MCID: GNG009
MIFTS: 51

Gangliosidosis malady

Summaries for Gangliosidosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides.... more...

MalaCards: Gangliosidosis, also known as gangliosidoses, is related to gangliosidosis gm1 and tay-sachs disease. An important gene associated with Gangliosidosis is HEXA (hexosaminidase A (alpha polypeptide)), and among its related pathways are CS/DS degradation and Hyaluronan uptake and degradation. The compounds g(m2) ganglioside and jw 480 have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Gangliosidosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

gangliosidosis 8 10 44
gangliosidoses 8 60
disease, gangliosidosis 8


External Ids:

Disease Ontology8 DOID:2368
SNOMED-CT56 50967008
MeSH34 D005733

Related Diseases for Gangliosidosis

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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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis gm131.5GLB1, HEXA, PSAP, ARSA, NEU1, GLA
2tay-sachs disease30.8SMN1, GM2A, NEU1, PSAP, HEXB, HEXA
3sandhoff disease30.7HEXB, UGCG, GM2A, ARSA, HEXDC, HEXA
4motor neuron disease30.4HEXA, SMN1, HEXB
5muscular atrophy30.0SMN1
6dementia30.0HEXA, CHIT1, ARSA
7lysosomal storage disease30.0HEXA, HEXB, PSAP, GLA, GLB1, CHIT1
8cerebral lipidosis29.8ARSA
9angiokeratoma29.8GLA
10progressive muscular atrophy29.8SMN1
11spinal muscular atrophy29.8SMN1
12leukodystrophy29.8ARSH, GALC, PSAP
13metachromatic leukodystrophy29.8PSAP, GALC, ARSH, ARSA
14mucopolysaccharidosis29.8HEXB, HEXA, ARSH, ARSA, GALNS, GLB1
15fabry disease29.8GLA, PSAP, ARSA, CHIT1, UGCG
16gangliosidosis gm211.0
17neuronitis10.5
18gm1 gangliosidosis type 310.5
19gm1 gangliosidosis type 210.4
20gm1 gangliosidosis type 110.4
21sandhoff disease, infantile, juvenile, and adult forms10.3
22mongolian spot10.2
23cerebritis10.2
24gm2-gangliosidosis, ab variant10.2
25brain disease10.0
26hepatitis10.0
27neuronal ceroid lipofuscinosis10.0
28gm2 gangliosidosis, 0 variant10.0
29galactosialidosis10.0CTSA
30neuropathy10.0SMN1
31mucolipidosis10.0ARSA, GLB1
32farber lipogranulomatosis10.0PSAP
33fucosidosis10.0HEXA
34mucopolysaccharidosis vi10.0ARSA, ARSH
35cystic fibrosis10.0GLB1, SMN1, HEXA
36niemann–pick disease10.0PSAP, CHIT1
37mucosulfatidosis10.0ARSA, ARSH
38multiple sclerosis10.0CHIT1
39chondrodysplasia punctata syndrome10.0ARSH, EBP
40candidiasis10.0PSAP
41gaucher's disease10.0UGCG, PSAP, CHIT1
42mucolipidosis ii10.0ARSH, NEU1, GM2A, PSAP
43sphingolipidosis10.0PSAP, GALC, ARSA
44gaucher disease type 110.0UGCG, CHIT1, PSAP
45metabolic syndrome x10.0GLA, NEU1, ARSA, CTSA, HEXA
46mucopolysaccharidosis iv10.0GLB1, NEU1, ARSH, GALNS, CTSA
47krabbe disease10.0GALC, CHIT1, PSAP, ARSA, GLB1
48burns9.9
49normal pressure hydrocephalus9.9
50friedreich ataxia9.9

Graphical network of the top 20 diseases related to Gangliosidosis:



Diseases related to gangliosidosis

Clinical Features for Gangliosidosis

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Drugs & Therapeutics for Gangliosidosis

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

Search CenterWatch for Gangliosidosis

Drug clinical trials:

Search ClinicalTrials for Gangliosidosis

Search NIH Clinical Center for Gangliosidosis

Search CenterWatch for Gangliosidosis

Genetic Tests for Gangliosidosis

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Anatomical Context for Gangliosidosis

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32MalaCards
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MalaCards organs/tissues related to Gangliosidosis:

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

Animal Models for Gangliosidosis or affiliated genes

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36MGI
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Publications for Gangliosidosis

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50PubMed
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Articles related to Gangliosidosis:

(show top 50)    (show all 376)
idTitleAuthorsYear
1
Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. (23123943)
2013
2
Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan. (24161966)
2013
3
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. (23820084)
2013
4
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency. (23819787)
2013
5
GM2 Gangliosidosis in British Jacob Sheep. (24309906)
2013
6
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. (22083095)
2012
7
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. (22453766)
2012
8
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. (22772479)
2012
9
A fluorescent probe for GM1 gangliosidosis related I^-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol. (21974950)
2011
10
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. (21497194)
2011
11
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. (20409738)
2010
12
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. (18772556)
2008
13
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells. (17894780)
2007
14
Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. (16200419)
2005
15
Neuropsychological assessment of patients with late onset GM2 gangliosidosis. (15210895)
2004
16
An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. (15081585)
2004
17
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. (15086521)
2004
18
GM2 gangliosidosis variant B1 neuroradiological findings. (12527987)
2003
19
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. (12615653)
2003
20
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis. (12027830)
2002
21
Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report. (10943975)
2000
22
Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis. (10579334)
1999
23
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. (8198123)
1994
24
Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities. (8295410)
1993
25
Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis. (1917896)
1991
26
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients. (2138256)
1990
27
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. (2136940)
1990
28
Distribution of ectopic neurite growth and other geometrical distortions of CNS neurons in feline GM2 gangliosidosis. (2322847)
1990
29
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. (2135166)
1990
30
Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. (2504516)
1989
31
Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells. (3125124)
1988
32
Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study. (3125087)
1988
33
Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I. (3123871)
1987
34
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. (3081350)
1986
35
Diagnosis and characterization of GM 2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography. (3955841)
1986
36
Type 3 (adult) GM1 gangliosidosis: case report. (3929160)
1985
37
GM2 gangliosidosis in a Japanese spaniel. (2931941)
1985
38
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes. (6239713)
1984
39
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. (7468596)
1981
40
GM1 gangliosidosis: phenotypic variation in a single family. (6784662)
1981
41
Type 2 GM1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis. (6787458)
1981
42
Towards enzyme replacement in GM2 gangliosidosis: organ disposition and induced central nervous system uptake of human beta-hexosaminidase in the cat. (6778524)
1980
43
Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats. (573435)
1979
44
An explanation for variations in the clinical and biochemical symptoms of lysosomal-enzyme deficiency diseases such as GM1 gangliosidosis [proceedings]. (116891)
1979
45
Feline GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. (83795)
1978
46
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. (99746)
1978
47
The glycosaminoglycan content of the liver in bovine GM1 gangliosidosis. (404680)
1977
48
Infantile GM1 gangliosidosis: an easy diagnosis. (415507)
1977
49
Generalized gangliosidosis--GM1 (Langing disease). II. Morphological study. (4191160)
1970
50
Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis). (14564716)
1967

Genetic Variations for Gangliosidosis

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Expression for genes affiliated with Gangliosidosis

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

Search GEO for disease gene expression data for Gangliosidosis.

Pathways for genes affiliated with Gangliosidosis

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Gangliosidosis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1HEXB, HEXA
2
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10.1HEXB, HEXA
3
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10.0HEXA, HEXB, GLB1
49.9GLA, HEXB, HEXA
59.8CHIT1, HEXB, HEXA
69.7HEXA, HEXB, GALNS, GLB1
7
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9.3GLB1, GLB1L, GALNS, HEXB, HEXA
8
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9.3HEXA, HEXB, GALNS, GLB1L, GLB1
99.3HEXA, HEXDC, HEXB, NEU1, GLB1
108.1GLA, GLB1, NEU1, ARSA, GALNS, GALC
11
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7.0GM2A, HEXA, HEXB, GLA, GLB1, GLB1L
12
Hide members
6.7GALNS, GALC, CTSA, PSAP, HEXB, HEXA

Compounds for genes affiliated with Gangliosidosis

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4410.5HEXA, HEXB
2jw 4805910.5HEXA, HEXB
3flurofamide5910.5HEXA, HEXB
4thiamet g5910.5HEXA, HEXB
5(z)-pugnac5910.4HEXA, HEXB
6wwl 705910.4HEXA, HEXB
7ppca4410.4CTSA, NEU1
8p-nitrocatechol sulfate4410.3ARSH, ARSA
9formylglycine4410.3ARSA, ARSH
104-methylumbelliferyl-beta-d-glucoside4410.3PSAP, GALC
11psychosine4410.3PSAP, GALC
12N-Acetyl-D-glucosamine11 2411.2CHIT1, HEXB, HEXA
13chitin44 2411.2CHIT1, GLA
14mucopolysaccharide4410.2ARSH, ARSA
15deae-cellulose4410.2HEXB, HEXA
16glucuronic acid4410.1ARSH, GALNS, HEXA
17n-acetylgalactosamine 6-sulfate4410.1GALNS, ARSH, ARSA
18galactosylceramide4410.1ARSA, GALC, PSAP
19glucosamine44 11 2412.0NEU1, ARSH, GALNS
20cerebroside4410.0HEXA, ARSH, ARSA, GLA
21keratan sulfate4410.0GLB1, GALNS
22pdmp4410.0NEU1, UGCG
23chondroitin sulfate44 2411.0GALNS, ARSH, NEU1, GLB1
24lactosylceramide449.9PSAP, UGCG, GLA
25miglustat44 1110.9UGCG, CHIT1
26heparan sulfate44 2410.9HEXA, GALNS, ARSH, ARSA
27sulfate44 2410.9PSAP, GALNS, ARSH, ARSA
28n-acetylglucosamine449.8HEXA, HEXB, ARSA, NEU1, CHIT1
29glycosaminoglycan449.8GALNS, ARSH, ARSA
301-deoxynojirimycin44 59 1111.8GLA, NEU1
31glycosphingolipid449.7GLA, UGCG, ARSA, PSAP
32polysaccharide449.7GALNS, ARSA, NEU1, CHIT1
33galactose449.7GLA, NEU1, UGCG
34glycerol44 11 2411.7UGCG, NEU1, GLB1, GLA
35dihydroceramide44 2410.6GM2A, UGCG, GALC
36mannose449.6HEXA, HEXB, ARSA, NEU1, CHIT1, GLA
37ceramide449.6PSAP, ARSA, UGCG, GLA
38sulfatide449.6PSAP, ARSH, ARSA, NEU1, GLB1, GM2A
39sphingosine44 11 2411.6PSAP, UGCG, GM2A
40arginine449.3GALNS, ARSH, GLA, SMN1, PSAP
41glucosylceramide44 2410.0PSAP, GALC, UGCG, CHIT1, GLB1, GLA
42mannose 6-phosphate44 249.9GM2A, GLA, NEU1, ARSA, GALC, CTSA
43glycolipid448.9HEXA, GM2A, GLA, NEU1, UGCG, GALC
44ganglioside448.9ARSA, PSAP, HEXB, HEXA, UGCG, NEU1
45serine448.5HEXA, PSAP, CTSA, GALNS, ARSH, ARSA
46lipid448.4HEXA, PSAP, GALC, ARSH, ARSA, UGCG

GO Terms for genes affiliated with Gangliosidosis

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

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.6GM2A, NEU1, CTSA, PSAP
2lysosomeGO:0057648.4CTSA, GALC, ARSA, NEU1, CHIT1, GLA
3lysosomal lumenGO:0432028.0GM2A, HEXA, HEXB, PSAP, CTSA, GALC

Biological processes related to Gangliosidosis according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1oligosaccharide catabolic processGO:00931310.2GM2A, HEXB
2ganglioside catabolic processGO:00668910.2HEXA, HEXB, GM2A
3chondroitin sulfate catabolic processGO:03020710.1HEXB, HEXA
4hyaluronan metabolic processGO:03021210.1HEXB, HEXA
5lipid storageGO:01991510.1HEXA, HEXB, GM2A
6hyaluronan catabolic processGO:03021410.0HEXB, HEXA
7neuromuscular process controlling balanceGO:05088510.0HEXA, HEXB, GM2A
8keratan sulfate catabolic processGO:04234010.0HEXA, HEXB, GALNS, GLB1
9keratan sulfate metabolic processGO:0423399.9GLB1, GALNS, HEXB, HEXA
10glycosaminoglycan metabolic processGO:0302039.9GLB1, GALNS, HEXB, HEXA
11skeletal system developmentGO:0015019.5HEXA, HEXB, EBP
12carbohydrate metabolic processGO:0059758.7HEXA, HEXDC, HEXB, GALC, GALNS, GLB1L
13sphingolipid metabolic processGO:0066657.8GM2A, HEXA, GLA, GLB1, NEU1, UGCG
14glycosphingolipid metabolic processGO:0066877.7GLB1, NEU1, UGCG, ARSA, ARSH, GALC
15small molecule metabolic processGO:0442817.2GALNS, GALC, CTSA, PSAP, HEXB, HEXA

Molecular functions related to Gangliosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactoside bindingGO:01693610.1GLA, GLB1
2arylsulfatase activityGO:0040659.9ARSA, ARSH
3sulfuric ester hydrolase activityGO:0084849.9GALNS, ARSA
4beta-galactosidase activityGO:0045659.6GLB1L, GLB1
5beta-N-acetylhexosaminidase activityGO:0045639.6GM2A, HEXB, HEXDC, HEXA

Products for genes affiliated with Gangliosidosis

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  • Antibodies
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Sources for Gangliosidosis

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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