MCID: GM2004
MIFTS: 25

Gm2-Gangliosidosis, Several Forms malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Gm2-Gangliosidosis, Several Forms

About this section


Fully expand this MalaCard
MalaCards based summary: Gm2-Gangliosidosis, Several Forms is related to gangliosidosis and tay-sachs disease. An important gene associated with Gm2-Gangliosidosis, Several Forms is HEXA (hexosaminidase A (alpha polypeptide)), and among its related pathways are Lysosome and Sphingolipid metabolism. The compounds Ganglioside GA2 (d18:1/12:0) and Ganglioside GA2 (d18:1/24:1(15Z)) have been mentioned in the context of this disorder.

Description from OMIM:46 272800

Aliases & Classifications for Gm2-Gangliosidosis, Several Forms

About this section

Gm2-Gangliosidosis, Several Forms, Aliases & Descriptions:

Name: Gm2-Gangliosidosis, Several Forms 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Gm2-Gangliosidosis, Several Forms

About this section

Diseases related to Gm2-Gangliosidosis, Several Forms via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gangliosidosis10.0HEXA
2tay-sachs disease9.9HEXA, GM2A
3sandhoff disease9.8GM2A, HEXA

Symptoms for Gm2-Gangliosidosis, Several Forms

About this section


Clinical features from OMIM:

272800

Drugs & Therapeutics for Gm2-Gangliosidosis, Several Forms

About this section

Drug clinical trials:

Search ClinicalTrials for Gm2-Gangliosidosis, Several Forms

Search NIH Clinical Center for Gm2-Gangliosidosis, Several Forms

Genetic Tests for Gm2-Gangliosidosis, Several Forms

About this section

Anatomical Context for Gm2-Gangliosidosis, Several Forms

About this section

Animal Models for Gm2-Gangliosidosis, Several Forms or affiliated genes

About this section

Publications for Gm2-Gangliosidosis, Several Forms

About this section

Variations for Gm2-Gangliosidosis, Several Forms

About this section

UniProtKB/Swiss-Prot genetic disease variations for Gm2-Gangliosidosis, Several Forms:

64 (show all 44)
id Symbol AA change Variation ID SNP ID
1HEXAp.Pro25SerVAR_003202
2HEXAp.Leu39ArgVAR_003203
3HEXAp.Leu127ArgVAR_003204
4HEXAp.Arg166GlyVAR_003205
5HEXAp.Arg170GlnVAR_003206
6HEXAp.Arg170TrpVAR_003207
7HEXAp.Arg178CysVAR_003208
8HEXAp.Arg178HisVAR_003209
9HEXAp.Arg178LeuVAR_003210rs28941770
10HEXAp.Tyr180HisVAR_003211rs28941771
11HEXAp.Val192LeuVAR_003212
12HEXAp.Asn196SerVAR_003213
13HEXAp.Lys197ThrVAR_003214
14HEXAp.Val200MetVAR_003215rs1800429
15HEXAp.His204ArgVAR_003216
16HEXAp.Ser210PheVAR_003217
17HEXAp.Phe211SerVAR_003218
18HEXAp.Gly250AspVAR_003221
19HEXAp.Gly250SerVAR_003222
20HEXAp.Arg252HisVAR_003223
21HEXAp.Asp258HisVAR_003224
22HEXAp.Gly269SerVAR_003225
23HEXAp.Ser279ProVAR_003226
24HEXAp.Met301ArgVAR_003227
25HEXAp.Ile335PheVAR_003230
26HEXAp.Val391MetVAR_003232
27HEXAp.Trp420CysVAR_003234
28HEXAp.Gly454SerVAR_003236
29HEXAp.Gly455ArgVAR_003237
30HEXAp.Cys458TyrVAR_003238
31HEXAp.Trp474CysVAR_003239
32HEXAp.Glu482LysVAR_003240
33HEXAp.Leu484GlnVAR_003241
34HEXAp.Trp485ArgVAR_003242
35HEXAp.Arg499CysVAR_003243
36HEXAp.Arg499HisVAR_003244
37HEXAp.Arg504CysVAR_003245rs28942071
38HEXAp.Arg504HisVAR_003246
39HEXAp.Arg252LeuVAR_017188
40HEXAp.Asn295SerVAR_017189rs199578185
41HEXAp.Leu127PheVAR_022439
42HEXAp.Ser226PheVAR_022440
43HEXAp.Gly269AspVAR_022441
44HEXAp.Asp314ValVAR_022442

