GLOB
MCID: BLD161
MIFTS: 40

Blood Group, Globoside System (GLOB)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Blood Group, Globoside System

MalaCards integrated aliases for Blood Group, Globoside System:

Name: Blood Group, Globoside System 57
Globe Disease 12 15
Blood Group System, Globoside 39
Glob 57

Classifications:



External Ids:

Disease Ontology 12 DOID:1242
OMIM® 57 615021
ICD9CM 34 360.29
SNOMED-CT 67 194638007
UMLS 70 C0154780

Summaries for Blood Group, Globoside System

OMIM® : 57 The P antigen, globoside-4 (Gb4), is a prominent glycosphingolipid on human erythrocytes (summary by Okajima et al., 2000). P-related IgG and IgM antibodies are implicated in hemolytic transfusion reactions, hemolytic disease of the newborn, and spontaneous abortion (see 614389) (summary by Thuresson et al., 2011). Anti-P antibodies are also implicated in paroxysmal cold hemoglobinuria (PCH), a syndrome often seen in children after viral infection. In PCH, anti-P is also known as the Donath-Landsteiner antibody (Cantin and Lyonnais, 1983; Spitalnik and Spitalnik, 1995). (615021) (Updated 20-May-2021)

MalaCards based summary : Blood Group, Globoside System, also known as globe disease, is related to mycobacterium tuberculosis 1 and endophthalmitis. An important gene associated with Blood Group, Globoside System is B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. Affiliated tissues include eye, bone and heart, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology : 12 An eye disease that involves the globe of the eye.

Related Diseases for Blood Group, Globoside System

Diseases related to Blood Group, Globoside System via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 799)
# Related Disease Score Top Affiliating Genes
1 mycobacterium tuberculosis 1 29.8 TNF TLR2 PRF1 CD4
2 endophthalmitis 29.2 VEGFB VEGFA TNF TLR2 PRF1 PLG
3 pulmonary disease, chronic obstructive 28.3 TNF TLR2 IL6 IL1B CXCL8 CRP
4 blood group, p1pk system 11.1
5 external pathological resorption 10.4 TNF IL6
6 scorpion envenomation 10.4 TNF IL6
7 drug reaction with eosinophilia and systemic symptoms 10.4 TNF CRP
8 cold agglutinin disease 10.4 IL6 CRP
9 angioimmunoblastic lymphadenopathy with dysproteinemia 10.4 TNF IL6
10 osteosclerotic myeloma 10.4 VEGFA IL6
11 neurosyphilis 10.4 TLR2 CXCL8
12 acute endophthalmitis 10.4 VEGFA PRF1
13 staphylococcal toxic shock syndrome 10.4 TNF IL1B
14 anterior scleritis 10.4 TNF CRP
15 periodontitis, chronic 10.4 IL6 IL1B
16 cardiogenic shock 10.4 TNF IL6
17 posterior scleritis 10.3 VEGFA TNF CRP
18 vulvar vestibulitis syndrome 10.3 TNF IL1B
19 soft tissue sarcoma 10.3 VEGFA TNF CRP
20 physiological polycythemia 10.3 TNF IL6 IL1B
21 kashin-beck disease 10.3 TNF IL1B
22 systemic autoimmune disease 10.3 IL6 CRP
23 chronic duodenal ileus 10.3 CRP ALB
24 cryopyrin-associated periodic syndrome 10.3 IL6 CRP
25 retinal ischemia 10.3 VEGFA TNF CRYAA
26 trachoma 10.3 VEGFA TNF IL6
27 acute transverse myelitis 10.3 IL6 CXCL8
28 chondromalacia 10.3 TNF IL6 CRP
29 indolent plasma cell myeloma 10.3 IL6 IL1B
30 rubeosis iridis 10.3 VEGFA PLG
31 uremic pruritus 10.3 IL6 IL1B CRP
32 mycobacterium chelonae 10.3 TLR2 CXCL8
33 carbuncle 10.3 TNF IL6 IL1B
34 skeletal tuberculosis 10.3 TNF CRP
35 pulmonary aspergilloma 10.3 VEGFA CRP
36 tuberculous epididymitis 10.3 TNF CRP
37 melancholia 10.3 TNF IL6 CRP
38 pericoronitis 10.3 IL1B CRP
39 systemic onset juvenile idiopathic arthritis 10.3 TNF PRF1 IL6
40 nodular goiter 10.3 VEGFA IL6 CRP
41 fasciitis 10.3 TNF IL6 CXCL8
42 enterocolitis 10.3 TNF IL6 CXCL8
43 idiopathic neutropenia 10.3 TNF IL6 IL1B
44 glossitis 10.3 TNF IL6 IL1B
45 myelitis 10.3 TNF IL6 CXCL8
46 proctitis 10.3 VEGFA TNF CRP
47 mycobacterium marinum 10.3 TLR2 CXCL8
48 haemophilus meningitis 10.3 TNF IL1B CRP
49 acute gonococcal cervicitis 10.3 IL6 CXCL8
50 toxicodendron dermatitis 10.3 TNF CXCL8

