GM2GAB
MCID: GM2005
MIFTS: 34

Gm2-Gangliosidosis, Ab Variant (GM2GAB) malady

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

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

Aliases & Descriptions for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 54 25 13
Tay-Sachs Disease, Ab Variant 24 25 29 42 69
Hexosaminidase Activator Deficiency 25 56 66
Gm2 Gangliosidosis, Ab Variant 24 56
Tay-Sachs Disease Ab Variant 12 66
Gm2 Activator Deficiency 24 66
Activator Deficiency/gm2 Gangliosidosis 25
Activator-Deficient Tay-Sachs Disease 25
Gm2 Activator Deficiency Disease 25
Tay-Sachs Disease, Variant Ab 12
Gm2-Gangliosidosis Ab Variant 66
Gangliosidosis Gm2 Ab Variant 52
Gm2 Gangliosidosis, Type Ab 25
Gm2-Gangliosidosis Ab 66
Ab Variant 25
Gm2gab 66

Characteristics:

Orphanet epidemiological data:

56
gm2 gangliosidosis, ab variant
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
gm2-gangliosidosis, ab variant:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 272750
Disease Ontology 12 DOID:4795
MeSH 42 D049290
SNOMED-CT 64 71253000
Orphanet 56 ORPHA309246
ICD10 via Orphanet 34 E75.0
MedGen 40 C0268275
UMLS 69 C0268275

Summaries for Gm2-Gangliosidosis, Ab Variant

OMIM : 54 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 seizures, muscular hypotonia and global developmental delay. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator). The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord.

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 : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 gm2-gangliosidosis, b, b1, ab variant 12.0
2 tay-sachs disease 11.0
3 metachromatic leukodystrophy 9.6
4 leukodystrophy 9.6

Symptoms & Phenotypes for Gm2-Gangliosidosis, Ab Variant

Symptoms by clinical synopsis from OMIM:

272750

Clinical features from OMIM:

272750

Human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 blindness 32 HP:0000618
5 hypertonia 32 HP:0001276
6 paralysis 32 HP:0003470
7 dementia 32 HP:0000726
8 aspiration 32 HP:0002835
9 apathy 32 HP:0000741
10 poor head control 32 HP:0002421
11 exaggerated startle response 32 HP:0002267
12 gm2-ganglioside accumulation 32 HP:0003495

UMLS symptoms related to Gm2-Gangliosidosis, Ab Variant:


hyperacusis, seizures, abnormal pyramidal signs

Drugs & Therapeutics for Gm2-Gangliosidosis, Ab Variant

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 2 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 2 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 2
4 Hypoglycemic Agents Phase 2
5 Anti-HIV Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Anti-Retroviral Agents Phase 2
8 Antiviral Agents Phase 2
9 Cardiac Glycosides Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2
2 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647

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

Genetic tests related to Gm2-Gangliosidosis, Ab Variant:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease, Variant Ab 29
2 Gm2 Activator Deficiency 24 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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

39
Brain, Spinal Cord

Publications for Gm2-Gangliosidosis, Ab Variant

Articles related to Gm2-Gangliosidosis, Ab Variant:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 GM2A p.Cys138Arg VAR_006947 rs137852797
2 GM2A p.Arg169Pro VAR_011698 rs104893892

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GM2A GM2A, 3-BP DEL, 262AAG deletion Pathogenic
2 GM2A GM2A, 1-BP DEL, 410A deletion Pathogenic
3 GM2A NM_000405.4(GM2A): c.412T> C (p.Cys138Arg) single nucleotide variant Pathogenic rs137852797 GRCh37 Chromosome 5, 150646460: 150646460
4 GM2A NM_000405.4(GM2A): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893892 GRCh37 Chromosome 5, 150646936: 150646936
5 GM2A NM_000405.4(GM2A): c.160G> T (p.Glu54Ter) single nucleotide variant Pathogenic rs104893897 GRCh37 Chromosome 5, 150639394: 150639394
6 GM2A NM_000405.4(GM2A): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic/Likely pathogenic rs730882196 GRCh38 Chromosome 5, 151259837: 151259837
7 GM2A NM_000405.4(GM2A): c.244-2A> T single nucleotide variant Likely pathogenic rs1057519022 GRCh38 Chromosome 5, 151266729: 151266729
8 GM2A NM_000405.4(GM2A): c.472G> T (p.Glu158Ter) single nucleotide variant Likely pathogenic rs1057519021 GRCh38 Chromosome 5, 151267341: 151267341

Expression for Gm2-Gangliosidosis, Ab Variant

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

Pathways for Gm2-Gangliosidosis, Ab Variant

GO Terms for Gm2-Gangliosidosis, Ab Variant

Sources for Gm2-Gangliosidosis, Ab Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....