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 skin, 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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Sources:
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, Skin, Bone, Bone marrow, Testes, Cerebellum, Globus pallidus, Eye, Heart, Retina, Salivary gland, Cortex, Whole blood

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
GM2 gangliosidosis in an adult pet rabbit. (22878054)
2013
2
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. (21520232)
2011
3
Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain. (21508255)
2011
4
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology. (19166507)
2009
5
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. (18524657)
2008
6
Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis. (24299640)
2007
7
Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice. (17442056)
2007
8
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. (17198760)
2007
9
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. (15748609)
2005
10
Pathologic quiz case: hepatosplenomegaly in an infant with hypotonia and coarse facial features. Gangliosidosis type 1. (15504069)
2004
11
Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis. (12655116)
2003
12
Studies on the molecular mechanism of GM(2) gangliosidosis]. (12673576)
2003
13
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (12644936)
2003
14
Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews. (11596983)
2001
15
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. (10839995)
2000
16
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. (10751590)
2000
17
Recombinant GM2-activator protein stimulates in vivo degradation of GA2 in GM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay. (9972878)
1999
18
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A. (9454570)
1998
19
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
20
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. (8757036)
1996
21
Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis. (8950839)
1996
22
Gangliosidosis in emus (Dromaius novaehollandiae). (7677649)
1995
23
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (8581357)
1995
24
Clinical and clinicopathologic characteristics of ovine GM-1 gangliosidosis. (8064659)
1994
25
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. (8068159)
1994
26
Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new case. (8355822)
1993
27
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. (8403628)
1993
28
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1- gangliosidosis patient. (1487238)
1992
29
Dysmyelinogenesis in animal model of GM1 gangliosidosis. (1388413)
1992
30
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis. (1532632)
1992
31
Molecular and clinical heterogeneity of adult GM2 gangliosidosis. (1840100)
1991
32
Severity of GM1 gangliosidosis and urinary oligosaccharide excretion. (2493350)
1989
33
Landing disease, GM1 generalized gangliosidosis, and malabsorption syndrome. (2508073)
1989
34
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. (2522679)
1989
35
A case of GM1 gangliosidosis type I. (2500629)
1989
36
B1 variant of GM2 gangliosidosis in a 12-year-old patient. (2521932)
1989
37
GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings. (3136586)
1988
38
Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis. (3121133)
1987
39
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease. (2953177)
1987
40
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). (3017984)
1986
41
Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects. (3922757)
1985
42
Regional variation of brain gangliosides in feline GM1 gangliosidosis. (6407859)
1983
43
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. (7166018)
1982
44
Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. (6458776)
1981
45
Accumulation of ganglioside Gm2 in cerebrospinal fluid of a patient with the variant AB of infantile Gm2 gangliosidosis. (7243492)
1981
46
Assay of ganglioside GM2-N-acetyl-beta-D-galactosaminidase activity in human fibroblasts employing the natural activator protein--diagnosis of variant forms of GM2 gangliosidosis. (6781795)
1980
47
Enzyme replacement using liposome carriers in feline Gm1 gangliosidosis fibroblasts. (100709)
1978
48
Ocular pathology of bovine GM1 gangliosidosis. (416644)
1978
49
Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency. (824730)
1976
50
Corneal clouding in GM1-generalized gangliosidosis. (823960)
1976

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

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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
Hide members
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
Hide members
9.3HEXA, HEXB, GALNS, GLB1L, GLB1
99.3HEXA, HEXDC, HEXB, NEU1, GLB1
108.1GLA, GLB1, NEU1, ARSA, GALNS, GALC
11
Hide members
7.0GM2A, HEXA, HEXB, GLA, GLB1, GLB1L
12
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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:0057648.4GM2A, CTSA, GLA, CHIT1, NEU1, ARSA
3lysosomal lumenGO:0432028.0ARSA, GLB1, GLA, GM2A, GALNS, 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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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