JR
MCID: BLD159
MIFTS: 19

Blood Group, Junior System (JR)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Junior System

MalaCards integrated aliases for Blood Group, Junior System:

Name: Blood Group, Junior System 57 29 6
Blood Group System, Junior 40
Junior Blood Group System 57
Jr 57

Classifications:



External Ids:

OMIM 57 614490

Summaries for Blood Group, Junior System

OMIM : 57 Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent (summary by Kim et al., 2010 and Zelinski et al., 2012). (614490)

MalaCards based summary : Blood Group, Junior System, also known as blood group system, junior, is related to li-fraumeni syndrome and cohen syndrome. An important gene associated with Blood Group, Junior System is ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)). Affiliated tissues include breast, lung and kidney.

Related Diseases for Blood Group, Junior System

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 11.1
2 cohen syndrome 11.1
3 pemphigus foliaceus 10.2
4 prostate cancer 10.0
5 transposition of the great arteries 10.0
6 breast cancer 10.0
7 pulmonary fibrosis, idiopathic 10.0
8 disorganization, mouse, homolog of 10.0
9 pulmonary fibrosis 10.0
10 japanese encephalitis 10.0
11 rheumatoid arthritis 9.9
12 vesicoureteral reflux 1 9.9
13 astigmatism 9.9
14 lymphangioleiomyomatosis 9.9
15 paramyloidosis 9.9
16 arteriovenous malformation 9.9
17 diarrhea 9.9
18 dumping syndrome 9.9
19 polymyositis 9.9
20 cerebral aneurysms 9.9
21 bladder cancer 9.7
22 hepatocellular carcinoma 9.7
23 creutzfeldt-jakob disease 9.7
24 frasier syndrome 9.7
25 obsessive-compulsive disorder 9.7
26 ovarian cancer 9.7
27 nephrolithiasis, calcium oxalate 9.7
28 retinoblastoma 9.7
29 small cell cancer of the lung 9.7
30 wolff-parkinson-white syndrome 9.7
31 lung cancer 9.7
32 kuru 9.7
33 gallbladder disease 1 9.7
34 myopathy, myosin storage, autosomal dominant 9.7
35 human immunodeficiency virus type 1 9.7
36 west nile virus 9.7
37 bardet-biedl syndrome 2 9.7
38 bardet-biedl syndrome 10 9.7
39 bardet-biedl syndrome 11 9.7
40 bardet-biedl syndrome 12 9.7
41 al-raqad syndrome 9.7
42 adult t-cell leukemia 9.7
43 cataract 9.7
44 leukemia 9.7
45 nephrolithiasis 9.7
46 spinal muscular atrophy 9.7
47 temporal lobe epilepsy 9.7
48 scoliosis 9.7
49 bubonic plague 9.7
50 hydronephrosis 9.7

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



Diseases related to Blood Group, Junior System

Symptoms & Phenotypes for Blood Group, Junior System

Clinical features from OMIM:

614490

Drugs & Therapeutics for Blood Group, Junior System

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

Genetic Tests for Blood Group, Junior System

Genetic tests related to Blood Group, Junior System:

# Genetic test Affiliating Genes
1 Blood Group, Junior System 29 ABCG2

Anatomical Context for Blood Group, Junior System

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

41
Breast, Lung, Kidney, Prostate, T Cells, Temporal Lobe

Publications for Blood Group, Junior System

Articles related to Blood Group, Junior System:

# Title Authors Year
1
Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. ( 22246505 )
2012

Variations for Blood Group, Junior System

ClinVar genetic disease variations for Blood Group, Junior System:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCG2 NM_004827.2(ABCG2): c.736C> T (p.Arg246Ter) single nucleotide variant Affects rs200190472 GRCh37 Chromosome 4, 89039366: 89039366
2 ABCG2 NM_004827.2(ABCG2): c.736C> T (p.Arg246Ter) single nucleotide variant Affects rs200190472 GRCh38 Chromosome 4, 88118214: 88118214
3 ABCG2 NM_004827.2(ABCG2): c.1111_1112delAC (p.Thr371Leufs) deletion Affects rs387906869 GRCh37 Chromosome 4, 89034537: 89034538
4 ABCG2 NM_004827.2(ABCG2): c.1111_1112delAC (p.Thr371Leufs) deletion Affects rs387906869 GRCh38 Chromosome 4, 88113385: 88113386
5 ABCG2 NM_004827.2(ABCG2): c.376C> T (p.Gln126Ter) single nucleotide variant association rs72552713 GRCh37 Chromosome 4, 89052957: 89052957
6 ABCG2 NM_004827.2(ABCG2): c.376C> T (p.Gln126Ter) single nucleotide variant association rs72552713 GRCh38 Chromosome 4, 88131805: 88131805
7 ABCG2 NM_004827.2(ABCG2): c.34G> A (p.Val12Met) single nucleotide variant Affects, association rs2231137 GRCh37 Chromosome 4, 89061114: 89061114
8 ABCG2 NM_004827.2(ABCG2): c.34G> A (p.Val12Met) single nucleotide variant Affects, association rs2231137 GRCh38 Chromosome 4, 88139962: 88139962
9 ABCG2 NM_004827.2(ABCG2): c.706C> T (p.Arg236Ter) single nucleotide variant association rs140207606 GRCh37 Chromosome 4, 89039396: 89039396
10 ABCG2 NM_004827.2(ABCG2): c.706C> T (p.Arg236Ter) single nucleotide variant association rs140207606 GRCh38 Chromosome 4, 88118244: 88118244
11 ABCG2 NM_004827.2(ABCG2): c.791_792delTT (p.Leu264Hisfs) deletion Affects rs387906870 GRCh37 Chromosome 4, 89039310: 89039311
12 ABCG2 NM_004827.2(ABCG2): c.791_792delTT (p.Leu264Hisfs) deletion Affects rs387906870 GRCh38 Chromosome 4, 88118158: 88118159
13 ABCG2 NM_004827.2(ABCG2): c.421C> A (p.Gln141Lys) single nucleotide variant drug response rs2231142 GRCh37 Chromosome 4, 89052323: 89052323
14 ABCG2 NM_004827.2(ABCG2): c.421C> A (p.Gln141Lys) single nucleotide variant drug response rs2231142 GRCh38 Chromosome 4, 88131171: 88131171

Expression for Blood Group, Junior System

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

Pathways for Blood Group, Junior System

GO Terms for Blood Group, Junior System

Sources for Blood Group, Junior System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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