Graphical network of the top 20 diseases related to Blood Group, Globoside System:



Diseases related to Blood Group, Globoside System

Symptoms & Phenotypes for Blood Group, Globoside System

Clinical features from OMIM®:

615021 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Blood Group, Globoside System:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 ALB CD4 CRP FLT1 IL1B IL6
2 cardiovascular system MP:0005385 10.22 ALB CRP EXOC1 FLT1 IL1B IL6
3 immune system MP:0005387 10.2 ALB CCL2 CD4 CRP FLT1 IL1B
4 mortality/aging MP:0010768 10 ALB B3GALNT1 CD4 EXOC1 FLT1 IL1B
5 integument MP:0010771 9.96 CD4 IL1B IL6 LGALS1 PGF PLG
6 neoplasm MP:0002006 9.61 ALB IL1B IL6 PGF PLG PRF1
7 nervous system MP:0003631 9.44 CD4 EXOC1 FLT1 IL1B IL6 LGALS1

Drugs & Therapeutics for Blood Group, Globoside System

Search Clinical Trials , NIH Clinical Center for Blood Group, Globoside System

Genetic Tests for Blood Group, Globoside System

Anatomical Context for Blood Group, Globoside System

MalaCards organs/tissues related to Blood Group, Globoside System:

40
Eye, Bone, Heart, Liver, Skin, Kidney, Lung

Publications for Blood Group, Globoside System

Articles related to Blood Group, Globoside System:

# Title Authors PMID Year
1
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. 57
20971946 2011
2
Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. 57
15142124 2004
3
Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase. 57
10993897 2000
4
Anti-PP1Pk and early abortion. 57
6879680 1983
5
Age-related changes in the pediatric human orbit on CT. 61
23503055 2013
6
Abnormalities of the globe. 61
22647655 2012
7
Human immune response and Chlamydia trachomatis infection. 61
2865801 1985

Variations for Blood Group, Globoside System

Expression for Blood Group, Globoside System

Search GEO for disease gene expression data for Blood Group, Globoside System.

Pathways for Blood Group, Globoside System

Pathways related to Blood Group, Globoside System according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 VEGFB VEGFA TNF PGF IL6 IL1B
2
Show member pathways
13.59 VEGFB VEGFA TNF PGF IL6 IL1B
3
Show member pathways
13.44 VEGFB TNF TLR2 PGF IL6 IL1B
4
Show member pathways
13.39 VEGFA TNF IL6 IL1B CXCL8 CD4
5
Show member pathways
13.35 VEGFB TNF PGF IL6 IL1B FLT1
6
Show member pathways
13.05 VEGFB VEGFA TNF TLR2 PGF IL6
7
Show member pathways
12.97 VEGFA TNF TLR2 IL6 IL1B CXCL8
8
Show member pathways
12.9 VEGFA TNF PRF1 IL6 IL1B CXCL8
9
Show member pathways
12.88 TNF TLR2 PLG IL6 IL1B CXCL8
10 12.83 TNF TLR2 IL6 IL1B CCL2
11 12.83 VEGFB VEGFA TNF PGF IL1B FLT1
12
Show member pathways
12.78 TNF TLR2 IL6 IL1B CXCL8
13
Show member pathways
12.76 VEGFB TNF TLR2 PGF IL6 IL1B
14
Show member pathways
12.66 TNF TLR2 IL6 IL1B CD4
15
Show member pathways
12.65 TNF TLR2 IL6 IL1B CD4
16
Show member pathways
12.65 TNF PLG IL6 IL1B CD4 CCL2
17 12.62 TNF TLR2 LGALS1 IL1B CCL2
18
Show member pathways
12.49 TNF TLR2 IL6 IL1B CXCL8
19
Show member pathways
12.47 VEGFB VEGFA TLR2 PGF FLT1
20
Show member pathways
12.39 TNF TLR2 IL6 IL1B CXCL8 CCL2
21
Show member pathways
12.37 TNF IL6 CXCL8 CCL2
22
Show member pathways
12.31 TNF TLR2 IL6 CXCL8
23 12.31 TNF IL6 IL1B CXCL8 CCL2
24
Show member pathways
12.3 VEGFB TNF PGF IL6 IL1B FLT1
25
Show member pathways
12.29 TNF TLR2 IL6 IL1B CXCL8
26 12.28 TNF TLR2 IL6 IL1B
27
Show member pathways
12.25 TNF TLR2 IL6 IL1B CXCL8
28 12.24 VEGFA TNF TLR2 IL6
29 12.24 VEGFA TNF IL6 IL1B CXCL8
30 12.15 VEGFA TNF IL1B CCL2
31
Show member pathways
12.14 TNF PLG IL6 IL1B CRP CCL2
32 12.08 TNF IL6 IL1B CXCL8 CCL2
33 12.05 TNF IL6 IL1B CXCL8 CD4 CCL2
34 12.04 TNF IL6 IL1B CCL2
35 11.99 TNF TLR2 IL6 IL1B CXCL8
36 11.98 TNF IL6 IL1B CD4
37
Show member pathways
11.94 VEGFB VEGFA PGF FLT1
38
Show member pathways
11.93 TLR2 IL6 IL1B CD4
39 11.86 VEGFA TNF IL6 IL1B CXCL8 CCL2
40 11.85 TNF IL6 IL1B CXCL8
41 11.83 TNF IL6 IL1B CD4
42 11.82 TNF IL1B CD4
43
Show member pathways
11.8 TNF TLR2 IL6 IL1B CD4
44 11.73 TNF TLR2 IL6
45
Show member pathways
11.69 VEGFA TNF IL6 IL1B CXCL8
46 11.67 TNF IL6 IL1B CXCL8 CCL2
47 11.61 VEGFA IL6 CXCL8
48 11.61 TNF TLR2 IL6 IL1B CXCL8
49 11.59 TNF TLR2 IL1B CCL2
50 11.58 TNF PLG IL6

GO Terms for Blood Group, Globoside System

Cellular components related to Blood Group, Globoside System according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 VEGFB VEGFA TNF PRF1 PLG PGF
2 cell surface GO:0009986 9.73 VEGFA TNF TLR2 PLG LGALS1 CD4
3 platelet alpha granule lumen GO:0031093 9.46 VEGFB VEGFA PLG ALB
4 extracellular space GO:0005615 9.44 VEGFB VEGFA TNF PLG PGF LGALS1

