RD
MCID: RDN004
MIFTS: 18

Radin Blood Group Antigen (RD)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Radin Blood Group Antigen

MalaCards integrated aliases for Radin Blood Group Antigen:

Name: Radin Blood Group Antigen 56
Rd 56 17
Blood Group--Radin Antigen 56

Classifications:



External Ids:

OMIM 56 111620
MedGen 41 C1862204

Summaries for Radin Blood Group Antigen

OMIM : 56 Radin is a rare red cell antigen discovered by Rausen et al. (1967) in 5 families with varying ethnic backgrounds. It has been shown to cause mild to moderate hemolytic disease of the newborn in some cases. The Radin antigen is determined by a polymorphism in the ERMAP gene (609017.0003) and thus is a member of the blood group Scianna (Wagner et al., 2003). Radin has alternatively been labeled Sc4 to reflect this relationship. Harvey et al. (1983) estimated the frequency of the Radin antigen among Europeans to be 0.04% to 0.66% with the highest frequencies occurring among Swedes and Danes. (111620)

MalaCards based summary : Radin Blood Group Antigen, also known as rd, is related to respiratory distress syndrome in premature infants and restrictive dermopathy, lethal. An important gene associated with Radin Blood Group Antigen is ERMAP (Erythroblast Membrane Associated Protein (Scianna Blood Group)). Related phenotype is abnormal immunoglobulin level.

Related Diseases for Radin Blood Group Antigen

Diseases related to Radin Blood Group Antigen via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 300)
# Related Disease Score Top Affiliating Genes
1 respiratory distress syndrome in premature infants 12.3
2 restrictive dermopathy, lethal 12.0
3 reticular dysgenesis 12.0
4 refsum disease, classic 11.9
5 respiratory distress syndrome, infant 11.7
6 bronchopulmonary dysplasia 11.5
7 choroidal dystrophy, central areolar, 1 11.5
8 adult respiratory distress syndrome 11.2
9 renal hypodysplasia/aplasia 1 11.2
10 renal hypodysplasia/aplasia 2 11.2
11 surfactant dysfunction 11.2
12 retinal degeneration 10.9
13 retinitis pigmentosa 10.8
14 neuroretinitis 10.8
15 retinitis 10.8
16 haemophilus influenzae 10.7
17 rhabdomyosarcoma 10.6
18 retinal disease 10.5
19 macular degeneration, age-related, 1 10.4
20 yemenite deaf-blind hypopigmentation syndrome 10.4
21 pattern dystrophy 10.4
22 fundus dystrophy 10.3
23 inherited retinal disorder 10.3
24 macular dystrophy, patterned, 1 10.3
25 retinitis pigmentosa 7 10.3
26 butterfly-shaped pigment dystrophy 10.3
27 cerebral artery occlusion 10.2
28 patent ductus arteriosus 1 10.2
29 choroidal dystrophy, central areolar 2 10.2
30 alcohol dependence 10.2
31 ischemia 10.2
32 cone-rod dystrophy 2 10.2
33 retinal detachment 10.2
34 macular dystrophy, vitelliform, 3 10.2
35 respiratory failure 10.2
36 48,xyyy 10.2
37 attention deficit-hyperactivity disorder 10.1
38 vitelliform macular dystrophy 10.1
39 newborn respiratory distress syndrome 10.1
40 myeloma, multiple 10.1
41 pneumothorax 10.1
42 fundus albipunctatus 10.0
43 helix syndrome 10.0
44 kidney disease 10.0
45 b-cell lymphoma 10.0
46 night blindness 10.0
47 soft tissue sarcoma 10.0
48 colorectal cancer 10.0
49 enterocolitis 10.0
50 immune deficiency disease 10.0

Graphical network of the top 20 diseases related to Radin Blood Group Antigen:



Diseases related to Radin Blood Group Antigen

Symptoms & Phenotypes for Radin Blood Group Antigen

Human phenotypes related to Radin Blood Group Antigen:

31
# Description HPO Frequency HPO Source Accession
1 abnormal immunoglobulin level 31 HP:0010701

Clinical features from OMIM:

111620

Drugs & Therapeutics for Radin Blood Group Antigen

Search Clinical Trials , NIH Clinical Center for Radin Blood Group Antigen

Genetic Tests for Radin Blood Group Antigen

Anatomical Context for Radin Blood Group Antigen

Publications for Radin Blood Group Antigen

Articles related to Radin Blood Group Antigen:

# Title Authors PMID Year
1
Scianna antigens including Rd are expressed by ERMAP. 56 6
12393480 2003
2
The position of the Radin blood group locus in relation to other chromosome l loci. 56
6459052 1980
3
Genetic linkage between the Radin and Rh blood group loci. 56
118583 1979
4
A "new" infrequent red cell antigen, Rd (radin). 56
6069618 1967

Variations for Radin Blood Group Antigen

ClinVar genetic disease variations for Radin Blood Group Antigen:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERMAP NM_001017922.2(ERMAP):c.178C>G (p.Pro60Ala)SNV Affects 1917 rs56136737 1:43296531-43296531 1:42830860-42830860

Expression for Radin Blood Group Antigen

Search GEO for disease gene expression data for Radin Blood Group Antigen.

Pathways for Radin Blood Group Antigen

GO Terms for Radin Blood Group Antigen

Sources for Radin Blood Group Antigen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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