MCID: GM2005
MIFTS: 32

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 50 24 12
Tay-Sachs Disease, Ab Variant 23 24 25 37 66
Hexosaminidase Activator Deficiency 24 52 68
Gm2 Gangliosidosis, Ab Variant 23 52
Tay-Sachs Disease Ab Variant 11 68
Gm2 Activator Deficiency 23 68
Activator Deficiency/gm2 Gangliosidosis 24
Activator-Deficient Tay-Sachs Disease 24
 
Gm2 Activator Deficiency Disease 24
Tay-Sachs Disease, Variant Ab 11
Gm2-Gangliosidosis Ab Variant 68
Gangliosidosis Gm2 Ab Variant 48
Gm2 Gangliosidosis, Type Ab 24
Gm2-Gangliosidosis Ab 68
Ab Variant 24
Gm2gab 68

Characteristics:

Orphanet epidemiological data:

52
hexosaminidase activator deficiency:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

62
gm2-gangliosidosis, ab variant:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 272750
Disease Ontology11 DOID:4795
MeSH37 D049290
SNOMED-CT60 71253000
Orphanet52 ORPHA309246
ICD10 via Orphanet29 E75.0
MedGen35 C0268275

Summaries for Gm2-Gangliosidosis, Ab Variant

About this section
OMIM:50 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 blindness, dementia and apathy. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator). Affiliated tissues include spinal cord and brain.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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

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:

idRelated DiseaseScoreTop Affiliating Genes
1gm2-gangliosidosis, b, b1, ab variant12.1
2tay-sachs disease11.1
3gangliosidosis10.5

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

Drugs & Therapeutics for Gm2-Gangliosidosis, Ab Variant

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatPhase 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 [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
2
1-DeoxynojirimycinPhase 22319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI

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 Tay-Sachs Disease, Variant Ab25
2 Gm2 Activator Deficiency23 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

About this section

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

34
Spinal cord, Brain

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
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

About this section

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

68
id Symbol AA change Variation ID SNP ID
1GM2Ap.Cys138ArgVAR_006947rs137852797
2GM2Ap.Arg169ProVAR_011698rs104893892

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GM2ANM_000405.4(GM2A): c.164C> T (p.Pro55Leu)single nucleotide variantLikely pathogenic, Pathogenicrs730882196GRCh37Chr 5, 150639398: 150639398
2GM2ANM_000405.4(GM2A): c.412T> C (p.Cys138Arg)single nucleotide variantPathogenicrs137852797GRCh37Chr 5, 150646460: 150646460
3GM2ANM_000405.4(GM2A): c.506G> C (p.Arg169Pro)single nucleotide variantPathogenicrs104893892GRCh37Chr 5, 150646936: 150646936
4GM2AGM2A, 3-BP DEL, 262AAGdeletionPathogenic
5GM2AGM2A, 1-BP DEL, 410AdeletionPathogenic
6GM2ANM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet