MCID: GM2005
MIFTS: 38

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 57 25 13
Hexosaminidase Activator Deficiency 57 25 59 75
Tay-Sachs Disease, Ab Variant 57 25 44 73
Tay-Sachs Disease, Variant Ab 12 29 6
Tay-Sachs Disease Ab Variant 12 75 15
Gm2 Activator Deficiency 57 75
Activator Deficiency/gm2 Gangliosidosis 25
Activator-Deficient Tay-Sachs Disease 25
Gm2 Activator Deficiency Disease 25
Gm2 Gangliosidosis, Ab Variant 59
Gm2-Gangliosidosis, Variant Ab 40
Ab Variant Gm2-Gangliosidosis 57
Gm2-Gangliosidosis Ab Variant 75
Gangliosidosis Gm2 Ab Variant 55
Gm2 Gangliosidosis, Type Ab 25
Gm2-Gangliosidosis Ab 75
Ab Variant 25
Gm2gab 75

Characteristics:

Orphanet epidemiological data:

59
gm2 gangliosidosis, ab variant
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or childhood


HPO:

32
gm2-gangliosidosis, ab variant:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gm2-Gangliosidosis, Ab Variant

OMIM : 57 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 hyperacusis, seizures and abnormal pyramidal 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, and related phenotypes are seizures and hyperreflexia

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 : 75 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.

Wikipedia : 76 GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive... more...

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 2, show less)
# Related Disease Score Top Affiliating Genes
1 tay-sachs disease 11.3
2 gm2-gangliosidosis, b, b1, ab variant 11.3

Symptoms & Phenotypes for Gm2-Gangliosidosis, Ab Variant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hyperreflexia
chorea
dystonia
neurodegeneration
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:

59 32 (showing 38, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
5 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
8 cherry red spot of the macula 59 32 frequent (33%) Frequent (79-30%) HP:0010729
9 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
10 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
11 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
12 neurodegeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002180
13 hyperacusis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010780
14 progressive spastic quadriplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002478
15 cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002059
16 exaggerated startle response 59 32 hallmark (90%) Very frequent (99-80%) HP:0002267
17 pseudobulbar signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002200
18 inappropriate behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000719
19 loss of speech 59 32 frequent (33%) Frequent (79-30%) HP:0002371
20 abnormal involuntary eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0012547
21 glabellar reflex 59 32 frequent (33%) Frequent (79-30%) HP:0030904
22 primitive reflex 59 32 Frequent (79-30%) HP:0002476
23 punctate periventricular t2 hyperintense foci 59 32 occasional (7.5%) Occasional (29-5%) HP:0030081
24 infantile axial hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009062
25 muscular hypotonia 32 HP:0001252
26 global developmental delay 32 HP:0001263
27 blindness 32 HP:0000618
28 hypertonia 32 HP:0001276
29 paralysis 32 HP:0003470
30 dementia 32 HP:0000726
31 aspiration 32 HP:0002835
32 spastic tetraparesis 32 HP:0001285
33 apathy 32 HP:0000741
34 generalized hypotonia 32 HP:0001290
35 poor head control 32 HP:0002421
36 muscular hypotonia of the trunk 32 HP:0008936
37 abnormal fear/anxiety-related behavior 59 Very frequent (99-80%)
38 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)
# 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 Active, not 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 29 GM2A

Anatomical Context for Gm2-Gangliosidosis, Ab Variant

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

41
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:

75 (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 136, show less)
# 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.412T> C (p.Cys138Arg) single nucleotide variant Pathogenic rs137852797 GRCh38 Chromosome 5, 151266899: 151266899
3 GM2A NM_000405.4(GM2A): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893892 GRCh37 Chromosome 5, 150646936: 150646936
4 GM2A NM_000405.4(GM2A): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893892 GRCh38 Chromosome 5, 151267375: 151267375
5 GM2A GM2A, 3-BP DEL, 262AAG deletion Pathogenic
6 GM2A GM2A, 1-BP DEL, 410A deletion Pathogenic
7 GM2A NM_000405.4(GM2A): c.160G> T (p.Glu54Ter) single nucleotide variant Pathogenic rs104893897 GRCh37 Chromosome 5, 150639394: 150639394
8 GM2A NM_000405.4(GM2A): c.160G> T (p.Glu54Ter) single nucleotide variant Pathogenic rs104893897 GRCh38 Chromosome 5, 151259833: 151259833
9 GM2A NM_000405.4(GM2A): c.175A> G (p.Ile59Val) single nucleotide variant Benign rs153477 GRCh37 Chromosome 5, 150639409: 150639409
10 GM2A NM_000405.4(GM2A): c.175A> G (p.Ile59Val) single nucleotide variant Benign rs153477 GRCh38 Chromosome 5, 151259848: 151259848
11 GM2A NM_000405.4(GM2A): c.205A> G (p.Met69Val) single nucleotide variant Benign rs153478 GRCh37 Chromosome 5, 150639439: 150639439
12 GM2A NM_000405.4(GM2A): c.205A> G (p.Met69Val) single nucleotide variant Benign rs153478 GRCh38 Chromosome 5, 151259878: 151259878
13 GM2A NM_000405.4(GM2A): c.582A> G (p.Ter194=) single nucleotide variant Benign rs1048723 GRCh37 Chromosome 5, 150647012: 150647012
14 GM2A NM_000405.4(GM2A): c.582A> G (p.Ter194=) single nucleotide variant Benign rs1048723 GRCh38 Chromosome 5, 151267451: 151267451
15 GM2A NM_000405.4(GM2A): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic/Likely pathogenic rs730882196 GRCh38 Chromosome 5, 151259837: 151259837
16 GM2A NM_000405.4(GM2A): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic/Likely pathogenic rs730882196 GRCh37 Chromosome 5, 150639398: 150639398
17 GM2A NM_000405.4(GM2A): c.55G> A (p.Ala19Thr) single nucleotide variant Benign/Likely benign rs1048719 GRCh38 Chromosome 5, 151253271: 151253271
18 GM2A NM_000405.4(GM2A): c.55G> A (p.Ala19Thr) single nucleotide variant Benign/Likely benign rs1048719 GRCh37 Chromosome 5, 150632832: 150632832
19 GM2A NM_000405.4(GM2A): c.*28C> T single nucleotide variant Benign rs9324685 GRCh38 Chromosome 5, 151267479: 151267479
20 GM2A NM_000405.4(GM2A): c.*28C> T single nucleotide variant Benign rs9324685 GRCh37 Chromosome 5, 150647040: 150647040
21 GM2A NM_000405.4(GM2A): c.78A> T (p.Lys26Asn) single nucleotide variant Uncertain significance rs28365994 GRCh38 Chromosome 5, 151253294: 151253294
22 GM2A NM_000405.4(GM2A): c.78A> T (p.Lys26Asn) single nucleotide variant Uncertain significance rs28365994 GRCh37 Chromosome 5, 150632855: 150632855
23 GM2A NM_000405.4(GM2A): c.*245G> A single nucleotide variant Uncertain significance rs542291291 GRCh37 Chromosome 5, 150647257: 150647257
24 GM2A NM_000405.4(GM2A): c.*245G> A single nucleotide variant Uncertain significance rs542291291 GRCh38 Chromosome 5, 151267696: 151267696