Biological processes related to Blood Group, Globoside System according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.33 VEGFB VEGFA TLR2 PGF IL6 IL1B
2 negative regulation of cell proliferation GO:0008285 10.09 TLR2 PLG IL6 IL1B CXCL8
3 positive regulation of gene expression GO:0010628 10.08 VEGFA TNF TLR2 IL6 IL1B CXCL8
4 immune response GO:0006955 10.07 TNF TLR2 IL6 IL1B CXCL8 CD4
5 cellular protein metabolic process GO:0044267 10 PLG LGALS1 IL6 ALB
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 10 VEGFB VEGFA TNF CD4 CCL2
7 response to hypoxia GO:0001666 9.98 VEGFB VEGFA TLR2 PGF
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.97 TNF TLR2 IL6 IL1B
9 cellular response to lipopolysaccharide GO:0071222 9.97 TNF IL6 IL1B CXCL8 CCL2
10 angiogenesis GO:0001525 9.95 VEGFB VEGFA PGF FLT1 CXCL8 CCL2
11 platelet degranulation GO:0002576 9.93 VEGFB VEGFA PLG ALB
12 positive regulation of MAPK cascade GO:0043410 9.93 VEGFA IL6 FLT1 CD4
13 defense response to Gram-positive bacterium GO:0050830 9.92 TNF TLR2 IL6 CRP
14 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.91 VEGFB VEGFA IL6 CD4
15 positive regulation of interleukin-6 production GO:0032755 9.91 TNF TLR2 IL6 IL1B
16 inflammatory response GO:0006954 9.91 TNF TLR2 IL6 IL1B CXCL8 CRP
17 regulation of insulin secretion GO:0050796 9.88 TNF IL6 IL1B
18 cellular response to organic cyclic compound GO:0071407 9.88 TNF LGALS1 IL1B CCL2
19 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.88 VEGFB VEGFA PGF FLT1
20 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.87 VEGFA TNF IL6
21 positive regulation of endothelial cell proliferation GO:0001938 9.87 VEGFB VEGFA PGF
22 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.86 TNF TLR2 IL1B
23 positive regulation of T cell proliferation GO:0042102 9.86 IL6 IL1B CD4
24 positive regulation of MAP kinase activity GO:0043406 9.86 VEGFA TNF FLT1
25 positive regulation of interleukin-8 production GO:0032757 9.86 TNF TLR2 IL6 IL1B
26 humoral immune response GO:0006959 9.85 TNF IL6 CCL2
27 positive chemotaxis GO:0050918 9.84 VEGFB VEGFA PGF
28 monocyte chemotaxis GO:0002548 9.83 IL6 FLT1 CCL2
29 protein kinase B signaling GO:0043491 9.83 TNF IL1B CCL2
30 positive regulation of chemokine production GO:0032722 9.82 TNF TLR2 IL6
31 sprouting angiogenesis GO:0002040 9.81 VEGFB VEGFA PGF
32 positive regulation of cell division GO:0051781 9.81 VEGFB VEGFA PGF IL1B
33 positive regulation of protein phosphorylation GO:0001934 9.8 VEGFB VEGFA TNF PGF IL1B CD4
34 cytokine-mediated signaling pathway GO:0019221 9.8 VEGFA TNF IL6 IL1B CXCL8 CD4
35 negative regulation of neurogenesis GO:0050768 9.79 TNF IL6 IL1B
36 positive regulation of glial cell proliferation GO:0060252 9.77 TNF IL6 IL1B
37 positive regulation of neuroinflammatory response GO:0150078 9.72 TNF IL6 IL1B
38 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 9.71 VEGFA PLG
39 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 TNF TLR2 IL1B CCL2
40 regulation of establishment of endothelial barrier GO:1903140 9.7 TNF IL1B
41 positive regulation of fever generation GO:0031622 9.67 TNF IL1B
42 negative regulation of lipid storage GO:0010888 9.67 TNF IL6 CRP
43 sequestering of triglyceride GO:0030730 9.65 TNF IL1B
44 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.64 TNF IL1B
45 vascular endothelial growth factor production GO:0010573 9.63 TNF IL6 IL1B
46 positive regulation of angiogenesis GO:0045766 9.63 VEGFB VEGFA PGF IL1B FLT1 CXCL8
47 positive regulation of mast cell chemotaxis GO:0060754 9.61 VEGFB VEGFA PGF
48 vascular endothelial growth factor signaling pathway GO:0038084 9.26 VEGFB VEGFA PGF FLT1
49 induction of positive chemotaxis GO:0050930 8.92 VEGFB VEGFA PGF CXCL8

Molecular functions related to Blood Group, Globoside System according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.85 VEGFB VEGFA TNF TLR2 PRF1 LGALS1
2 growth factor activity GO:0008083 9.67 VEGFB VEGFA PGF IL6
3 chemoattractant activity GO:0042056 9.5 VEGFB VEGFA PGF
4 cytokine activity GO:0005125 9.43 VEGFA TNF IL6 IL1B CXCL8 CCL2
5 vascular endothelial growth factor receptor 1 binding GO:0043183 9.26 VEGFB VEGFA
6 vascular endothelial growth factor receptor binding GO:0005172 8.8 VEGFB VEGFA PGF

Sources for Blood Group, Globoside System

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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