DO
MCID: BLD163
MIFTS: 26

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 29 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)

MalaCards based summary : Blood Group, Dombrock System, also known as dombrock blood group system, is related to stocco dos santos x-linked mental retardation syndrome and stocco dos santos syndrome. An important gene associated with Blood Group, Dombrock System is ART4 (ADP-Ribosyltransferase 4 (Dombrock Blood Group)). Affiliated tissues include testes, brain and kidney.

Related Diseases for Blood Group, Dombrock System

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

(show top 50) (show all 2513)
# Related Disease Score Top Affiliating Genes
1 stocco dos santos x-linked mental retardation syndrome 12.6
2 stocco dos santos syndrome 12.2
3 chronic fatigue syndrome 11.2
4 alzheimer disease 11.2
5 obsessive-compulsive disorder 11.1
6 cerebral palsy 11.1
7 esophagitis, eosinophilic, 1 11.1
8 trichomoniasis 11.1
9 myelodysplastic syndrome 11.1
10 rickets 11.1
11 arthrogryposis and ectodermal dysplasia 11.1
12 anophthalmia megalocornea cardiopathy skeletal anomalies 11.1
13 osteoporosis 11.1
14 learning disability 11.1
15 fatty liver disease 11.1
16 hemochromatosis, type 1 11.0
17 zika fever 11.0
18 tonsillitis 11.0
19 vaginitis 11.0
20 myocardial infarction 11.0
21 gallbladder disease 1 11.0
22 diabetes mellitus, noninsulin-dependent 11.0
23 depression 11.0
24 migraine with or without aura 1 11.0
25 neural tube defects 11.0
26 prostate cancer 11.0
27 apnea, obstructive sleep 11.0
28 parkinson disease, late-onset 11.0
29 childhood leukemia 11.0
30 genital herpes 11.0
31 schizophrenia 11.0
32 premature ovarian failure 1 11.0
33 dementia 11.0
34 cystic kidney disease 11.0
35 monoclonal gammopathy of uncertain significance 11.0
36 cerebral cavernous malformations 11.0
37 leigh syndrome 11.0
38 cholera 11.0
39 sudden infant death syndrome 10.9
40 diarrhea 10.9
41 alacrima, achalasia, and mental retardation syndrome 10.9
42 carpal tunnel syndrome 10.9
43 ovarian cancer 10.9
44 pulmonary hypertension 10.9
45 pertussis 10.9
46 leukemia, chronic lymphocytic 10.9
47 macular degeneration, age-related, 1 10.9
48 endocarditis 10.9
49 transient cerebral ischemia 10.9
50 endometriosis 10.9

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



Diseases related to Blood Group, Dombrock System

Symptoms & Phenotypes for Blood Group, Dombrock System

Clinical features from OMIM:

616060

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

Genetic tests related to Blood Group, Dombrock System:

# Genetic test Affiliating Genes
1 Blood Group, Dombrock System 29 ART4

Anatomical Context for Blood Group, Dombrock System

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

41
Testes, Brain, Kidney, Liver, Bone, Heart, Breast

Publications for Blood Group, Dombrock System

Articles related to Blood Group, Dombrock System:

# Title Authors Year
1
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. ( 20412531 )
2010
2
The Dombrock blood group system: a review. ( 20932078 )
2010
3
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. ( 20088839 )
2010
4
Complexities of the Dombrock blood group system revealed. ( 16086795 )
2005
5
The Dombrock blood group system: a review. ( 12519438 )
2003
6
Studies on the Dombrock blood group system in non-human primates. ( 15373683 )
2003
7
Difficulties in identifying antibodies in the Dombrock blood group system in multiply alloimmunized patients. ( 9838931 )
1998
8
Evidence that the Gya, Hy and Joa antigens belong to the Dombrock blood group system. ( 7625075 )
1995
9
Enlargement of the Dombrock blood group system: the finding of anti-Do b . ( 4691236 )
1973
10
Genetics of the Dombrock blood group system. ( 6034522 )
1967

Variations for Blood Group, Dombrock System

ClinVar genetic disease variations for Blood Group, Dombrock System:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ART4 NM_021071.3(ART4): c.793G> A (p.Asp265Asn) single nucleotide variant Affects rs11276 GRCh37 Chromosome 12, 14993439: 14993439
2 ART4 NM_021071.3(ART4): c.793G> A (p.Asp265Asn) single nucleotide variant Affects rs11276 GRCh38 Chromosome 12, 14840505: 14840505
3 ART4 NM_021071.3(ART4): c.145-2A> G single nucleotide variant Affects rs587777831 GRCh37 Chromosome 12, 14994089: 14994089
4 ART4 NM_021071.3(ART4): c.145-2A> G single nucleotide variant Affects rs587777831 GRCh38 Chromosome 12, 14841155: 14841155
5 ART4 NM_021071.3(ART4): c.343_350delATGACTAC (p.Met115Hisfs) deletion Affects rs587777832 GRCh38 Chromosome 12, 14840948: 14840955
6 ART4 NM_021071.3(ART4): c.343_350delATGACTAC (p.Met115Hisfs) deletion Affects rs587777832 GRCh37 Chromosome 12, 14993882: 14993889
7 ART4 NM_021071.3(ART4): c.144+2T> C single nucleotide variant Affects rs587777833 GRCh37 Chromosome 12, 14995902: 14995902
8 ART4 NM_021071.3(ART4): c.144+2T> C single nucleotide variant Affects rs587777833 GRCh38 Chromosome 12, 14842968: 14842968
9 ART4 NM_021071.3(ART4): c.442C> T (p.Gln148Ter) single nucleotide variant Affects rs56340844 GRCh37 Chromosome 12, 14993790: 14993790
10 ART4 NM_021071.3(ART4): c.442C> T (p.Gln148Ter) single nucleotide variant Affects rs56340844 GRCh38 Chromosome 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

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74 UMLS via Orphanet
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