25 GM2A NM_000405.4(GM2A): c.*536G> T single nucleotide variant Likely benign rs151210034 GRCh37 Chromosome 5, 150647548: 150647548
26 GM2A NM_000405.4(GM2A): c.*536G> T single nucleotide variant Likely benign rs151210034 GRCh38 Chromosome 5, 151267987: 151267987
27 GM2A NM_000405.4(GM2A): c.*568G> A single nucleotide variant Uncertain significance rs886060271 GRCh37 Chromosome 5, 150647580: 150647580
28 GM2A NM_000405.4(GM2A): c.*568G> A single nucleotide variant Uncertain significance rs886060271 GRCh38 Chromosome 5, 151268019: 151268019
29 GM2A NM_000405.4(GM2A): c.*723dupT duplication Benign rs397884529 GRCh37 Chromosome 5, 150647735: 150647735
30 GM2A NM_000405.4(GM2A): c.*723dupT duplication Benign rs397884529 GRCh38 Chromosome 5, 151268174: 151268174
31 GM2A NM_000405.4(GM2A): c.*824C> A single nucleotide variant Uncertain significance rs186626408 GRCh37 Chromosome 5, 150647836: 150647836
32 GM2A NM_000405.4(GM2A): c.*824C> A single nucleotide variant Uncertain significance rs186626408 GRCh38 Chromosome 5, 151268275: 151268275
33 GM2A NM_000405.4(GM2A): c.*938G> A single nucleotide variant Benign rs1130163 GRCh37 Chromosome 5, 150647950: 150647950
34 GM2A NM_000405.4(GM2A): c.*938G> A single nucleotide variant Benign rs1130163 GRCh38 Chromosome 5, 151268389: 151268389
35 GM2A NM_000405.4(GM2A): c.*944T> C single nucleotide variant Benign rs149174 GRCh37 Chromosome 5, 150647956: 150647956
36 GM2A NM_000405.4(GM2A): c.*944T> C single nucleotide variant Benign rs149174 GRCh38 Chromosome 5, 151268395: 151268395
37 GM2A NM_000405.4(GM2A): c.*1274dupC duplication Benign rs397716595 GRCh37 Chromosome 5, 150648286: 150648286
38 GM2A NM_000405.4(GM2A): c.*1274dupC duplication Benign rs397716595 GRCh38 Chromosome 5, 151268725: 151268725
39 GM2A NM_000405.4(GM2A): c.*1410A> C single nucleotide variant Uncertain significance rs181014044 GRCh37 Chromosome 5, 150648422: 150648422
40 GM2A NM_000405.4(GM2A): c.*1410A> C single nucleotide variant Uncertain significance rs181014044 GRCh38 Chromosome 5, 151268861: 151268861
41 GM2A NM_000405.4(GM2A): c.*2113G> A single nucleotide variant Uncertain significance rs886060275 GRCh37 Chromosome 5, 150649125: 150649125
42 GM2A NM_000405.4(GM2A): c.*2113G> A single nucleotide variant Uncertain significance rs886060275 GRCh38 Chromosome 5, 151269564: 151269564
43 GM2A NM_000405.4(GM2A): c.*2550C> T single nucleotide variant Uncertain significance rs886060277 GRCh38 Chromosome 5, 151270001: 151270001
44 GM2A NM_000405.4(GM2A): c.*2550C> T single nucleotide variant Uncertain significance rs886060277 GRCh37 Chromosome 5, 150649562: 150649562
45 GM2A NM_000405.4(GM2A): c.*2849G> A single nucleotide variant Benign rs10076053 GRCh37 Chromosome 5, 150649861: 150649861
46 GM2A NM_000405.4(GM2A): c.*2849G> A single nucleotide variant Benign rs10076053 GRCh38 Chromosome 5, 151270300: 151270300
47 GM2A NM_000405.4(GM2A): c.-44G> A single nucleotide variant Likely benign rs144932594 GRCh38 Chromosome 5, 151253173: 151253173
