MCID: GNG009
MIFTS: 46

Gangliosidosis malady

Summaries for Gangliosidosis

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 sandhoff disease and gangliosidosis gm1. 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. Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Gangliosidosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT
See all sources

Aliases & Descriptions:

gangliosidosis 8 10 45
gangliosidoses 8 61
disease, gangliosidosis 8


External Ids:

Disease Ontology8 DOID:2368
SNOMED-CT57 50967008
MeSH35 D005733

Related Diseases for Gangliosidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1sandhoff disease30.9HEXB, UGCG, GM2A, ARSA, HEXDC, HEXA
2gangliosidosis gm130.7GLB1, HEXA, PSAP, ARSA, NEU1, GLA
3tay-sachs disease30.6SMN1, GM2A, NEU1, PSAP, HEXB, HEXA
4muscular atrophy30.1SMN1
5galactosialidosis29.8CTSA
6cerebral lipidosis29.8ARSA
7angiokeratoma29.8GLA
8progressive muscular atrophy29.8SMN1
9spinal muscular atrophy29.8SMN1
10metachromatic leukodystrophy29.8PSAP, GALC, ARSH, ARSA
11fabry disease29.8GLA, PSAP, ARSA, CHIT1, UGCG
12gm1 gangliosidosis type 310.5
13gm1 gangliosidosis type 210.5
14gm1 gangliosidosis type 110.4
15mongolian spot10.3
16sandhoff disease, infantile, juvenile, and adult forms10.2
17gm2-gangliosidosis, ab variant10.2
18bronchopulmonary dysplasia10.2
19brain disease10.1
20gm2 gangliosidosis, 0 variant10.1
21protein s deficiency10.0
22neuropathy10.0SMN1
23mucolipidosis10.0ARSA, GLB1
24farber lipogranulomatosis10.0PSAP
25fucosidosis10.0HEXA
26mucopolysaccharidosis vi10.0ARSA, ARSH
27motor neuron disease10.0HEXA, SMN1, HEXB
28cystic fibrosis10.0GLB1, SMN1, HEXA
29niemann–pick disease10.0PSAP, CHIT1
30mucosulfatidosis10.0ARSA, ARSH
31multiple sclerosis10.0CHIT1
32chondrodysplasia punctata syndrome10.0ARSH, EBP
33candidiasis10.0PSAP
34gaucher's disease10.0UGCG, PSAP, CHIT1
35mucolipidosis ii10.0ARSH, NEU1, GM2A, PSAP
36sphingolipidosis10.0PSAP, GALC, ARSA
37gaucher disease type 110.0UGCG, CHIT1, PSAP
38leukodystrophy10.0ARSH, GALC, PSAP
39dementia10.0HEXA, CHIT1, ARSA
40metabolic syndrome x10.0GLA, NEU1, ARSA, CTSA, HEXA
41mucopolysaccharidosis iv10.0GLB1, NEU1, ARSH, GALNS, CTSA
42mucopolysaccharidosis10.0HEXB, HEXA, ARSH, ARSA, GALNS, GLB1
43krabbe disease10.0GALC, CHIT1, PSAP, ARSA, GLB1
44lysosomal storage disease10.0HEXA, HEXB, PSAP, GLA, GLB1, CHIT1
45normal pressure hydrocephalus9.9
46friedreich ataxia9.9
47factor v deficiency9.9
48adult syndrome9.9
49neuroleptic malignant syndrome9.9
50dihydropyrimidine dehydrogenase deficiency9.9

Graphical network of the top 20 diseases related to Gangliosidosis:



Diseases related to gangliosidosis

Clinical Features for Gangliosidosis

Drugs & Therapeutics for Gangliosidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Gangliosidosis

Animal Models for Gangliosidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Gangliosidosis

Sources:
51PubMed
See all sources

Articles related to Gangliosidosis:

(show top 50)    (show all 519)
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
Four novel mutations in the I^-galactosidase gene identified in infantile type of GM1 gangliosidosis. (22234367)
2012
3
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. (22115551)
2012
4
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
5
A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties]. (17491335)
2007
6
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. (17237499)
2007
7
GM1-gangliosidosis type I. (16942584)
2006
8
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. (15714521)
2005
9
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. (15108204)
2004
10
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. (15086521)
2004
11
GM2 gangliosidosis variant B1 neuroradiological findings. (12527987)
2003
12
Structural basis of the GM2 gangliosidosis B variant. (14577003)
2003
13
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (12644936)
2003
14
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. (10571006)
1999
15
Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands. (9323577)
1997
16
Comments on "type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl". (8936363)
1996
17
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. (8896570)
1996
18
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. (8198123)
1994
19
Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. (7694998)
1994
20
Brain imaging in late-onset GM2 gangliosidosis. (8413966)
1993
21
Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant. (8244659)
1993
22
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. (8403628)
1993
23
Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis. (1386210)
1992
24
Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis. (1917896)
1991
25
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. (2140574)
1990
26
A case of the B1 variant of GM2-gangliosidosis. (2146441)
1990
27
Landing disease, GM1 generalized gangliosidosis, and malabsorption syndrome. (2508073)
1989
28
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. (2522679)
1989
29
GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts. (3130055)
1988
30
Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters. (3133574)
1988
31
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
32
Presence of glycoproteins containing the polylactosamine structure in brain and liver of GM1 gangliosidosis patients. Comparative study between clinical types I and II, using endo-beta-galactosidase enzyme. (3088498)
1986
33
Cerebral atrophy, macrosomia, and cutaneous telangiectasia in GM1 gangliosidosis. (3930682)
1985
34
Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis. (3157597)
1985
35
Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization. (6724528)
1984
36
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. (6224417)
1983
37
GM1 gangliosidosis presenting as neonatal ascites. (6806457)
1982
38
Artificial insemination by donors: the need for genetic screening: late-infantile GM2-gangliosidosis resulting from this technique. (7464883)
1981
39
Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats. (573435)
1979
40
Peripheral intraaxonal storage in Tay-Sachs' disease (GM2-gangliosidosis type 1. (512688)
1979
41
Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. (117700)
1979
42
An explanation for variations in the clinical and biochemical symptoms of lysosomal-enzyme deficiency diseases such as GM1 gangliosidosis [proceedings]. (116891)
1979
43
Fine structure of meganeurites and secondary growth processes in feline GM1-gangliosidosis. (415797)
1978
44
Substrate specificity of hexosaminidase A isolated from the liver of a patient with a rare form (AB variant) of infantile GM2 gangliosidosis and control tissues. (96668)
1978
45
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
46
Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis. (403037)
1977
47
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. (175770)
1976
48
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). (808963)
1975
49
Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. (5567894)
1971
50
Ultrastructure of heart muscle in generalized gangliosidosis GM1. (5580605)
1971

Genetic Variations for Gangliosidosis

Expression for genes affiliated with Gangliosidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Gangliosidosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Gangliosidosis

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Gangliosidosis according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1g(m2) ganglioside4510.5HEXA, HEXB
2jw 4806010.5HEXA, HEXB
3flurofamide6010.5HEXA, HEXB
4thiamet g6010.5HEXA, HEXB
5(z)-pugnac6010.4HEXA, HEXB
6wwl 706010.4HEXA, HEXB
7ppca4510.4CTSA, NEU1
8p-nitrocatechol sulfate4510.3ARSH, ARSA
9formylglycine4510.3ARSA, ARSH
104-methylumbelliferyl-beta-d-glucoside4510.3PSAP, GALC
11psychosine4510.3PSAP, GALC
12N-Acetyl-D-glucosamine11 2411.2CHIT1, HEXB, HEXA
13chitin45 2411.2CHIT1, GLA
14mucopolysaccharide4510.2ARSH, ARSA
15deae-cellulose4510.2HEXB, HEXA
16glucuronic acid4510.1ARSH, GALNS, HEXA
17n-acetylgalactosamine 6-sulfate4510.1GALNS, ARSH, ARSA
18galactosylceramide4510.1ARSA, GALC, PSAP
19glucosamine45 11 2412.0NEU1, ARSH, GALNS
20cerebroside4510.0HEXA, ARSH, ARSA, GLA
21keratan sulfate4510.0GLB1, GALNS
22pdmp4510.0NEU1, UGCG
23chondroitin sulfate45 2411.0GALNS, ARSH, NEU1, GLB1
24lactosylceramide459.9PSAP, UGCG, GLA
25miglustat45 1110.9UGCG, CHIT1
26heparan sulfate45 2410.9HEXA, GALNS, ARSH, ARSA
27sulfate45 2410.9PSAP, GALNS, ARSH, ARSA
28n-acetylglucosamine459.8HEXA, HEXB, ARSA, NEU1, CHIT1
29glycosaminoglycan459.8GALNS, ARSH, ARSA
301-deoxynojirimycin45 60 1111.8GLA, NEU1
31glycosphingolipid459.7GLA, UGCG, ARSA, PSAP
32polysaccharide459.7GALNS, ARSA, NEU1, CHIT1
33galactose459.7GLA, NEU1, UGCG
34glycerol45 11 2411.7UGCG, NEU1, GLB1, GLA
35dihydroceramide45 2410.6GM2A, UGCG, GALC
36mannose459.6HEXA, HEXB, ARSA, NEU1, CHIT1, GLA
37ceramide459.6PSAP, ARSA, UGCG, GLA
38sulfatide459.6PSAP, ARSH, ARSA, NEU1, GLB1, GM2A
39sphingosine45 11 2411.6PSAP, UGCG, GM2A
40arginine459.3GALNS, ARSH, GLA, SMN1, PSAP
41glucosylceramide45 2410.0PSAP, GALC, UGCG, CHIT1, GLB1, GLA
42mannose 6-phosphate45 249.9GM2A, GLA, NEU1, ARSA, GALC, CTSA
43glycolipid458.9HEXA, GM2A, GLA, NEU1, UGCG, GALC
44ganglioside458.9ARSA, PSAP, HEXB, HEXA, UGCG, NEU1
45serine458.5HEXA, PSAP, CTSA, GALNS, ARSH, ARSA
46lipid458.4HEXA, PSAP, GALC, ARSH, ARSA, UGCG

GO Terms for genes affiliated with Gangliosidosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gangliosidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet