GLOB
MCID: BLD161
MIFTS: 29

Blood Group, Globoside System (GLOB)

Categories: Blood diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Blood Group, Globoside System

MalaCards integrated aliases for Blood Group, Globoside System:

Name: Blood Group, Globoside System 58 30
Globe Disease 12 15
Blood Group System, Globoside 41
Glob 58

Classifications:



External Ids:

Disease Ontology 12 DOID:1242
OMIM 58 615021
ICD9CM 36 360.29
ICD10 34 H44 H44.39 H44.8
UMLS 74 C0154780

Summaries for Blood Group, Globoside System

OMIM : 58 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)

MalaCards based summary : Blood Group, Globoside System, also known as globe disease, is related to endophthalmitis and vitreous detachment. 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 Tuberculosis and Colorectal Cancer Metastasis. Affiliated tissues include eye, and related phenotype is neoplasm.

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 53)
# Related Disease Score Top Affiliating Genes
1 endophthalmitis 30.7 CARD9 GON4L MRAP PLG PRF1 VEGFA
2 vitreous detachment 10.4 PLG VEGFA
3 chronic myocardial ischemia 10.4 PLG VEGFA
4 retinal vascular occlusion 10.3 PLG VEGFA
5 vitreous disease 10.3 PLG VEGFA
6 macular dystrophy, dominant cystoid 10.3 MRAP VEGFA
7 critical limb ischemia 10.3 IL6 VEGFA
8 spinal disease 10.3 IL6 VEGFA
9 poems syndrome 10.3 IL6 VEGFA
10 primary effusion lymphoma 10.3 IL6 VEGFA
11 osteosclerotic myeloma 10.3 IL6 PLG
12 acute endophthalmitis 10.3 PRF1 VEGFA
13 hepatic veno-occlusive disease 10.3 PLG VEGFA
14 central retinal vein occlusion 10.3 IL6 VEGFA
15 eales disease 10.3 IL6 VEGFA
16 juvenile ankylosing spondylitis 10.2 IL6 MRAP
17 retinal artery occlusion 10.2 IL6 VEGFA
18 conjunctival disease 10.2 MRAP PLG
19 intermediate coronary syndrome 10.2 IL6 PLG
20 castleman disease 10.2 IL6 VEGFA
21 osgood-schlatter's disease 10.2 MRAP PRF1
22 endocardium disease 10.2 PLG PRF1
23 diabetic macular edema 10.2 IL6 VEGFA
24 transient arthritis 10.2 IL6 MRAP
25 vein disease 10.2 PLG VEGFA
26 vaginal disease 10.2 IL6 PRF1
27 viral encephalitis 10.2 IL6 VEGFA
28 vaginitis 10.2 IL6 PRF1
29 listeriosis 10.2 IL6 PRF1
30 tuberculous meningitis 10.2 TLR2 VEGFA
31 primary systemic mycosis 10.2 CARD9 TLR2
32 periodontitis, chronic 10.2 IL6 TLR2
33 bacteriuria 10.1 IL6 PRF1
34 periapical periodontitis 10.1 IL6 TLR2
35 arteries, anomalies of 10.1 IL6 PLG VEGFA
36 mycoplasma pneumoniae pneumonia 10.1 IL6 TLR2
37 nervous system disease 10.1 IL6 PLG VEGFA
38 newborn respiratory distress syndrome 10.1 IL6 PLG
39 macular retinal edema 10.1 IL6 MRAP VEGFA
40 middle ear disease 10.1 IL6 TLR2
41 ileitis 10.1 IL6 TLR2
42 purulent endophthalmitis 10.1 MRAP PRF1 VEGFA
43 meningoencephalitis 10.0 CARD9 IL6
44 q fever 10.0 IL6 TLR2
45 arteriovenous malformation 10.0 IL6 VEGFA
46 aphthous stomatitis 10.0 IL6 TLR2
47 infective endocarditis 10.0 IL6 TLR2
48 ewing sarcoma 10.0
49 rosacea 10.0 IL6 TLR2 VEGFA
50 mesenteric lymphadenitis 10.0 IL6 MRAP TLR2

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

MGI Mouse Phenotypes related to Blood Group, Globoside System:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 GON4L IL6 PLG PRF1 TLR2 VEGFA

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

Genetic tests related to Blood Group, Globoside System:

# Genetic test Affiliating Genes
1 Blood Group, Globoside System 30

Anatomical Context for Blood Group, Globoside System

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

42
Eye

Publications for Blood Group, Globoside System

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:

# Super pathways Score Top Affiliating Genes
1 11.69 CARD9 IL6 TLR2
2 11.55 IL6 TLR2 VEGFA
3
Show member pathways
11.23 IL6 PLG TLR2
4 10.76 IL6 TLR2 VEGFA

GO Terms for Blood Group, Globoside System

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.62 IL6 NR2E3 PLG TLR2
2 defense response to virus GO:0051607 9.58 CARD9 IL6 PRF1
3 positive regulation of chemokine production GO:0032722 9.37 IL6 TLR2
4 defense response to Gram-positive bacterium GO:0050830 9.33 CARD9 IL6 TLR2
5 eye photoreceptor cell development GO:0042462 9.26 NR2E3 VEGFA
6 response to peptidoglycan GO:0032494 8.96 CARD9 IL6
7 positive regulation of interleukin-6 production GO:0032755 8.8 CARD9 IL6 TLR2

Sources for Blood Group, Globoside System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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