48 GM2A NM_000405.4(GM2A): c.-44G> A single nucleotide variant Likely benign rs144932594 GRCh37 Chromosome 5, 150632734: 150632734
49 GM2A NM_000405.4(GM2A): c.126G> A (p.Gly42=) single nucleotide variant Uncertain significance rs113271740 GRCh38 Chromosome 5, 151259799: 151259799
50 GM2A NM_000405.4(GM2A): c.126G> A (p.Gly42=) single nucleotide variant Uncertain significance rs113271740 GRCh37 Chromosome 5, 150639360: 150639360
51 GM2A NM_000405.4(GM2A): c.254T> G (p.Val85Gly) single nucleotide variant Uncertain significance rs143999954 GRCh38 Chromosome 5, 151266741: 151266741
52 GM2A NM_000405.4(GM2A): c.254T> G (p.Val85Gly) single nucleotide variant Uncertain significance rs143999954 GRCh37 Chromosome 5, 150646302: 150646302
53 GM2A NM_000405.4(GM2A): c.458T> C (p.Val153Ala) single nucleotide variant Likely benign rs61740602 GRCh38 Chromosome 5, 151267327: 151267327
54 GM2A NM_000405.4(GM2A): c.458T> C (p.Val153Ala) single nucleotide variant Likely benign rs61740602 GRCh37 Chromosome 5, 150646888: 150646888
55 GM2A NM_000405.4(GM2A): c.*241C> T single nucleotide variant Uncertain significance rs377505668 GRCh37 Chromosome 5, 150647253: 150647253
56 GM2A NM_000405.4(GM2A): c.*241C> T single nucleotide variant Uncertain significance rs377505668 GRCh38 Chromosome 5, 151267692: 151267692
57 GM2A NM_000405.4(GM2A): c.*356C> A single nucleotide variant Uncertain significance rs189626755 GRCh37 Chromosome 5, 150647368: 150647368
58 GM2A NM_000405.4(GM2A): c.*356C> A single nucleotide variant Uncertain significance rs189626755 GRCh38 Chromosome 5, 151267807: 151267807
59 GM2A NM_000405.4(GM2A): c.*376delT deletion Benign rs397712620 GRCh38 Chromosome 5, 151267827: 151267827
60 GM2A NM_000405.4(GM2A): c.*376delT deletion Benign rs397712620 GRCh37 Chromosome 5, 150647388: 150647388
61 GM2A NM_000405.4(GM2A): c.*401G> A single nucleotide variant Likely benign rs116809628 GRCh37 Chromosome 5, 150647413: 150647413
62 GM2A NM_000405.4(GM2A): c.*401G> A single nucleotide variant Likely benign rs116809628 GRCh38 Chromosome 5, 151267852: 151267852
63 GM2A NM_000405.4(GM2A): c.*704T> A single nucleotide variant Uncertain significance rs569818818 GRCh37 Chromosome 5, 150647716: 150647716
64 GM2A NM_000405.4(GM2A): c.*704T> A single nucleotide variant Uncertain significance rs569818818 GRCh38 Chromosome 5, 151268155: 151268155
65 GM2A NM_000405.4(GM2A): c.*2141C> T single nucleotide variant Benign rs153449 GRCh37 Chromosome 5, 150649153: 150649153
66 GM2A NM_000405.4(GM2A): c.*2141C> T single nucleotide variant Benign rs153449 GRCh38 Chromosome 5, 151269592: 151269592
67 GM2A NM_000405.4(GM2A): c.*2479C> T single nucleotide variant Uncertain significance rs886060276 GRCh37 Chromosome 5, 150649491: 150649491
68 GM2A NM_000405.4(GM2A): c.*2479C> T single nucleotide variant Uncertain significance rs886060276 GRCh38 Chromosome 5, 151269930: 151269930
69 GM2A NM_000405.4(GM2A): c.*2529G> A single nucleotide variant Uncertain significance rs747946670 GRCh38 Chromosome 5, 151269980: 151269980
70 GM2A NM_000405.4(GM2A): c.*2529G> A single nucleotide variant Uncertain significance rs747946670 GRCh37 Chromosome 5, 150649541: 150649541
71 GM2A NM_000405.4(GM2A): c.*2624C> T single nucleotide variant Uncertain significance rs886060278 GRCh38 Chromosome 5, 151270075: 151270075
72 GM2A NM_000405.4(GM2A): c.*2624C> T single nucleotide variant Uncertain significance rs886060278 GRCh37 Chromosome 5, 150649636: 150649636
73 GM2A NM_000405.4(GM2A): c.*2695G> A single nucleotide variant Uncertain significance rs770518416 GRCh38 Chromosome 5, 151270146: 151270146
74 GM2A NM_000405.4(GM2A): c.*2695G> A single nucleotide variant Uncertain significance rs770518416 GRCh37 Chromosome 5, 150649707: 150649707
75 GM2A NM_000405.4(GM2A): c.*2717_*2720delAAAT deletion Benign rs35384604 GRCh38 Chromosome 5, 151270168: 151270171
76 GM2A NM_000405.4(GM2A): c.*2717_*2720delAAAT deletion Benign rs35384604 GRCh37 Chromosome 5, 150649729: 150649732
77 GM2A NM_000405.4(GM2A): c.-7C> G single nucleotide variant Uncertain significance rs371628812 GRCh38 Chromosome 5, 151253210: 151253210
78 GM2A NM_000405.4(GM2A): c.-7C> G single nucleotide variant Uncertain significance rs371628812 GRCh37 Chromosome 5, 150632771: 150632771
79 GM2A NM_000405.4(GM2A): c.*226C> T single nucleotide variant Uncertain significance rs537947985 GRCh37 Chromosome 5, 150647238: 150647238
80 GM2A NM_000405.4(GM2A): c.*226C> T single nucleotide variant Uncertain significance rs537947985 GRCh38 Chromosome 5, 151267677: 151267677
81 GM2A NM_000405.4(GM2A): c.*868T> C single nucleotide variant Uncertain significance rs886060272 GRCh38 Chromosome 5, 151268319: 151268319
82 GM2A NM_000405.4(GM2A): c.*868T> C single nucleotide variant Uncertain significance rs886060272 GRCh37 Chromosome 5, 150647880: 150647880
83 GM2A NM_000405.4(GM2A): c.*1239dupA duplication Benign rs397883774 GRCh37 Chromosome 5, 150648251: 150648251
84 GM2A NM_000405.4(GM2A): c.*1239dupA duplication Benign rs397883774 GRCh38 Chromosome 5, 151268690: 151268690
85 GM2A NM_000405.4(GM2A): c.*1241T> C single nucleotide variant Uncertain significance rs541818620 GRCh37 Chromosome 5, 150648253: 150648253
86 GM2A NM_000405.4(GM2A): c.*1241T> C single nucleotide variant Uncertain significance rs541818620 GRCh38 Chromosome 5, 151268692: 151268692
87 GM2A NM_000405.4(GM2A): c.*1445G> A single nucleotide variant Benign rs153450 GRCh37 Chromosome 5, 150648457: 150648457
88 GM2A NM_000405.4(GM2A): c.*1445G> A single nucleotide variant Benign rs153450 GRCh38 Chromosome 5, 151268896: 151268896
89 GM2A NM_000405.4(GM2A): c.*1899G> C single nucleotide variant Uncertain significance rs886060274 GRCh37 Chromosome 5, 150648911: 150648911
90 GM2A NM_000405.4(GM2A): c.*1899G> C single nucleotide variant Uncertain significance rs886060274 GRCh38 Chromosome 5, 151269350: 151269350
91 GM2A NM_000405.4(GM2A): c.*2430T> C single nucleotide variant Likely benign rs3734041 GRCh37 Chromosome 5, 150649442: 150649442
92 GM2A NM_000405.4(GM2A): c.*2430T> C single nucleotide variant Likely benign rs3734041 GRCh38 Chromosome 5, 151269881: 151269881
93 GM2A NM_000405.4(GM2A): c.*2519G> A single nucleotide variant Uncertain significance rs138240164 GRCh37 Chromosome 5, 150649531: 150649531
94 GM2A NM_000405.4(GM2A): c.*2519G> A single nucleotide variant Uncertain significance rs138240164 GRCh38 Chromosome 5, 151269970: 151269970
95 GM2A NM_000405.4(GM2A): c.*2767C> T single nucleotide variant Likely benign rs117832237 GRCh37 Chromosome 5, 150649779: 150649779
96 GM2A NM_000405.4(GM2A): c.*2767C> T single nucleotide variant Likely benign rs117832237 GRCh38 Chromosome 5, 151270218: 151270218
97 GM2A NM_000405.4(GM2A): c.-102A> G single nucleotide variant Benign rs2277028 GRCh37 Chromosome 5, 150632676: 150632676
98 GM2A NM_000405.4(GM2A): c.-102A> G single nucleotide variant Benign rs2277028 GRCh38 Chromosome 5, 151253115: 151253115
99 GM2A NM_000405.4(GM2A): c.*144T> C single nucleotide variant Benign rs9324686 GRCh37 Chromosome 5, 150647156: 150647156
100 GM2A NM_000405.4(GM2A): c.*144T> C single nucleotide variant Benign rs9324686 GRCh38 Chromosome 5, 151267595: 151267595
101 GM2A NM_000405.4(GM2A): c.*188A> T single nucleotide variant Uncertain significance rs886060269 GRCh37 Chromosome 5, 150647200: 150647200
102 GM2A NM_000405.4(GM2A): c.*188A> T single nucleotide variant Uncertain significance rs886060269 GRCh38 Chromosome 5, 151267639: 151267639
103 GM2A NM_000405.4(GM2A): c.*227A> G single nucleotide variant Benign rs989 GRCh37 Chromosome 5, 150647239: 150647239
104 GM2A NM_000405.4(GM2A): c.*227A> G single nucleotide variant Benign rs989 GRCh38 Chromosome 5, 151267678: 151267678
105 GM2A NM_000405.4(GM2A): c.*255C> T single nucleotide variant Uncertain significance rs75026189 GRCh37 Chromosome 5, 150647267: 150647267
106 GM2A NM_000405.4(GM2A): c.*255C> T single nucleotide variant Uncertain significance rs75026189 GRCh38 Chromosome 5, 151267706: 151267706
107 GM2A NM_000405.4(GM2A): c.*274A> G single nucleotide variant Uncertain significance rs886060270 GRCh37 Chromosome 5, 150647286: 150647286
108 GM2A NM_000405.4(GM2A): c.*274A> G single nucleotide variant Uncertain significance rs886060270 GRCh38 Chromosome 5, 151267725: 151267725
109 GM2A NM_000405.4(GM2A): c.*426C> T single nucleotide variant Uncertain significance rs370699960 GRCh37 Chromosome 5, 150647438: 150647438
110 GM2A NM_000405.4(GM2A): c.*426C> T single nucleotide variant Uncertain significance rs370699960 GRCh38 Chromosome 5, 151267877: 151267877
111 GM2A NM_000405.4(GM2A): c.*722_*723dupTT duplication Uncertain significance rs397884529 GRCh37 Chromosome 5, 150647734: 150647735
112 GM2A NM_000405.4(GM2A): c.*722_*723dupTT duplication Uncertain significance rs397884529 GRCh38 Chromosome 5, 151268173: 151268174
113 GM2A NM_000405.4(GM2A): c.*860C> T single nucleotide variant Uncertain significance rs368971605 GRCh38 Chromosome 5, 151268311: 151268311
114 GM2A NM_000405.4(GM2A): c.*860C> T single nucleotide variant Uncertain significance rs368971605 GRCh37 Chromosome 5, 150647872: 150647872
115 GM2A NM_000405.4(GM2A): c.*1246A> G single nucleotide variant Uncertain significance rs760209124 GRCh38 Chromosome 5, 151268697: 151268697
116 GM2A NM_000405.4(GM2A): c.*1246A> G single nucleotide variant Uncertain significance rs760209124 GRCh37 Chromosome 5, 150648258: 150648258
117 GM2A NM_000405.4(GM2A): c.*1362G> C single nucleotide variant Uncertain significance rs886060273 GRCh37 Chromosome 5, 150648374: 150648374
118 GM2A NM_000405.4(GM2A): c.*1362G> C single nucleotide variant Uncertain significance rs886060273 GRCh38 Chromosome 5, 151268813: 151268813
119 GM2A NM_000405.4(GM2A): c.*1695C> A single nucleotide variant Likely benign rs115956086 GRCh37 Chromosome 5, 150648707: 150648707
120 GM2A NM_000405.4(GM2A): c.*1695C> A single nucleotide variant Likely benign rs115956086 GRCh38 Chromosome 5, 151269146: 151269146
121 GM2A NM_000405.4(GM2A): c.*1829C> T single nucleotide variant Likely benign rs3806952 GRCh37 Chromosome 5, 150648841: 150648841
122 GM2A NM_000405.4(GM2A): c.*1829C> T single nucleotide variant Likely benign rs3806952 GRCh38 Chromosome 5, 151269280: 151269280
123 GM2A NM_000405.4(GM2A): c.*1866C> T single nucleotide variant Benign rs3806953 GRCh37 Chromosome 5, 150648878: 150648878
124 GM2A NM_000405.4(GM2A): c.*1866C> T single nucleotide variant Benign rs3806953 GRCh38 Chromosome 5, 151269317: 151269317
125 GM2A NM_000405.4(GM2A): c.*1994A> G single nucleotide variant Benign rs12516391 GRCh37 Chromosome 5, 150649006: 150649006
126 GM2A NM_000405.4(GM2A): c.*1994A> G single nucleotide variant Benign rs12516391 GRCh38 Chromosome 5, 151269445: 151269445
127 GM2A NM_000405.4(GM2A): c.*2643G> T single nucleotide variant Uncertain significance rs114108271 GRCh38 Chromosome 5, 151270094: 151270094
128 GM2A NM_000405.4(GM2A): c.*2643G> T single nucleotide variant Uncertain significance rs114108271 GRCh37 Chromosome 5, 150649655: 150649655
129 GM2A NM_000405.4(GM2A): c.*2801A> G single nucleotide variant Likely benign rs111935946 GRCh37 Chromosome 5, 150649813: 150649813
130 GM2A NM_000405.4(GM2A): c.*2801A> G single nucleotide variant Likely benign rs111935946 GRCh38 Chromosome 5, 151270252: 151270252
131 GM2A NM_000405.4(GM2A): c.244-2A> T single nucleotide variant Likely pathogenic rs1057519022 GRCh38 Chromosome 5, 151266729: 151266729
132 GM2A NM_000405.4(GM2A): c.244-2A> T single nucleotide variant Likely pathogenic rs1057519022 GRCh37 Chromosome 5, 150646290: 150646290
133 GM2A NM_000405.4(GM2A): c.472G> T (p.Glu158Ter) single nucleotide variant Likely pathogenic rs1057519021 GRCh38 Chromosome 5, 151267341: 151267341
134 GM2A NM_000405.4(GM2A): c.472G> T (p.Glu158Ter) single nucleotide variant Likely pathogenic rs1057519021 GRCh37 Chromosome 5, 150646902: 150646902
135 GM2A NC_000005.10: g.(?_151253197)_(151267660_?)del deletion Pathogenic GRCh38 Chromosome 5, 151253197: 151267660
136 GM2A NC_000005.10: g.(?_151253197)_(151267660_?)del deletion Pathogenic GRCh37 Chromosome 5, 150632758: 150647221

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 OGA

Sources for Gm2-Gangliosidosis, Ab Variant

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