MCID: GNG010
MIFTS: 19

Gangliosidosis Gm2 malady

Summaries for Gangliosidosis Gm2

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MalaCards: Gangliosidosis Gm2, also known as gm>2< gangliosidosis, is related to gangliosidosis. An important gene associated with Gangliosidosis Gm2 is GM2A (GM2 ganglioside activator). Affiliated tissues include brain, skin and bone.

Aliases & Classifications for Gangliosidosis Gm2

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

gangliosidosis gm2 8
gm>2< gangliosidosis 8


External Ids:

Disease Ontology8 DOID:3321
SNOMED-CT56 33316007
MeSH34 D020143

Related Diseases for Gangliosidosis Gm2

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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 Gm2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis10.4

Clinical Features for Gangliosidosis Gm2

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Drugs & Therapeutics for Gangliosidosis Gm2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Gangliosidosis Gm2

Drug clinical trials:

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Search NIH Clinical Center for Gangliosidosis Gm2

Search CenterWatch for Gangliosidosis Gm2

Genetic Tests for Gangliosidosis Gm2

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Anatomical Context for Gangliosidosis Gm2

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32MalaCards
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MalaCards organs/tissues related to Gangliosidosis Gm2:

32
Brain, Skin, Bone, Liver, Eye, Bone marrow

Animal Models for Gangliosidosis Gm2 or affiliated genes

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Publications for Gangliosidosis Gm2

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50PubMed
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Articles related to Gangliosidosis Gm2:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan. (24161966)
2013
2
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. (23820084)
2013
3
Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on I^-Hexosaminidase Activity in Sandhoff Fibroblasts. (24356898)
2013
4
Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case. (24354582)
2013
5
GM2 gangliosidosis: the prototype of lysosomal storage disorders. (22224667)
2012
6
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. (21520232)
2011
7
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. (21567908)
2011
8
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. (19447653)
2009
9
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
10
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells. (17894780)
2007
11
Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. (16200419)
2005
12
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. (15956171)
2005
13
Neuropsychological assessment of patients with late onset GM2 gangliosidosis. (15210895)
2004
14
Biochemical characterization of the GM2 gangliosidosis B1 variant. (15264019)
2004
15
GM2 gangliosidosis variant B1 neuroradiological findings. (12527987)
2003
16
Treatment of GM2 gangliosidosis: past experiences, implications, and future prospects. (11596993)
2001
17
Recurrent psychotic depression associated with GM2 gangliosidosis. (9775702)
1998
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
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. (9272736)
1997
21
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. (8757036)
1996
22
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (8581357)
1995
23
Muscle computed tomography features of motor neuron disease in late-onset GM2 gangliosidosis. (7849371)
1995
24
Parkinsonism in adult-onset GM2 gangliosidosis. (8041387)
1994
25
Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant. (8244659)
1993
26
Dystonia in GM2 gangliosidosis. (1484544)
1992
27
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis. (1532632)
1992
28
The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. (1825792)
1991
29
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. (2140574)
1990
30
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect. (2278539)
1990
31
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype. (2793417)
1989
32
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. (2522679)
1989
33
Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. (2949061)
1987
34
Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain. (3707714)
1986
35
AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics. (3081832)
1986
36
Diagnosis of AB variant, GM2 gangliosidosis. (3080943)
1986
37
Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity. (3156697)
1985
38
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case. (2967418)
1985
39
Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis. (2931975)
1985
40
Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. (2949109)
1985
41
Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates. (6436167)
1984
42
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. (6224417)
1983
43
Enzyme replacement in feline GM2 gangliosidosis: catabolic effects of human beta-hexosaminidase A. (6214798)
1982
44
Oculomotor abnormalities in chronic GM2 gangliosidosis. (6808109)
1982
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
Cytology, growth characteristics and cellular alterations following SV40-induced transformation of human foetal brain cells derived from a Gm2 gangliosidosis and control. (230195)
1979
48
Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O). (412673)
1977
49
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. (175770)
1976
50
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). (808963)
1975

Genetic Variations for Gangliosidosis Gm2

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Expression for genes affiliated with Gangliosidosis Gm2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gangliosidosis Gm2

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Pathways for genes affiliated with Gangliosidosis Gm2

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Compounds for genes affiliated with Gangliosidosis Gm2

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GO Terms for genes affiliated with Gangliosidosis Gm2

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Products for genes affiliated with Gangliosidosis Gm2

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Sources for Gangliosidosis Gm2

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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