MCID: GM2005
MIFTS: 34

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:
49OMIM, 10Disease Ontology, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 49 11 22 23
Tay-Sachs Disease, Ab Variant 23 24 65 36
Hexosaminidase Activator Deficiency 23 51 67
Tay-Sachs Disease, Variant Ab 10 22
Tay-Sachs Disease Ab Variant 10 67
Gm2 Activator Deficiency 22 67
Activator Deficiency/gm2 Gangliosidosis 23
Activator-Deficient Tay-Sachs Disease 23
 
Gm2 Activator Deficiency Disease 23
Gm2 Gangliosidosis, Ab Variant 51
Gm2-Gangliosidosis Ab Variant 67
Gangliosidosis Gm2 Ab Variant 47
Gm2 Gangliosidosis, Type Ab 23
Gm2-Gangliosidosis Ab 67
Ab Variant 23
Gm2gab 67


Classifications:



External Ids:

OMIM49 272750
Disease Ontology10 DOID:4795
MeSH36 D049290
SNOMED-CT59 71253000
Orphanet51 309246
ICD10 via Orphanet28 E75.0
MedGen34 C0268275

Summaries for Gm2-Gangliosidosis, Ab Variant

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OMIM:49 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 tay-sachs disease, ab variant, is related to gangliosidosis and gm2-gangliosidosis, b, b1, 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 spinal cord, brain and bone.

Genetics Home Reference:23 GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

UniProtKB/Swiss-Prot:67 GM2-gangliosidosis AB: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B.

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
2gm2-gangliosidosis, b, b1, ab variant10.4
3tay-sachs disease10.1
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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Drugs for Gm2-Gangliosidosis, Ab Variant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 22072599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat Hydrochloride
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisActive, not recruitingNCT00418847Phase 2
2Biomarker for GM1/GM2 - GangliosidosesRecruitingNCT02298647

Search NIH Clinical Center for Gm2-Gangliosidosis, Ab Variant


Cochrane evidence based reviews: Tay-Sachs Disease, 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 Deficiency22 GM2A
2 Tay-Sachs Disease, Variant Ab24

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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

33
Spinal cord, Brain, Bone, Eye

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
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. (26082327)
2015
2
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (8900233)
1996
3
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. (8244332)
1993
4
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:

67
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet