MCID: GM2005
MIFTS: 39

Gm2-Gangliosidosis, Ab Variant

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

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

MalaCards integrated aliases for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 53 24 13
Hexosaminidase Activator Deficiency 53 24 55 71
Tay-Sachs Disease, Ab Variant 53 24 41 69
Tay-Sachs Disease Ab Variant 12 71 14
Tay-Sachs Disease, Variant Ab 12 28
Gm2 Activator Deficiency 53 71
Activator Deficiency/gm2 Gangliosidosis 24
Activator-Deficient Tay-Sachs Disease 24
Gm2 Activator Deficiency Disease 24
Gm2 Gangliosidosis, Ab Variant 55
Ab Variant Gm2-Gangliosidosis 53
Gm2-Gangliosidosis Ab Variant 71
Gangliosidosis Gm2 Ab Variant 51
Gm2 Gangliosidosis, Type Ab 24
Gm2-Gangliosidosis Ab 71
Ab Variant 24
Gm2gab 71

Characteristics:

Orphanet epidemiological data:

55
gm2 gangliosidosis, ab variant
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or childhood


HPO:

31
gm2-gangliosidosis, ab variant:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gm2-Gangliosidosis, Ab Variant

OMIM : 53 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 hexosaminidase activator deficiency, is related to tay-sachs disease and gm2-gangliosidosis, b, b1, ab variant, and has symptoms including seizures, dystonia and pseudobulbar signs. 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.

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.

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.

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 5, show less)
# Related Disease Score Top Affiliating Genes
1 tay-sachs disease 31.0 GM2A MGEA5
2 gm2-gangliosidosis, b, b1, ab variant 11.3
3 gangliosidosis gm2 9.6 GM2A MGEA5
4 sandhoff disease 9.6 GM2A MGEA5
5 mucolipidosis iv 9.5 GM2A MGEA5

Graphical network of the top 20 diseases related to Gm2-Gangliosidosis, Ab Variant:



Diseases related to Gm2-Gangliosidosis, Ab Variant

Symptoms & Phenotypes for Gm2-Gangliosidosis, Ab Variant

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
dystonia
hyperacusis
hyperreflexia
chorea
more
Muscle Soft Tissue:
axial hypotonia

Head And Neck Eyes:
roving eye movements
cherry-red macular spots (in most patients)

Laboratory Abnormalities:
gm2-ganglioside accumulation in tissues


Clinical features from OMIM:

272750

Human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

55 31 (showing 36, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 dystonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001332
3 pseudobulbar signs 55 31 occasional (7.5%) Occasional (29-5%) HP:0002200
4 hyperacusis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010780
5 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
6 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
7 chorea 55 31 frequent (33%) Frequent (79-30%) HP:0002072
8 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
11 cherry red spot of the macula 55 31 frequent (33%) Frequent (79-30%) HP:0010729
12 postnatal growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0008897
13 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
14 neurodegeneration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002180
15 progressive spastic quadriplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002478
16 cerebral atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002059
17 exaggerated startle response 55 31 hallmark (90%) Very frequent (99-80%) HP:0002267
18 inappropriate behavior 55 31 frequent (33%) Frequent (79-30%) HP:0000719
19 loss of speech 55 31 frequent (33%) Frequent (79-30%) HP:0002371
20 abnormal involuntary eye movements 55 31 frequent (33%) Frequent (79-30%) HP:0012547
21 infantile axial hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0009062
22 primitive reflex 55 31 Frequent (79-30%) HP:0002476
23 glabellar reflex 55 31 frequent (33%) Frequent (79-30%) HP:0030904
24 punctate periventricular t2 hyperintense foci 55 31 occasional (7.5%) Occasional (29-5%) HP:0030081
25 global developmental delay 31 HP:0001263
26 blindness 31 HP:0000618
27 paralysis 31 HP:0003470
28 dementia 31 HP:0000726
29 aspiration 31 HP:0002835
30 spastic tetraparesis 31 HP:0001285
31 apathy 31 HP:0000741
32 generalized hypotonia 31 HP:0001290
33 poor head control 31 HP:0002421
34 muscular hypotonia of the trunk 31 HP:0008936
35 abnormal fear/anxiety-related behavior 55 Very frequent (99-80%)
36 gm2-ganglioside accumulation 31 HP:0003495

UMLS symptoms related to Gm2-Gangliosidosis, Ab Variant:


abnormal pyramidal signs, seizures, hyperacusis

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)
# 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)

# 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:

# Genetic test Affiliating Genes
1 Tay-Sachs Disease, Variant Ab 28 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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

38
Brain, Spinal Cord, Eye

Publications for Gm2-Gangliosidosis, Ab Variant

Articles related to Gm2-Gangliosidosis, Ab Variant:

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

Molecular functions related to Gm2-Gangliosidosis, Ab Variant according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 GM2A MGEA5

Sources for Gm2-Gangliosidosis, Ab Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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