GM2GAB
MCID: GM2005
MIFTS: 53

Gm2-Gangliosidosis, Ab Variant (GM2GAB)

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

Aliases & Classifications for Gm2-Gangliosidosis, Ab Variant

MalaCards integrated aliases for Gm2-Gangliosidosis, Ab Variant:

Name: Gm2-Gangliosidosis, Ab Variant 57 43 13
Hexosaminidase Activator Deficiency 57 43 58 72
Tay-Sachs Disease, Ab Variant 57 43 44 70
Gm2 Gangliosidosis, Ab Variant 12 58 15
Tay-Sachs Disease, Variant Ab 12 29 6
Tay-Sachs Disease Ab Variant 12 72
Gm2 Activator Deficiency 57 72
Activator Deficiency/gm2 Gangliosidosis 43
Activator-Deficient Tay-Sachs Disease 43
Gm2 Activator Deficiency Disease 43
Gm2-Gangliosidosis, Variant Ab 39
Ab Variant Gm2-Gangliosidosis 57
Gm2-Gangliosidosis Ab Variant 72
Gangliosidosis Gm2 Ab Variant 54
Gm2 Gangliosidosis, Type Ab 43
Gm2-Gangliosidosis Ab 72
Ab Variant 43
Gm2gab 72

Characteristics:

Orphanet epidemiological data:

58
gm2 gangliosidosis, ab variant
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in infancy or childhood


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Gm2-Gangliosidosis, Ab Variant

MedlinePlus Genetics : 43 GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with the AB variant experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with the AB variant usually live only into early childhood.

MalaCards based summary : Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency, is related to gangliosidosis and sandhoff disease, and has symptoms including seizures, hyperacusis and abnormal pyramidal signs. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are hyperreflexia and abnormal pyramidal sign

Disease Ontology : 12 A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gm2 Gangliosidosis Gm1 Gangliosidosis
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:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis 30.8 PSAP HEXB HEXA GM2A GLB1
2 sandhoff disease 29.6 PSAP OGA HEXB HEXA GM2A GLB1
3 metachromatic leukodystrophy 29.6 PSAP HEXA GM2A ASAH1
4 gm2 gangliosidosis 29.1 PSAP OGA NEU3 HEXB HEXA GM2A
5 lipid storage disease 29.0 PSAP GLB1 GBA ASAH1
6 lysosomal storage disease 28.8 PSAP HEXB HEXA GM2A GLB1 GBA
7 tay-sachs disease 28.3 TFEB PSAP OGA NEU4 NEU3 HEXB
8 gm2-gangliosidosis, b, b1, ab variant 11.3
9 hypotonia 10.5
10 gm1-gangliosidosis, type i 10.2 PSAP GLB1
11 3-methylglutaconic aciduria, type iii 10.2
12 pathologic nystagmus 10.2
13 hyperacusis 10.2
14 gm1-gangliosidosis, type iii 10.2 HEXB GLB1
15 mucolipidoses 10.2 HEXA GNPTAB
16 fazio-londe disease 10.2 HEXA ETFA
17 ataxia and polyneuropathy, adult-onset 10.2
18 alacrima, achalasia, and mental retardation syndrome 10.2
19 chorea, childhood-onset, with psychomotor retardation 10.2
20 choreatic disease 10.2
21 hypertonia 10.2
22 gm1-gangliosidosis, type ii 10.2 HEXB GM2A GLB1
23 nephrotic syndrome, type 14 10.1 ETFA ASAH1
24 hurler syndrome 10.0 NEU4 GNPTAB GLB1
25 farber lipogranulomatosis 10.0 PSAP GM2A ASAH1
26 gingival hypertrophy 10.0 GNPTAB GLB1
27 mucolipidosis iv 10.0 TFEB HEXA
28 glycoproteinosis 10.0 PSAP NEU4 NEU3 GLB1
29 galactosialidosis 10.0 PSAP NEU4 NEU3 GLB1
30 diamond-blackfan anemia 20 10.0 TFEB LAMP2
31 nephrolithiasis/osteoporosis, hypophosphatemic, 2 9.9 HEXA GBA
32 mucopolysaccharidosis, type iiib 9.9 TFEB LAMP2
33 progressive myoclonus epilepsy 4 9.9 PSAP GBA
34 mucolipidosis iii alpha/beta 9.9 OGA GNPTAB
35 gaucher disease, type iii 9.8 PSAP GBA
36 mucopolysaccharidosis, type iiia 9.8 TFEB LAMP2 GNPTAB
37 leukodystrophy 9.8
38 spasticity 9.8
39 gaucher disease, type i 9.7 PSAP GBA ASAH1
40 hereditary late-onset parkinson disease 9.7 PSAP GBA
41 mucolipidosis ii alpha/beta 9.7 PSAP OGA LAMP2 GNPTAB GM2A
42 gaucher disease, type ii 9.7 PSAP LAMP2 GBA
43 mucopolysaccharidosis, type ii 9.6 LAMP2 GLB1 GBA
44 fabry disease 9.6 PSAP LAMP2 GBA
45 krabbe disease 9.6 PSAP GLB1 GBA ASAH1
46 c syndrome 9.6 TFEB LAMP2 GBA
47 charcot-marie-tooth disease, axonal, type 2v 9.5 NEU4 GNPTAB GM2A GBA ASAH1
48 niemann-pick disease 9.4 TFEB PSAP GM2A GBA ASAH1
49 gm1 gangliosidosis 9.3 PSAP OGA HEXA GM2A GLB1 GBA
50 mucopolysaccharidosis iii 9.1 TFEB OGA LAMP2 GNPTAB GLB1 GBA

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

Human phenotypes related to Gm2-Gangliosidosis, Ab Variant:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
6 hyperacusis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010780
7 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
8 progressive spastic quadriplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002478
9 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
10 exaggerated startle response 58 31 hallmark (90%) Very frequent (99-80%) HP:0002267
11 infantile axial hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009062
12 neurodegeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002180
13 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
14 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
15 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
16 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
17 loss of speech 58 31 frequent (33%) Frequent (79-30%) HP:0002371
18 inappropriate behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000719
19 abnormal involuntary eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0012547
20 glabellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0030904
21 seizure 31 frequent (33%) HP:0001250
22 pseudobulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002200
23 punctate periventricular t2 hyperintense foci 58 31 occasional (7.5%) Occasional (29-5%) HP:0030081
24 primitive reflex 58 31 Frequent (79-30%) HP:0002476
25 seizures 58 Frequent (79-30%)
26 global developmental delay 31 HP:0001263
27 blindness 31 HP:0000618
28 hypertonia 31 HP:0001276
29 poor head control 31 HP:0002421
30 spastic tetraparesis 31 HP:0001285
31 dementia 31 HP:0000726
32 generalized hypotonia 31 HP:0001290
33 apathy 31 HP:0000741
34 muscular hypotonia of the trunk 31 HP:0008936
35 aspiration 31 HP:0002835
36 paralysis 31 HP:0003470
37 abnormal fear/anxiety-related behavior 58 Very frequent (99-80%)
38 hypotonia 31 HP:0001252
39 gm2-ganglioside accumulation 31 HP:0003495

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
chorea
hyperacusis
dystonia
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 (Updated 05-Apr-2021)

UMLS symptoms related to Gm2-Gangliosidosis, Ab Variant:


seizures; hyperacusis; abnormal pyramidal signs

MGI Mouse Phenotypes related to Gm2-Gangliosidosis, Ab Variant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ASAH1 CD200 CP GBA GLB1 GM2A
2 cellular MP:0005384 10.14 ASAH1 CD200 CP GBA GLB1 GNPTAB
3 growth/size/body region MP:0005378 10.11 ASAH1 GBA GLB1 GNPTAB HEXA HEXB
4 homeostasis/metabolism MP:0005376 10.1 ASAH1 CD200 CP GBA GLB1 GNPTAB
5 nervous system MP:0003631 9.9 ASAH1 CD200 CP GBA GLB1 GM2A
6 liver/biliary system MP:0005370 9.86 ASAH1 CP GBA GLB1 HEXA HEXB
7 reproductive system MP:0005389 9.56 ASAH1 GLB1 GNPTAB HEXA HEXB LAMP2
8 skeleton MP:0005390 9.32 ASAH1 CD200 GBA GLB1 GNPTAB HEXA

Drugs & Therapeutics for Gm2-Gangliosidosis, Ab Variant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
2 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713

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:

40
Eye, Spinal Cord, Brain, Ovary

Publications for Gm2-Gangliosidosis, Ab Variant

Articles related to Gm2-Gangliosidosis, Ab Variant:

(show all 24)
# Title Authors PMID Year
1
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. 6 57
26203402 2015
2
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. 57 6
10364519 1999
3
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis. 57 6
1570834 1992
4
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. 57 6
1915858 1991
5
GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient. 57 61
9932959 1999
6
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. 61 6
8900233 1996
7
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. 6 61
8244332 1993
8
GM2-gangliosidosis, AB variant: clinico-pathological study of a case. 61 6
174379 1975
9
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. 57
9223328 1997
10
The association of nonsense mutation with exon-skipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR. 57
9174100 1997
11
The skipping of constitutive exons in vivo induced by nonsense mutations. 57
8430317 1993
12
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB. 57
6801612 1982
13
Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation. 57
568730 1978
14
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. 57
99746 1978
15
Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. 57
5135907 1971
16
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping. 54 61
7713516 1994
17
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency. 61
28192816 2017
18
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. 61
27402091 2016
19
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. 61
26082327 2016
20
Crystal structure of human GM2-activator protein with a novel beta-cup topology. 54
11090283 2000
21
Recombinant GM2-activator protein stimulates in vivo degradation of GA2 in GM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay. 61
9972878 1999
22
[Disorders of sphingolipid activator proteins]. 61
8577053 1995
23
Isolation of a cDNA encoding the human GM2 activator protein. 61
2753159 1989
24
Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. 61
824017 1976

Variations for Gm2-Gangliosidosis, Ab Variant

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

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GM2A NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) SNV Pathogenic 390 rs137852797 GRCh37: 5:150646460-150646460
GRCh38: 5:151266899-151266899
2 GM2A NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) SNV Pathogenic 391 rs104893892 GRCh37: 5:150646936-150646936
GRCh38: 5:151267375-151267375
3 GM2A GM2A, 3-BP DEL, 262AAG Deletion Pathogenic 392 GRCh37:
GRCh38:
4 GM2A GM2A, 1-BP DEL, 410A Deletion Pathogenic 393 GRCh37:
GRCh38:
5 GM2A NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) SNV Pathogenic 394 rs104893897 GRCh37: 5:150639394-150639394
GRCh38: 5:151259833-151259833
6 GM2A NC_000005.10:g.(?_151253197)_(151267660_?)del Deletion Pathogenic 529236 GRCh37: 5:150632758-150647221
GRCh38: 5:151253197-151267660
7 HEXA NM_000520.6(HEXA):c.902T>G (p.Met301Arg) SNV Pathogenic 3933 rs121907977 GRCh37: 15:72641504-72641504
GRCh38: 15:72349163-72349163
8 HEXA NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) SNV Pathogenic 556416 rs759157781 GRCh37: 15:72668205-72668205
GRCh38: 15:72375864-72375864
9 HEXA NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) Duplication Pathogenic 3889 rs387906309 GRCh37: 15:72638921-72638924
GRCh38: 15:72346579-72346580
10 GM2A NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) SNV Pathogenic/Likely pathogenic 183275 rs730882196 GRCh37: 5:150639398-150639398
GRCh38: 5:151259837-151259837
11 GM2A NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) SNV Likely pathogenic 375273 rs1057519021 GRCh37: 5:150646902-150646902
GRCh38: 5:151267341-151267341
12 GM2A NM_000405.5(GM2A):c.244-2A>T SNV Likely pathogenic 375272 rs1057519022 GRCh37: 5:150646290-150646290
GRCh38: 5:151266729-151266729
13 GM2A NM_000405.5(GM2A):c.262_264del (p.Lys88del) Deletion Likely pathogenic 976256 GRCh37: 5:150646308-150646310
GRCh38: 5:151266747-151266749
14 GM2A NC_000005.10:g.151253113T>C SNV Uncertain significance 904951 GRCh37: 5:150632674-150632674
GRCh38: 5:151253113-151253113
15 GM2A NC_000005.10:g.151253134C>G SNV Uncertain significance 904952 GRCh37: 5:150632695-150632695
GRCh38: 5:151253134-151253134
16 GM2A NM_000405.5(GM2A):c.308T>C (p.Ile103Thr) SNV Uncertain significance 1029825 GRCh37: 5:150646356-150646356
GRCh38: 5:151266795-151266795
17 GM2A NM_000405.5(GM2A):c.427-13G>A SNV Uncertain significance 1029826 GRCh37: 5:150646844-150646844
GRCh38: 5:151267283-151267283
18 GM2A NM_000405.5(GM2A):c.575G>T (p.Gly192Val) SNV Uncertain significance 1036575 GRCh37: 5:150647005-150647005
GRCh38: 5:151267444-151267444
19 GM2A NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe) Indel Uncertain significance 1040377 GRCh37: 5:150646324-150646325
GRCh38: 5:151266763-151266764
20 GM2A NM_000405.5(GM2A):c.*2695G>A SNV Uncertain significance 352299 rs770518416 GRCh37: 5:150649707-150649707
GRCh38: 5:151270146-151270146
21 GM2A NM_000405.5(GM2A):c.*257C>G SNV Uncertain significance 904228 GRCh37: 5:150647269-150647269
GRCh38: 5:151267708-151267708
22 GM2A NM_000405.5(GM2A):c.*1068A>G SNV Uncertain significance 904286 GRCh37: 5:150648080-150648080
GRCh38: 5:151268519-151268519
23 GM2A NM_000405.5(GM2A):c.*903C>T SNV Uncertain significance 907622 GRCh37: 5:150647915-150647915
GRCh38: 5:151268354-151268354
24 GM2A NM_000405.5(GM2A):c.*984A>G SNV Uncertain significance 907623 GRCh37: 5:150647996-150647996
GRCh38: 5:151268435-151268435
25 GM2A NM_000405.5(GM2A):c.*2619C>T SNV Uncertain significance 907699 GRCh37: 5:150649631-150649631
GRCh38: 5:151270070-151270070
26 GM2A NM_000405.5(GM2A):c.*724G>C SNV Uncertain significance 906601 GRCh37: 5:150647736-150647736
GRCh38: 5:151268175-151268175
27 GM2A NM_000405.5(GM2A):c.*722_*723dup Duplication Uncertain significance 352272 rs35982513 GRCh37: 5:150647722-150647723
GRCh38: 5:151268161-151268162
28 GM2A NM_000405.5(GM2A):c.39G>A (p.Leu13=) SNV Uncertain significance 653201 rs374161170 GRCh37: 5:150632816-150632816
GRCh38: 5:151253255-151253255
29 GM2A NM_000405.5(GM2A):c.*188A>T SNV Uncertain significance 352257 rs886060269 GRCh37: 5:150647200-150647200
GRCh38: 5:151267639-151267639
30 GM2A NM_000405.5(GM2A):c.379G>A (p.Glu127Lys) SNV Uncertain significance 623364 rs1561620130 GRCh37: 5:150646427-150646427
GRCh38: 5:151266866-151266866
31 GM2A NM_000405.5(GM2A):c.11T>A (p.Leu4Gln) SNV Uncertain significance 836689 GRCh37: 5:150632788-150632788
GRCh38: 5:151253227-151253227
32 GM2A NM_000405.5(GM2A):c.*1899G>C SNV Uncertain significance 352288 rs886060274 GRCh37: 5:150648911-150648911
GRCh38: 5:151269350-151269350
33 GM2A NM_000405.5(GM2A):c.*2624C>T SNV Uncertain significance 352297 rs886060278 GRCh37: 5:150649636-150649636
GRCh38: 5:151270075-151270075
34 GM2A NM_000405.5(GM2A):c.*860C>T SNV Uncertain significance 352274 rs368971605 GRCh37: 5:150647872-150647872
GRCh38: 5:151268311-151268311
35 GM2A NM_000405.5(GM2A):c.*1246A>G SNV Uncertain significance 352280 rs760209124 GRCh37: 5:150648258-150648258
GRCh38: 5:151268697-151268697
36 GM2A NM_000405.5(GM2A):c.*1410A>C SNV Uncertain significance 352283 rs181014044 GRCh37: 5:150648422-150648422
GRCh38: 5:151268861-151268861
37 GM2A NM_000405.5(GM2A):c.*274A>G SNV Uncertain significance 352263 rs886060270 GRCh37: 5:150647286-150647286
GRCh38: 5:151267725-151267725
38 GM2A NM_000405.5(GM2A):c.*241C>T SNV Uncertain significance 352260 rs377505668 GRCh37: 5:150647253-150647253
GRCh38: 5:151267692-151267692
39 GM2A NM_000405.5(GM2A):c.*568G>A SNV Uncertain significance 352269 rs886060271 GRCh37: 5:150647580-150647580
GRCh38: 5:151268019-151268019
40 GM2A NM_000405.5(GM2A):c.*2519G>A SNV Uncertain significance 352294 rs138240164 GRCh37: 5:150649531-150649531
GRCh38: 5:151269970-151269970
41 GM2A NM_000405.5(GM2A):c.-7C>G SNV Uncertain significance 352251 rs371628812 GRCh37: 5:150632771-150632771
GRCh38: 5:151253210-151253210
42 GM2A NM_000405.5(GM2A):c.*2529G>A SNV Uncertain significance 352295 rs747946670 GRCh37: 5:150649541-150649541
GRCh38: 5:151269980-151269980
43 GM2A NM_000405.5(GM2A):c.254T>G (p.Val85Gly) SNV Uncertain significance 352254 rs143999954 GRCh37: 5:150646302-150646302
GRCh38: 5:151266741-151266741
44 GM2A NM_000405.5(GM2A):c.*868T>C SNV Uncertain significance 352275 rs886060272 GRCh37: 5:150647880-150647880
GRCh38: 5:151268319-151268319
45 GM2A NM_000405.5(GM2A):c.*704T>A SNV Uncertain significance 352270 rs569818818 GRCh37: 5:150647716-150647716
GRCh38: 5:151268155-151268155
46 GM2A NM_000405.5(GM2A):c.*426C>T SNV Uncertain significance 352267 rs370699960 GRCh37: 5:150647438-150647438
GRCh38: 5:151267877-151267877
47 GM2A NM_000405.5(GM2A):c.*2479C>T SNV Uncertain significance 352293 rs886060276 GRCh37: 5:150649491-150649491
GRCh38: 5:151269930-151269930
48 GM2A NM_000405.5(GM2A):c.*356C>A SNV Uncertain significance 352264 rs189626755 GRCh37: 5:150647368-150647368
GRCh38: 5:151267807-151267807
49 GM2A NM_000405.5(GM2A):c.*245G>A SNV Uncertain significance 352261 rs542291291 GRCh37: 5:150647257-150647257
GRCh38: 5:151267696-151267696
50 GM2A NM_000405.5(GM2A):c.*2113G>A SNV Uncertain significance 352290 rs886060275 GRCh37: 5:150649125-150649125
GRCh38: 5:151269564-151269564

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

72
# Symbol AA change Variation ID SNP ID
1 GM2A p.Cys138Arg VAR_006947 rs137852797
2 GM2A p.Arg169Pro VAR_011698 rs104893892

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

Cellular components related to Gm2-Gangliosidosis, Ab Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 PSAP LAMP2 HEXB GLB1 GBA CP
2 extracellular exosome GO:0070062 9.96 PSAP LAMP2 HEXB HEXA GM2A GLB1
3 intracellular membrane-bounded organelle GO:0043231 9.85 PSAP NEU4 NEU3 HEXA GM2A GLB1
4 lysosome GO:0005764 9.7 TFEB PSAP NEU4 NEU3 LAMP2 HEXB
5 lysosomal membrane GO:0005765 9.63 TFEB PSAP NEU3 LAMP2 GBA CP
6 azurophil granule lumen GO:0035578 9.58 HEXB GM2A GLB1
7 azurophil granule GO:0042582 9.32 HEXB HEXA
8 lysosomal lumen GO:0043202 9.28 PSAP NEU4 LAMP2 HEXB HEXA GM2A

Biological processes related to Gm2-Gangliosidosis, Ab Variant according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 PSAP NEU4 NEU3 GM2A GBA ASAH1
2 neutrophil degranulation GO:0043312 9.91 PSAP LAMP2 HEXB GM2A GLB1 ASAH1
3 carbohydrate metabolic process GO:0005975 9.85 NEU4 NEU3 HEXB HEXA GLB1
4 autophagy GO:0006914 9.76 TFEB LAMP2 GBA
5 metabolic process GO:0008152 9.7 OGA NEU4 NEU3 HEXB HEXA GLB1
6 cellular response to starvation GO:0009267 9.69 TFEB LAMP2 GBA
7 sphingolipid metabolic process GO:0006665 9.67 PSAP GM2A GBA ASAH1
8 lipid storage GO:0019915 9.65 HEXB GM2A GBA
9 lysosome organization GO:0007040 9.62 TFEB HEXB GNPTAB GBA
10 ceramide biosynthetic process GO:0046513 9.58 GBA ASAH1
11 keratan sulfate catabolic process GO:0042340 9.58 HEXB HEXA GLB1
12 neuromuscular process GO:0050905 9.57 HEXB GBA
13 hyaluronan catabolic process GO:0030214 9.56 HEXB HEXA
14 oligosaccharide catabolic process GO:0009313 9.56 NEU4 NEU3 HEXB GM2A
15 sphingosine biosynthetic process GO:0046512 9.55 GBA ASAH1
16 chondroitin sulfate catabolic process GO:0030207 9.54 HEXB HEXA
17 glycoprotein catabolic process GO:0006516 9.52 OGA NEU4
18 ganglioside catabolic process GO:0006689 9.35 NEU4 NEU3 HEXB HEXA GM2A
19 glycosphingolipid metabolic process GO:0006687 9.28 PSAP NEU4 NEU3 HEXB HEXA GM2A

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.81 OGA NEU4 NEU3 HEXB HEXA GM2A
2 beta-galactosidase activity GO:0004565 9.48 PSAP GLB1
3 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.46 HEXB HEXA
4 exo-alpha-(2->8)-sialidase activity GO:0052796 9.43 NEU4 NEU3
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 HEXB HEXA GLB1
6 exo-alpha-(2->6)-sialidase activity GO:0052795 9.4 NEU4 NEU3
7 exo-alpha-(2->3)-sialidase activity GO:0052794 9.37 NEU4 NEU3
8 exo-alpha-sialidase activity GO:0004308 9.32 NEU4 NEU3
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 OGA NEU4 NEU3 HEXB HEXA GLB1
10 beta-N-acetylhexosaminidase activity GO:0004563 9.13 HEXB HEXA GM2A

Sources for Gm2-Gangliosidosis, Ab Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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