MCID: GM2005
MIFTS: 27

Gm2-Gangliosidosis, Ab Variant malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Bone diseases categories

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 46 9 21 48
Hexosaminidase Activator Deficiency 21 48
Tay-Sachs Disease, Ab Variant 21 61
Activator Deficiency/gm2 Gangliosidosis 21
Activator-Deficient Tay-Sachs Disease 21
 
Gm2 Activator Deficiency Disease 21
Gangliosidosis Gm2 Ab Variant 44
Gm2 Gangliosidosis, Type Ab 21
Gm2 Activator Deficiency 20
Ab Variant 21


Classifications:



External Ids:

OMIM46 272750
Orphanet48 309246
ICD10 via Orphanet26 E75.0

Summaries for Gm2-Gangliosidosis, Ab Variant

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OMIM:46 The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related... (272750) more...

MalaCards based summary: Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency, is related to gangliosidosis and tay-sachs disease ab variant, and has symptoms including autosomal recessive inheritance, blindness and dementia. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 ganglioside activator). Affiliated tissues include brain and spinal cord.

Genetics Home Reference:21 GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

Related Diseases for Gm2-Gangliosidosis, Ab Variant

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Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii gm2-gangliosidosis, ab variant
Gangliosidosis Gm1 Gangliosidosis Gm2
Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, B, B1, Ab Variant

Diseases related to Gm2-Gangliosidosis, Ab Variant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis10.5
2tay-sachs disease ab variant10.4
3gm2-gangliosidosis, b, b1, ab variant10.4
4metachromatic leukodystrophy10.1
5leukodystrophy10.1

Graphical network of diseases related to Gm2-Gangliosidosis, Ab Variant:



Diseases related to gm2-gangliosidosis, ab variant

Symptoms for Gm2-Gangliosidosis, Ab Variant

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Symptoms by clinical synopsis from OMIM:

272750

Clinical features from OMIM:

272750

HPO human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 blindness HP:0000618
3 dementia HP:0000726
4 apathy HP:0000741
5 seizures HP:0001250
6 muscular hypotonia HP:0001252
7 global developmental delay HP:0001263
8 hypertonia HP:0001276
9 exaggerated startle response HP:0002267
10 poor head control HP:0002421
11 aspiration HP:0002835
12 paralysis HP:0003470
13 gm2-ganglioside accumulation HP:0003495

Drugs & Therapeutics for Gm2-Gangliosidosis, Ab Variant

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Drug clinical trials:

Search ClinicalTrials for Gm2-Gangliosidosis, Ab Variant

Search NIH Clinical Center for Gm2-Gangliosidosis, Ab Variant

Genetic Tests for Gm2-Gangliosidosis, Ab Variant

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Genetic tests related to Gm2-Gangliosidosis, Ab Variant:

id Genetic test Affiliating Genes
1 Gm2 Activator Deficiency20 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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MalaCards organs/tissues related to Gm2-Gangliosidosis, Ab Variant:

31
Brain, Spinal cord

Animal Models for Gm2-Gangliosidosis, Ab Variant or affiliated genes

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Publications for Gm2-Gangliosidosis, Ab Variant

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Articles related to Gm2-Gangliosidosis, Ab Variant:

idTitleAuthorsYear
1
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (8900233)
1996
2
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. (8244332)
1993
3
GM2-gangliosidosis, AB variant: clinico-pathological study of a case. (174379)
1975

Variations for Gm2-Gangliosidosis, Ab Variant

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UniProtKB/Swiss-Prot genetic disease variations for Gm2-Gangliosidosis, Ab Variant:

63
id Symbol AA change Variation ID SNP ID
1GM2Ap.Cys138ArgVAR_006947
2GM2Ap.Arg169ProVAR_011698

Clinvar genetic disease variations for Gm2-Gangliosidosis, Ab Variant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GM2ANM_000405.4(GM2A): c.412T> C (p.Cys138Arg)single nucleotide variantPathogenicrs137852797GRCh37Chr 5, 150646460: 150646460
2GM2ANM_000405.4(GM2A): c.506G> C (p.Arg169Pro)single nucleotide variantPathogenicrs104893892GRCh37Chr 5, 150646936: 150646936
3GM2AGM2A, 3-BP DEL, 262AAGdeletionPathogenic
4GM2AGM2A, 1-BP DEL, 410AdeletionPathogenic
5GM2ANM_000405.4(GM2A): c.160G> T (p.Glu54Ter)single nucleotide variantPathogenicrs104893897GRCh37Chr 5, 150639394: 150639394

Expression for genes affiliated with Gm2-Gangliosidosis, Ab Variant

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Search GEO for disease gene expression data for Gm2-Gangliosidosis, Ab Variant.

Pathways for genes affiliated with Gm2-Gangliosidosis, Ab Variant

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Compounds for genes affiliated with Gm2-Gangliosidosis, Ab Variant

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GO Terms for genes affiliated with Gm2-Gangliosidosis, Ab Variant

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Sources for Gm2-Gangliosidosis, Ab Variant

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet