009
8
Morphological analysis of corneal opacity in Shiba dog with GM1 gangliosidosis. (18840960)
2008
9
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. (18524657)
2008
10
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. (18387328)
2008
11
Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis. (24299640)
2007
12
Neuroimaging findings in infantile GM1 gangliosidosis. (17052929)
2006
13
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. (15991326)
2005
14
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. (15791924)
2005
15
Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer. (12900764)
2003
16
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. (12615653)
2003
17
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (12644936)
2003
18
Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report. (10943975)
2000
19
High frequency of type 1 GM1 gangliosidosis in southern Brazil. (10517258)
1999
20
Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands. (9323577)
1997
21
GM1 gangliosidosis type 3 with severe jaw-closing impairment. (9395131)
1997
22
beta-galactosidosis--GM1 gangliosidosis and Morquio B disease]. (8577043)
1995
23
Mongolian spots and GM1 gangliosidosis type one. (8433304)
1993
24
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1- gangliosidosis patient. (1487238)
1992
25
Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis. (1917896)
1991
26
Ultrastructural lesions of ovine GM1 gangliosidosis. (1788267)
1991
27
Altered phosphoinositide-specific phospholipase C and adenylyl cyclase in brain cortical membranes of cats with GM1 and GM2 gangliosidosis. (1661824)
1991
28
Characterization of a novel type of chain-terminator Gal beta 1-6Gal beta 1-4)GlcNAc in an oligosaccharide related to N-glycosylated protein glycans isolated from GM1 the urine of patients with gangliosidosis. (1904026)
1991
29
Similarity of lectin histochemistry of a lysosomal storage disease in a New Zealand lamb to that of ovine GM1 gangliosidosis. (1949511)
1991
30
A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. (2127425)
1990
31
Characteristics of asparagine-linked sugar chains of sphingolipid activator protein 1 purified from normal human liver and GM1 gangliosidosis (type 1) liver. (2110822)
1990
32
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. (2135166)
1990
33
Mongolian spots and GM1 type 1 gangliosidosis. (2360930)
1990
34
Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. (2504516)
1989
35
Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells. (3125124)
1988
36
Further studies on ectopic dendrite growth and other geometrical distortions of neurons in feline GM1 gangliosidosis. (3112606)
1987
37
Atypical adult GM1 gangliosidosis: biochemical comparison with other forms of primary beta-galactosidase deficiency. (3092133)
1986
38
Characterization of neutral and acidic glycosphingolipids in brains of two patients with GM1 gangliosidosis type 1 and type 2. (3919156)
1985
39
Increased metabolism of acetylcholine in brain of cats with Gm1 gangliosidosis. (3931858)
1985
40
GM1 gangliosidosis, type II. (7118242)
1982
41
GM1 gangliosidosis presenting as neonatal ascites. (6806457)
1982
42
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. (6783061)
1981
43
Type 2 GM1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis. (6787458)
1981
44
Enzyme replacement using liposome carriers in feline Gm1 gangliosidosis fibroblasts. (100709)
1978
45
Eccrine sweat gland involvement in GM1 gangliosidosis. (418085)
1978
46
Leukocyte beta-galactosidase activity in the diagnosis of bovine GM1 gangliosidosis. (405787)
1977
47
The use of tears for diagnosis of GM1 gangliosidosis. (21045)
1977
48
Studies on cultured skin fibroblasts from calves with GM1 gangliosidosis. (16043)
1977
49
Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency. (824730)
1976
50
Generalized gangliosidosis--GM1 (Langing disease). II. Morphological study. (4191160)
1970

Genetic Variations for Gangliosidosis Gm1

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Expression for genes affiliated with Gangliosidosis Gm1

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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

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29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Gangliosidosis Gm1

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Gangliosidosis Gm1 according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1lactosylceramide449.9GLA, PSAP
21-deoxynojirimycin44 59 1111.9GLA, NEU1
3galactosylceramide449.9ARSA, PSAP
4n-acetyllactosamine44 2410.9GLA, NEU1
5glutaraldehyde449.8NEU1, GLA
6cerebroside449.7GLA, ARSA, HEXA
7glucosylceramide44 2410.6GLA, GLB1, PSAP
8n-acetylgalactosamine 6-sulfate449.6GALNS, ARSA
9glycerol44 11 2411.6GLA, GLB1, NEU1
10glycosphingolipid449.6PSAP, ARSA, GLA
11keratan sulfate449.6GLB1, GALNS
12n-acetylglucosamine449.6HEXA, ARSA, NEU1
13ceramide449.5GLA, ARSA, PSAP
14valine449.5PSAP, ARSA, GLA
15lactose44 1110.5GLA, GLB1
16glucuronic acid449.5HEXA, GALNS
17chondroitin44 2410.4GLB1, GALNS
18cellulose acetate449.4NEU1, GALNS
19mannose449.3GLA, NEU1, ARSA, HEXA
20hydrogen44 2410.2GLA, ARSA, PSAP
21chondroitin sulfate44 2410.2GLB1, NEU1, GALNS
22sulfatide449.2PSAP, ARSA, NEU1, GLB1
23heparan sulfate44 2410.2HEXA, GALNS, ARSA
24glycolipid449.1HEXA, PSAP, NEU1, GLA
25glucosamine44 11 2411.1GALNS, NEU1
26sulfate44 2410.1PSAP, GALNS, ARSA
27polysaccharide448.9GALNS, ARSA, NEU1
28mannose 6-phosphate44 249.8HEXA, PSAP, ARSA, NEU1, GLA
29ganglioside448.4GLA, GLB1, NEU1, ARSA, PSAP, HEXA
30cysteine448.3NEU1, ARSA, GALNS, PSAP
31serine447.9HEXA, PSAP, GALNS, ARSA, NEU1, GLA

GO Terms for genes affiliated with Gangliosidosis Gm1

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3ARSA, NEU1, GLA
2lysosomal lumenGO:0432026.9HEXA, PSAP, GALNS, ARSA, NEU1, GLB1

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

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Sources for Gangliosidosis Gm1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet