MCID: GM2005
MIFTS: 34

Gm2-Gangliosidosis, Ab Variant malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Bone diseases

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

About this section

Aliases & Descriptions for Gm2-Gangliosidosis, Ab Variant:

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

Characteristics:

HPO:

61
gm2-gangliosidosis, ab variant:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 272750
Disease Ontology10 DOID:4795
MeSH36 D049290
SNOMED-CT59 71253000
Orphanet51 309246
ICD10 via Orphanet28 E75.0
MedGen34 C0268275
UMLS65 C0268275

Summaries for Gm2-Gangliosidosis, Ab Variant

About this section
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 gm2-gangliosidosis, b, b1, ab variant and tay-sachs disease, and has symptoms including gm2-ganglioside accumulation, paralysis and aspiration. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator). Affiliated tissues include brain, spinal cord and cortex.

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

About this section

Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii gm2-gangliosidosis, ab variant
Gangliosidosis Gm2 Gangliosidosis Gm1
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:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1gm2-gangliosidosis, b, b1, ab variant12.5
2tay-sachs disease11.5
3cerebellar ataxia10.3
4autosomal recessive cerebellar ataxia10.3
5neuroendocrine tumor10.3
6ataxia10.3
7coronary artery disease10.0
8hepatitis c virus10.0
9fraser syndrome10.0
10cystic fibrosis10.0
11hepatitis10.0
12hepatitis c10.0
13myopathy10.0
14vasculitis10.0

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



Diseases related to gm2-gangliosidosis, ab variant

Symptoms for Gm2-Gangliosidosis, Ab Variant

About this section

Symptoms by clinical synopsis from OMIM:

272750

Clinical features from OMIM:

272750

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

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

Drugs & Therapeutics for Gm2-Gangliosidosis, Ab Variant

About this section

Drugs for Gm2-Gangliosidosis, Ab Variant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 22172599-27-051634
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
2Hypoglycemic AgentsPhase 24503
3Glycoside Hydrolase InhibitorsPhase 2111
4Cardiac GlycosidesPhase 2128
5Anti-Retroviral AgentsPhase 22794
6Antiviral AgentsPhase 28071
7Anti-Infective AgentsPhase 217220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisCompletedNCT00418847Phase 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

About this section

Genetic tests related to Gm2-Gangliosidosis, Ab Variant:

id Genetic test Affiliating Genes
1 Gm2 Activator Deficiency22 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

About this section

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

33
Brain, Spinal cord, Cortex, Monocytes, Prefrontal cortex, Eye, Bone

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

About this section

Publications for Gm2-Gangliosidosis, Ab Variant

About this section

Articles related to Gm2-Gangliosidosis, Ab Variant:

idTitleAuthorsYear
1
Innate immune interleukin-1 receptor-associated kinase 4 exacerbates viral myocarditis by reducing CCR5(+) CD11b(+) monocyte migration and impairing interferon production. (24030499)
2013
2
Putative psychosis genes in the prefrontal cortex: combined analysis of gene expression microarrays. (18992145)
2008
3
Unusual thoracic outlet syndrome secondary to fractured clavicle. (11835011)
2002
4
Identifying Cloninger's temperament profiles as related to the early development of the metabolic cardiovascular syndrome in young men. (10446084)
1999

Variations for Gm2-Gangliosidosis, Ab Variant

About this section

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

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

Pathways for genes affiliated with Gm2-Gangliosidosis, Ab Variant

About this section

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

About this section

Sources for Gm2-Gangliosidosis, Ab Variant

About this section
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