DI
MCID: BLD166
MIFTS: 14

Blood Group, Diego System (DI)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Diego System

MalaCards integrated aliases for Blood Group, Diego System:

Name: Blood Group, Diego System 57
Blood Group--Diego System 29 6
Diego Blood Group System 57
Di 57

Classifications:



External Ids:

OMIM® 57 110500

Summaries for Blood Group, Diego System

OMIM® : 57 The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency antigens that result from amino acid substitutions in SLC4A1, which encodes the erythrocyte band-3 protein. The low-frequency Di(a) and high-frequency Di(b) antigens represent leu854 and pro854, respectively. The low-frequency Wr(a) and high-frequency Wr(b) antigens represent lys658 and glu658, respectively. No healthy person with a Diego-null phenotype has been reported, reflecting the functional importance of SLC4A1 (summary by Daniel, 2002). (110500) (Updated 20-May-2021)

MalaCards based summary : Blood Group, Diego System, also known as blood group--diego system, is related to hemolytic disease due to fetomaternal alloimmunization. An important gene associated with Blood Group, Diego System is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)).

Related Diseases for Blood Group, Diego System

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

# Related Disease Score Top Affiliating Genes
1 hemolytic disease due to fetomaternal alloimmunization 10.1

Symptoms & Phenotypes for Blood Group, Diego System

Clinical features from OMIM®:

110500 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, Diego System

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

Genetic Tests for Blood Group, Diego System

Genetic tests related to Blood Group, Diego System:

# Genetic test Affiliating Genes
1 Blood Group--Diego System 29 SLC4A1

Anatomical Context for Blood Group, Diego System

Publications for Blood Group, Diego System

Articles related to Blood Group, Diego System:

(show all 40)
# Title Authors PMID Year
1
Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro854-->Leu. 57
8206915 1994
2
The Diego blood group locus is located on chromosome 17q. 57
7902326 1993
3
Haemolytic disease of the newborn due to anti-Dia and incidence of the Dia antigen in Poland. 57
1519367 1992
4
The Diego blood groups: a genetic linkage analysis. 57
1247017 1976
5
Another example of anti-Diego (Dia). 57
13669428 1959
6
The Diego blood factor. 57
13288586 1956
7
Identification of a novel DI*02(2558T) allele associated with weakened expression of DI2 antigen. 61
32789883 2020
8
Distribution of Diego blood group alleles and genotypes in the Chinese Korean population and sequence-based identification. 61
32220505 2020
9
The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests. 61
30143806 2019
10
Profile of Rh, Kell, Duffy, Kidd, and Diego blood group systems among blood donors in the Southwest region of the Paraná state, Southern Brazil. 61
27566949 2016
11
Red cell antigen prevalence predicted by molecular testing in ethnic groups of South Texas blood donors. 61
27187198 2015
12
Revisiting the Diego Blood Group System in Amerindians: Evidence for Gene-Culture Comigration. 61
26148209 2015
13
Rh, Kell, Duffy, Kidd and Diego blood group system polymorphism in Brazilian Japanese descendants. 61
24231689 2014
14
The Diego blood group system: a review. 61
24094240 2013
15
[High-throughput genotyping multiplex ligation-dependent probe amplification for assisting diagnosis in a case of anti-Di(a)-induced severe hemolytic disease of the newborn]. 61
22381766 2012
16
Distribution of Diego blood group alleles and identification of four novel mutations on exon 19 of SLC4A1 gene in the Chinese Han population by polymerase chain reaction sequence-based typing. 61
20825599 2011
17
Severe hemolytic disease of the newborn due to anti-Di b treated with phototherapy and intravenous immunoglobulin. 61
18316786 2008
18
Analysis in non-human primates reveals that the ancestral Band 3 gene encodes Dib and the Band 3-Memphis phenotype. 61
16764672 2006
19
Storage-related changes in erythrocyte band 3: not a case for the Diego blood group antigens. 61
16171555 2005
20
Substitution Glu480Lys in erythroid band 3 corresponds to the Fr(a) blood group antigen and supports existence of the second ectoplasmic loop of band 3. 61
15104648 2004
21
Development of a DNA-based genotyping method for the Diego blood group system. 61
12473133 2002
22
An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism. 61
11061863 2000
23
Amino acid substitutions in human erythroid protein band 3 account for the low-incidence antigens NFLD and BOW. 61
10738034 2000
24
Red cell antigens on band 3 and glycophorin A. 61
10805259 2000
25
Distinctive Swann blood group genotypes: molecular investigations. 61
11155072 2000
26
[Diego blood group system]. 61
10635926 1999
27
The Diego blood group system-an update. 61
15373634 1999
28
Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein. 61
9845551 1998
29
A Gly565-->Ala substitution in human erythroid band 3 accounts for the Wu blood group polymorphism. 61
9709782 1998
30
Erythrocyte band 3 antigens and the Diego Blood Group System. 61
9460189 1998
31
The ELO blood group polymorphism is located in the putative first extracellular loop of human erythrocyte band 3. 61
9745156 1998
32
Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3. 61
9191821 1997
33
A Thr552 -->Ile substitution in erythroid band 3 gives rise to the Warrior blood group antigen. 61
9111277 1997
34
The low-incidence blood group antigen, Wda, is associated with the substitution Val557-->Met in human erythrocyte band 3 (AE1). 61
8873423 1996
35
Review: The Diego blood group system. 61
15946085 1993
36
A red cell band 3 variant with altered stilbene disulphonate binding is associated with the Diego (Dia) blood group antigen. 61
1471983 1992
37
[Studies of occurrence of antigen Dia from the Diego blood-group system in the Polish population]. 61
1823952 1991
38
The first example of anti-Dia antibody in Poland. 61
2079854 1990
39
Case report. An immediate hemolytic transfusion reaction apparently caused by anti-Dia. 61
121166 1979
40
The Diego blood group system. 61
13504148 1958

Variations for Blood Group, Diego System

ClinVar genetic disease variations for Blood Group, Diego System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708

Expression for Blood Group, Diego System

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

Pathways for Blood Group, Diego System

GO Terms for Blood Group, Diego System

Sources for Blood Group, Diego 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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