DO
MCID: BLD163
MIFTS: 16

Blood Group, Dombrock System (DO)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Dombrock System

MalaCards integrated aliases for Blood Group, Dombrock System:

Name: Blood Group, Dombrock System 57 6
Dombrock Blood Group System 57
Do 57

Classifications:



External Ids:

OMIM® 57 616060

Summaries for Blood Group, Dombrock System

OMIM® : 57 The DO blood group was discovered with serologic tests of blood and named after the original DO(a) serum donor in 1965. Nearly a decade passed before the discovery of the antithetical antigen, DO(b). The DO(a) and DO(b) antigens reside on a glycosylphosphatidylinositol (GPI)-anchored red blood cell (RBC) membrane glycoprotein, ART4, that also carries 3 high-incidence antigens, Gregory (Gy(a)), Holley (Hy), and Joseph (Jo(a)). The DO blood group is not associated with hemolytic disease of the newborn, but severe hemolytic transfusion reactions due to the presence of anti-DO antibodies have been reported among adults (summary by Gubin et al. (2000) and Lucien et al. (2002)). (616060) (Updated 20-May-2021)

MalaCards based summary : Blood Group, Dombrock System, also known as dombrock blood group system, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and acute chest syndrome. An important gene associated with Blood Group, Dombrock System is ART4 (ADP-Ribosyltransferase 4 (Inactive) (Dombrock Blood Group)).

Related Diseases for Blood Group, Dombrock System

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

# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.4
2 acute chest syndrome 10.2
3 sickle cell disease 10.2

Symptoms & Phenotypes for Blood Group, Dombrock System

Clinical features from OMIM®:

616060 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, Dombrock System

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

Genetic Tests for Blood Group, Dombrock System

Anatomical Context for Blood Group, Dombrock System

Publications for Blood Group, Dombrock System

Articles related to Blood Group, Dombrock System:

(show all 31)
# Title Authors PMID Year
1
Two new molecular bases for the Dombrock null phenotype. 61 6 57
12028057 2002
2
Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family. 61 57 6
11001920 2000
3
Short deletion within the blood group Dombrock locus causing a Do(null) phenotype. 57 6
12130524 2002
4
Molecular basis of the Dombrock null phenotype. 6 61
11724986 2001
5
Difficulties in identifying antibodies in the Dombrock blood group system in multiply alloimmunized patients. 61 57
9838931 1998
6
Dombrock blood group (DO): assignment to chromosome 12p. 57 61
8882867 1996
7
The first reported case of anti-Dob causing an acute hemolytic transfusion reaction. 57 61
8036791 1994
8
Enlargement of the Dombrock blood group system: the finding of anti-Do b . 61 57
4691236 1973
9
DNA analysis for the Dombrock polymorphism. 57
11552072 2001
10
Erythrocyte blood group antigens: polymorphisms of functionally important molecules. 57
8916304 1996
11
Genetic linkage data for the Dombrock blood group locus relative to chromosome 1 and chromosome 4 loci. 57
6573154 1983
12
Genetic linkage analysis of the Dombrock (Do) blood group locus. 57
752493 1978
13
The third examples of anti-Do-a. 57
5965697 1966
14
A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese. 61
25865759 2015
15
Management of a pregnant woman with anti-holley alloantibody. 61
26019709 2015
16
Dombrock genotyping in Brazilian blood donors reveals different regional frequencies of the HY allele. 61
24478605 2013
17
A PCR-based strategy for Dombrock screening in Brazilian blood donors reveals a novel allele: the DO* A-WL. 61
21437997 2011
18
Absence of DOMR, a new antigen in the Dombrock blood group system that weakens expression of Do(b) , Gy(a) , Hy, Jo(a) , and DOYA antigens. 61
20412531 2010
19
New antigen in the Dombrock blood group system, DOYA, ablates expression of Do(a) and weakens expression of Hy, Jo(a), and Gy(a) antigens. 61
20088839 2010
20
The Dombrock blood group system: a review. 61
20932078 2010
21
Molecular studies of DO alleles reveal that JO is more prevalent than HY in Brazil, whereas HY is more prevalent in New York. 61
19856715 2008
22
Case report:DNA testing resolves unusual results in the Dombrock system. 61
16813468 2006
23
Complexities of the Dombrock blood group system revealed. 61
16086795 2005
24
The Dombrock blood group system: a review. 61
12519438 2003
25
Studies on the Dombrock blood group system in non-human primates. 61
15373683 2003
26
Insights into the Holley- and Joseph- phenotypes. 61
11896313 2002
27
Confirmation of the assignment of the Dombrock blood group locus (DO) to chromosome 12p: narrowing the boundaries to 12p12.3-p13.2. 61
10971215 2000
28
Anti-Holley detected in a primary immune response. 61
15387742 1996
29
Effect of pronase on high-incidence blood group antigens and the prevalence of antibodies to pronase-treated erythrocytes. 61
15387724 1996
30
Evidence that the Gya, Hy and Joa antigens belong to the Dombrock blood group system. 61
7625075 1995
31
Genetics of the Dombrock blood group system. 61
6034522 1967

Variations for Blood Group, Dombrock System

ClinVar genetic disease variations for Blood Group, Dombrock System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ART4 NM_021071.4(ART4):c.793G>A (p.Asp265Asn) SNV Affects 17730 rs11276 GRCh37: 12:14993439-14993439
GRCh38: 12:14840505-14840505
2 ART4 NM_021071.4(ART4):c.145-2A>G SNV Affects 17731 rs587777831 GRCh37: 12:14994089-14994089
GRCh38: 12:14841155-14841155
3 ART4 NM_021071.4(ART4):c.343_350del (p.Met115fs) Deletion Affects 17732 rs587777832 GRCh37: 12:14993882-14993889
GRCh38: 12:14840948-14840955
4 ART4 NM_021071.4(ART4):c.144+2T>C SNV Affects 17733 rs587777833 GRCh37: 12:14995902-14995902
GRCh38: 12:14842968-14842968
5 ART4 NM_021071.4(ART4):c.442C>T (p.Gln148Ter) SNV Affects 17734 rs56340844 GRCh37: 12:14993790-14993790
GRCh38: 12:14840856-14840856

Expression for Blood Group, Dombrock System

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

Pathways for Blood Group, Dombrock System

GO Terms for Blood Group, Dombrock System

Sources for Blood Group, Dombrock 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
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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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