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

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Aliases & Descriptions for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 52 25 12
Tay-Sachs Disease, Ab Variant 24 25 27 39 68
Hexosaminidase Activator Deficiency 25 54 70
Gm2 Gangliosidosis, Ab Variant 24 54
Tay-Sachs Disease Ab Variant 11 70
Gm2 Activator Deficiency 24 70
Activator Deficiency/gm2 Gangliosidosis 25
Activator-Deficient Tay-Sachs Disease 25
 
Gm2 Activator Deficiency Disease 25
Tay-Sachs Disease, Variant Ab 11
Gm2-Gangliosidosis Ab Variant 70
Gangliosidosis Gm2 Ab Variant 50
Gm2 Gangliosidosis, Type Ab 25
Gm2-Gangliosidosis Ab 70
Ab Variant 25
Gm2gab 70

Characteristics:

Orphanet epidemiological data:

54
hexosaminidase activator deficiency:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

64
gm2-gangliosidosis, ab variant:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 272750
Disease Ontology11 DOID:4795
MeSH39 D049290
SNOMED-CT62 71253000
Orphanet54 ORPHA309246
ICD10 via Orphanet31 E75.0
MedGen37 C0268275

Summaries for Gm2-Gangliosidosis, Ab Variant

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OMIM:52 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.

Genetics Home Reference:25 GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

UniProtKB/Swiss-Prot:70 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 Gm2 family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii gm2-gangliosidosis, ab variant
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 variant12.0
2tay-sachs disease11.0
3metachromatic leukodystrophy9.6
4leukodystrophy9.6

Symptoms & Phenotypes for Gm2-Gangliosidosis, Ab Variant

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Symptoms by clinical synopsis from OMIM:

272750

Clinical features from OMIM:

272750

Human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 blindness64 HP:0000618
2 dementia64 HP:0000726
3 apathy64 HP:0000741
4 seizures64 HP:0001250
5 muscular hypotonia64 HP:0001252
6 global developmental delay64 HP:0001263
7 hypertonia64 HP:0001276
8 exaggerated startle response64 HP:0002267
9 poor head control64 HP:0002421
10 aspiration64 HP:0002835
11 paralysis64 HP:0003470
12 gm2-ganglioside accumulation64 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):

(show all 9)
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 [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-DeoxynojirimycinexperimentalPhase 22619130-96-21374
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
3Glycoside Hydrolase InhibitorsPhase 2128
4Hypoglycemic AgentsPhase 25733
5Cardiac GlycosidesPhase 2148
6Antiviral AgentsPhase 29732
7Anti-HIV AgentsPhase 23100
8Anti-Infective AgentsPhase 221402
9Anti-Retroviral AgentsPhase 23232

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

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Genetic tests related to Gm2-Gangliosidosis, Ab Variant:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease, Variant Ab27
2 Gm2 Activator Deficiency24 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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

36
Spinal cord, Brain

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:

70
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)SNVLikely pathogenic, Pathogenicrs730882196GRCh38Chr 5, 151259837: 151259837
2GM2ANM_000405.4(GM2A): c.412T> C (p.Cys138Arg)SNVPathogenicrs137852797GRCh37Chr 5, 150646460: 150646460
3GM2ANM_000405.4(GM2A): c.506G> C (p.Arg169Pro)SNVPathogenicrs104893892GRCh37Chr 5, 150646936: 150646936
4GM2AGM2A, 3-BP DEL, 262AAGdeletionPathogenicChr na, -1: -1
5GM2AGM2A, 1-BP DEL, 410AdeletionPathogenicChr na, -1: -1
6GM2ANM_000405.4(GM2A): c.160G> T (p.Glu54Ter)SNVPathogenicrs104893897GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet