MCID: GM2005
MIFTS: 36

Gm2-Gangliosidosis, Ab Variant

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

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

MalaCards integrated aliases for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 54 25 13
Tay-Sachs Disease, Ab Variant 24 25 42 69
Hexosaminidase Activator Deficiency 25 56 71
Gm2 Gangliosidosis, Ab Variant 24 56
Tay-Sachs Disease, Variant Ab 12 29
Tay-Sachs Disease Ab Variant 12 71
Gm2 Activator Deficiency 24 71
Activator Deficiency/gm2 Gangliosidosis 25
Activator-Deficient Tay-Sachs Disease 25
Gm2 Activator Deficiency Disease 25
Gm2-Gangliosidosis Ab Variant 71
Gangliosidosis Gm2 Ab Variant 52
Gm2 Gangliosidosis, Type Ab 25
Gm2-Gangliosidosis Ab 71
Ab Variant 25
Gm2gab 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or childhood


HPO:

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


Classifications:



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 glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869) and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001). (272750)

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 poor head control, seizures and hypertonia. 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, spinal cord and eye.

UniProtKB/Swiss-Prot : 71 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 : 25 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

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:

(showing 4, show less)
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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
dystonia
chorea
spastic quadriparesis
hyperreflexia
more
Head And Neck- Eyes:
roving eye movements
cherry-red macular spots (in most patients)

Muscle Soft Tissue:
axial hypotonia

Laboratory- Abnormalities:
gm2-ganglioside accumulation in tissues


Clinical features from OMIM:

272750

Human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

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

(showing 9, show less)
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 Anti-HIV Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Anti-Retroviral Agents Phase 2
6 Antiviral Agents Phase 2
7 Cardiac Glycosides Phase 2
8 Glycoside Hydrolase Inhibitors Phase 2
9 Hypoglycemic Agents Phase 2

Interventional clinical trials:

(showing 2, show less)

id Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2 miglustat
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, Eye

Publications for Gm2-Gangliosidosis, Ab Variant

Articles related to Gm2-Gangliosidosis, Ab Variant:

(showing 4, show less)
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:

71 (showing 2, show less)
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 (showing 8, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 GM2A NM_000405.4(GM2A): c.412T> C (p.Cys138Arg) single nucleotide variant Pathogenic rs137852797 GRCh37 Chromosome 5, 150646460: 150646460
2 GM2A NM_000405.4(GM2A): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893892 GRCh37 Chromosome 5, 150646936: 150646936
3 GM2A GM2A, 3-BP DEL, 262AAG deletion Pathogenic
4 GM2A GM2A, 1-BP DEL, 410A deletion Pathogenic
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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