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 marrow.

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 marrow, Eye, Bone, Liver

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
GM2 gangliosidosis in British Jacob sheep. (24391178)
2014
2
GM2 gangliosidosis in an adult pet rabbit. (22878054)
2013
3
GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. (23731274)
2013
4
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (22766310)
2012
5
Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. (22453766)
2012
6
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). (20926324)
2011
7
Neuroradiological findings in GM2 gangliosidosis variant B1. (22408656)
2011
8
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. (20695991)
2010
9
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis. (19765188)
2009
10
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency. (18808061)
2008
11
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. (17198760)
2007
12
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. (17237499)
2007
13
An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. (15081585)
2004
14
Structural basis of the GM2 gangliosidosis B variant. (14577003)
2003
15
Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant. (12760286)
2003
16
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. (14566483)
2003
17
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. (12615653)
2003
18
Naturally occurring mutations in GM2 gangliosidosis: a compendium. (11596984)
2001
19
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation. (10672323)
2000
20
Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis. (1386210)
1992
21
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis. (1570834)
1992
22
Molecular and clinical heterogeneity of adult GM2 gangliosidosis. (1840100)
1991
23
Altered phosphoinositide-specific phospholipase C and adenylyl cyclase in brain cortical membranes of cats with GM1 and GM2 gangliosidosis. (1661824)
1991
24
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients. (2138256)
1990
25
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. (2136940)
1990
26
Distribution of ectopic neurite growth and other geometrical distortions of CNS neurons in feline GM2 gangliosidosis. (2322847)
1990
27
Type 2 GM2 gangliosidosis (Sandhoff's disease) in Saudi Arabia. (2715613)
1989
28
Canine GM2 gangliosidosis: morphological and biochemical analysis. (2540585)
1989
29
B1 variant of GM2 gangliosidosis in a 12-year-old patient. (2521932)
1989
30
Post-partum psychosis in adult GM2 gangliosidosis. A case report. (2977954)
1988
31
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease. (2953177)
1987
32
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. (3081350)
1986
33
Fluorescence polarization analysis, lipid composition, and Na+, K+-ATPase kinetics of synaptosomal membranes in feline GM1 and GM2 gangliosidosis. (2983023)
1985
34
Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis. (2933318)
1985
35
Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis. (3157597)
1985
36
Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects. (3922757)
1985
37
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes. (6239713)
1984
38
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. (6235771)
1984
39
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
40
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level. (6614006)
1983
41
Beta-hexosaminidase isozymes and replacement therapy in Gm2 gangliosidosis. (6227586)
1983
42
The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis. (6848657)
1983
43
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB. (6801612)
1982
44
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. (7166018)
1982
45
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. (7468596)
1981
46
Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. (6458776)
1981
47
Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats. (573435)
1979
48
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
49
Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis. (25769)
1978
50
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

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