Clinvar genetic disease variations for Gm2-Gangliosidosis, Several Forms:

6 (show all 39)
id Gene Name Type Significance SNP ID Assembly Location
1GM2ANM_000405.4(GM2A): c.333delC (p.Cys112Valfs)deletionPathogenicGRCh37Chr 5, 150646381: 150646381
2HEXANM_000520.4(HEXA): c.1305C> T (p.Tyr435=)single nucleotide variantPathogenicGRCh37Chr 15, 72638893: 72638893
3HEXANM_000520.4(HEXA): c.718_719insT (p.Lys240Ilefs)insertionPathogenicGRCh37Chr 15, 72642945: 72642946
4HEXANM_000520.4(HEXA): c.173G> A (p.Cys58Tyr)single nucleotide variantPathogenicrs387906949GRCh37Chr 15, 72668141: 72668141
5HEXANM_000520.4(HEXA): c.1274_1277dupTATC (p.Tyr427Ilefs)duplicationPathogenicrs387906309GRCh37Chr 15, 72638921: 72638924
6HEXANM_000520.4(HEXA): c.1421+1G> Csingle nucleotide variantPathogenicrs147324677GRCh37Chr 15, 72638575: 72638575
7HEXANM_000520.4: c.-2564_253+5128delinsGindelPathogenicGRCh38Chr 15, 72370592: 72378536
8HEXANM_000520.4(HEXA): c.1444G> A (p.Glu482Lys)single nucleotide variantPathogenicrs121907952GRCh37Chr 15, 72637869: 72637869
9HEXAHEXA, IVS2, G-C, +1single nucleotide variantPathogenic
10HEXAHEXA, 1-BP DEL, 1510CdeletionPathogenic
11HEXANM_000520.4(HEXA): c.509G> A (p.Arg170Gln)single nucleotide variantPathogenicrs121907957GRCh37Chr 15, 72645470: 72645470
12HEXANM_000520.4(HEXA): c.1260G> C (p.Trp420Cys)single nucleotide variantPathogenicrs121907958GRCh37Chr 15, 72638938: 72638938
13HEXANM_000520.4(HEXA): c.910_912delTTC (p.Phe305del)deletionPathogenicrs121907960GRCh37Chr 15, 72641494: 72641496
14HEXANM_000520.4(HEXA): c.409C> T (p.Arg137Ter)single nucleotide variantPathogenicrs121907962GRCh37Chr 15, 72647903: 72647903
15HEXANM_000520.4(HEXA): c.1177C> T (p.Arg393Ter)single nucleotide variantPathogenicrs121907963GRCh37Chr 15, 72639021: 72639021
16HEXAHEXA, IVS4, G-T, -1single nucleotide variantPathogenic
17HEXANM_000520.4(HEXA): c.629C> T (p.Ser210Phe)single nucleotide variantPathogenicrs121907961GRCh37Chr 15, 72643517: 72643517
18HEXAHEXA, 5-BP DEL, TCTCC, IVS9deletionPathogenic
19HEXAHEXA, 2-BP DEL, TG, EX5deletionPathogenic
20HEXANM_000520.4(HEXA): c.78G> A (p.Trp26Ter)single nucleotide variantPathogenicrs121907964GRCh37Chr 15, 72668236: 72668236
21HEXANM_000520.4(HEXA): c.533G> T (p.Arg178Leu)single nucleotide variantPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446
22HEXAHEXA, IVS2, G-A, +1single nucleotide variantPathogenic
23HEXANM_000520.4(HEXA): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs121907965GRCh37Chr 15, 72668313: 72668313
24HEXANM_000520.4(HEXA): c.1453T> C (p.Trp485Arg)single nucleotide variantPathogenicrs121907968GRCh37Chr 15, 72637860: 72637860
25HEXAHEXA, 1-BP INSinsertionPathogenic
26HEXANM_000520.4(HEXA): c.540C> G (p.Tyr180Ter)single nucleotide variantPathogenicrs121907969GRCh37Chr 15, 72645439: 72645439
27HEXANM_000520.4(HEXA): c.1073+1G> Asingle nucleotide variantPathogenicrs76173977GRCh37Chr 15, 72640388: 72640388
28HEXANM_000520.4(HEXA): c.508C> T (p.Arg170Trp)single nucleotide variantPathogenicrs121907972GRCh37Chr 15, 72645471: 72645471
29HEXAHEXA, 2-BP DEL, CODON 310deletionPathogenic
30HEXANM_000520.4(HEXA): c.632T> C (p.Phe211Ser)single nucleotide variantPathogenicrs121907974GRCh37Chr 15, 72643514: 72643514
31HEXANM_000520.4(HEXA): c.380T> G (p.Leu127Arg)single nucleotide variantPathogenicrs121907975GRCh37Chr 15, 72647932: 72647932
32HEXANM_000520.4(HEXA): c.611A> G (p.His204Arg)single nucleotide variantPathogenicrs121907976GRCh37Chr 15, 72643535: 72643535
33HEXAHEXA, 2-BP DEL, TT, CODON 142deletionPathogenic
34HEXANM_000520.4(HEXA): c.902T> G (p.Met301Arg)single nucleotide variantPathogenicrs121907977GRCh37Chr 15, 72641504: 72641504
35HEXANM_000520.4(HEXA): c.1360G> A (p.Gly454Ser)single nucleotide variantPathogenicrs121907978GRCh37Chr 15, 72638637: 72638637
36HEXANM_000520.4(HEXA): c.116T> G (p.Leu39Arg)single nucleotide variantPathogenicrs121907979GRCh37Chr 15, 72668198: 72668198
37HEXANM_000520.4(HEXA): c.1176G> A (p.Trp392Ter)single nucleotide variantPathogenicrs267606862GRCh37Chr 15, 72639022: 72639022
38HEXAHEXA, IVS7, G-A, +1single nucleotide variantPathogenic
39HEXANM_000520.4(HEXA): c.1351C> G (p.Leu451Val)single nucleotide variantPathogenicrs28940871GRCh37Chr 15, 72638646: 72638646

Expression for genes affiliated with Gm2-Gangliosidosis, Several Forms

About this section
Expression patterns in normal tissues for genes affiliated with Gm2-Gangliosidosis, Several Forms

Search GEO for disease gene expression data for Gm2-Gangliosidosis, Several Forms.

Pathways for genes affiliated with Gm2-Gangliosidosis, Several Forms

About this section

Pathways related to Gm2-Gangliosidosis, Several Forms according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GM2A, HEXA
2
Show member pathways
9.1GM2A, HEXA

Compounds for genes affiliated with Gm2-Gangliosidosis, Several Forms

About this section
Sources:
24HMDB, 44Novoseek
See all sources

Compounds related to Gm2-Gangliosidosis, Several Forms according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1Ganglioside GA2 (d18:1/12:0)249.6GM2A, HEXA
2Ganglioside GA2 (d18:1/24:1(15Z))249.6HEXA, GM2A
3Ganglioside GA2 (d18:1/25:0)249.6GM2A, HEXA
4Ganglioside GA2 (d18:1/26:0)249.6GM2A, HEXA
5Ganglioside GA2 (d18:1/26:1(17Z))249.6GM2A, HEXA
6Ganglioside GA2 (d18:1/9Z-18:1)249.6GM2A, HEXA
7Ganglioside GA2 (d18:1/24:0)249.6HEXA, GM2A
8Ganglioside GA2 (d18:1/16:0)249.6GM2A, HEXA
9Ganglioside GA2 (d18:1/18:0)249.6GM2A, HEXA
10Ganglioside GA2 (d18:1/20:0)249.6GM2A, HEXA
11Ganglioside GA2 (d18:1/22:0)249.6GM2A, HEXA
12Ganglioside GM3 (d18:1/24:0)249.6HEXA, GM2A
13Ganglioside GM3 (d18:1/24:1(15Z))249.6GM2A, HEXA
14Ganglioside GM3 (d18:1/26:0)249.5GM2A, HEXA
15Ganglioside GM3 (d18:1/26:1(17Z)))249.5GM2A, HEXA
16Ganglioside GM3 (d18:1/9Z-18:1)249.5GM2A, HEXA
17Ganglioside GM3 (d18:1/22:0)249.5HEXA, GM2A
18Ganglioside GM3 (d18:1/12:0)249.5GM2A, HEXA
19Ganglioside GM3 (d18:1/16:0)249.5GM2A, HEXA
20Ganglioside GM3 (d18:1/18:0)249.5GM2A, HEXA
21Ganglioside GM3 (d18:1/20:0)249.5GM2A, HEXA
22Ganglioside GM3 (d18:1/25:0)249.5HEXA, GM2A
23Ganglioside GM2 (d18:1/24:1(15Z))249.5HEXA, GM2A
24Ganglioside GM2 (d18:1/25:0)249.5GM2A, HEXA
25Ganglioside GM2 (d18:1/26:0)249.5GM2A, HEXA
26Ganglioside GM2 (d18:1/26:1(17Z))249.5GM2A, HEXA
27Ganglioside GM2 (d18:1/9Z-18:1)249.5GM2A, HEXA
28Ganglioside GM2 (d18:1/24:0)249.5HEXA, GM2A
29Ganglioside GM2 (d18:1/12:0)249.5GM2A, HEXA
30Ganglioside GM2 (d18:1/16:0)249.5GM2A, HEXA
31Ganglioside GM2 (d18:1/18:0)249.5GM2A, HEXA
32Ganglioside GM2 (d18:1/22:0)249.5GM2A, HEXA
33glycolipid449.5GM2A, HEXA
34Tetrahexosylceramide (d18:1/12:0)249.4HEXA, GM2A
35Trihexosylceramide (d18:1/24:0)249.4HEXA, GM2A
36Trihexosylceramide (d18:1/24:1(15Z))249.4GM2A, HEXA
37Trihexosylceramide (d18:1/25:0)249.4GM2A, HEXA
38Trihexosylceramide (d18:1/26:1(17Z))249.4GM2A, HEXA
39Trihexosylceramide (d18:1/9Z-18:1)249.4GM2A, HEXA
40Trihexosylceramide (d18:1/22:0)249.4HEXA, GM2A
41Trihexosylceramide (d18:1/12:0)249.4GM2A, HEXA
42Trihexosylceramide (d18:1/16:0)249.3GM2A, HEXA
43Trihexosylceramide (d18:1/18:0)249.3GM2A, HEXA
44Trihexosylceramide (d18:1/20:0)249.3GM2A, HEXA
45Lactosylceramide (d18:1/24:0)249.2HEXA, GM2A
46Lactosylceramide (d18:1/22:0)249.2HEXA, GM2A
47Lactosylceramide (d18:1/18:0)249.1HEXA, GM2A
48Lactosylceramide (d18:1/26:1(17Z))249.1GM2A, HEXA
49Lactosylceramide (d18:1/12:0)249.0GM2A, HEXA
50Lactosylceramide (d18:1/26:0)248.8GM2A, HEXA

GO Terms for genes affiliated with Gm2-Gangliosidosis, Several Forms

About this section

Cellular components related to Gm2-Gangliosidosis, Several Forms according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.1GM2A, HEXA

Biological processes related to Gm2-Gangliosidosis, Several Forms according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:0066899.2GM2A, HEXA
2lipid storageGO:0199159.1GM2A, HEXA
3sphingolipid metabolic processGO:0066659.1GM2A, HEXA
4glycosphingolipid metabolic processGO:0066879.0HEXA, GM2A
5neuromuscular process controlling balanceGO:0508858.8GM2A, HEXA

Molecular functions related to Gm2-Gangliosidosis, Several Forms according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-N-acetylhexosaminidase activityGO:0045639.1GM2A, HEXA

Products for genes affiliated with Gm2-Gangliosidosis, Several Forms

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Gm2-Gangliosidosis, Several Forms

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet