GLOB
MCID: BLD161
MIFTS: 30

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 57 29
Globe Disease 12 15
Blood Group System, Globoside 40
Glob 57

Classifications:



External Ids:

OMIM 57 615021
Disease Ontology 12 DOID:1242
ICD10 33 H44.39 H44 H44.8
ICD9CM 35 360.29
UMLS 73 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)

MalaCards based summary : Blood Group, Globoside System, also known as globe disease, is related to endophthalmitis and neovascular glaucoma. 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 Hepatitis C and Hepatocellular Carcinoma and Cell adhesion_Plasmin signaling. Affiliated tissues include eye, brain and bone, and related phenotypes are immune system and 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 58)
# Related Disease Score Top Affiliating Genes
1 endophthalmitis 30.6 CARD9 GON4L MRAP OPTN PLG PRF1
2 neovascular glaucoma 10.2 OPTN VEGFA
3 acute endophthalmitis 10.2 PRF1 VEGFA
4 vitreous detachment 10.2 PLG VEGFA
5 chronic myocardial ischemia 10.2 PLG VEGFA
6 retinal vascular occlusion 10.2 PLG VEGFA
7 vitreous disease 10.2 PLG VEGFA
8 yemenite deaf-blind hypopigmentation syndrome 10.2 OPTN VEGFA
9 endocardium disease 10.2 PLG PRF1
10 vein disease 10.2 PLG VEGFA
11 macular dystrophy, dominant cystoid 10.1 MRAP VEGFA
12 chorioretinitis 10.1 MRAP OPTN
13 osgood-schlatter's disease 10.1 MRAP PRF1
14 iris disease 10.1 MRAP OPTN
15 critical limb ischemia 10.1 IL6 VEGFA
16 limb ischemia 10.1 IL6 VEGFA
17 spinal disease 10.1 IL6 VEGFA
18 poems syndrome 10.1 IL6 VEGFA
19 primary effusion lymphoma 10.1 IL6 VEGFA
20 central retinal vein occlusion 10.1 IL6 VEGFA
21 retinal vein occlusion 10.1 IL6 VEGFA
22 conjunctival disease 10.1 MRAP PLG
23 eales disease 10.1 IL6 VEGFA
24 vaginal disease 10.1 IL6 PRF1
25 vaginitis 10.1 IL6 PRF1
26 listeriosis 10.1 IL6 PRF1
27 retinal artery occlusion 10.1 IL6 VEGFA
28 corneal neovascularization 10.1 PLG VEGFA
29 osteosclerotic myeloma 10.1 IL6 PLG
30 rosacea 10.1 IL6 VEGFA
31 castleman disease 10.1 IL6 VEGFA
32 diabetic macular edema 10.1 IL6 VEGFA
33 bacteriuria 10.1 IL6 PRF1
34 intermediate coronary syndrome 10.1 IL6 PLG
35 arteriovenous malformation 10.1 IL6 VEGFA
36 glaucoma 3, primary congenital, a 10.0 CRYGS OPTN
37 intermittent claudication 10.0 IL6 VEGFA
38 peripheral artery disease 10.0 IL6 VEGFA
39 lens disease 10.0 CRYGS OPTN VEGFA
40 newborn respiratory distress syndrome 10.0 IL6 PLG
41 juvenile ankylosing spondylitis 10.0 IL6 MRAP
42 bacterial vaginosis 10.0 IL6 PRF1
43 pericardial effusion 10.0 IL6 VEGFA
44 breast carcinoma in situ 10.0 IL6 VEGFA
45 mesenteric lymphadenitis 10.0 IL6 MRAP
46 transient arthritis 10.0 IL6 MRAP
47 arteriovenous malformations of the brain 10.0 IL6 VEGFA
48 meningoencephalitis 10.0 CARD9 IL6
49 ewing sarcoma 10.0
50 arteries, anomalies of 10.0 IL6 PLG VEGFA

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.5 CARD9 GON4L IL6 OPTN PLG PRF1
2 neoplasm MP:0002006 9.02 GON4L IL6 PLG PRF1 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 29 B3GALNT1

Anatomical Context for Blood Group, Globoside System

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

41
Eye, Brain, Bone, Breast

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 10.96 IL6 VEGFA
2 10.85 PLG VEGFA
3 10.64 IL6 PLG
4 10.3 IL6 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 defense response to virus GO:0051607 9.13 CARD9 IL6 PRF1
2 response to peptidoglycan GO:0032494 8.62 CARD9 IL6

Sources for Blood Group, Globoside System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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