RD
MCID: RDN004
MIFTS: 19

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 57
Blood Group--Radin Antigen 57
Rd 57

Classifications:



External Ids:

OMIM 57 111620
MedGen 42 C1862204

Summaries for Radin Blood Group Antigen

OMIM : 57 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 blood group--radin antigen, 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)). Affiliated tissues include kidney, liver and tongue, and 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 100)
# Related Disease Score Top Affiliating Genes
1 respiratory distress syndrome in premature infants 12.1
2 restrictive dermopathy, lethal 11.8
3 reticular dysgenesis 11.7
4 respiratory distress syndrome, infant 11.5
5 bronchopulmonary dysplasia 11.4
6 renal hypodysplasia/aplasia 1 11.0
7 renal hypodysplasia/aplasia 2 11.0
8 refsum disease, classic 11.0
9 adult respiratory distress syndrome 11.0
10 retinal degeneration 10.5
11 retinitis 10.4
12 retinitis pigmentosa 10.4
13 leber congenital amaurosis 4 10.4
14 rhabdomyosarcoma 10.4
15 haemophilus influenzae 10.1
16 cone-rod dystrophy 2 10.0
17 fundus dystrophy 10.0
18 macular dystrophy, patterned, 1 10.0
19 retinoblastoma 10.0
20 embryonal rhabdomyosarcoma 10.0
21 butterfly-shaped pigment dystrophy 10.0
22 fundus albipunctatus 9.9
23 disorganization, mouse, homolog of 9.9
24 macular degeneration, age-related, 1 9.9
25 polycystic kidney disease 9.9
26 placenta praevia 9.9
27 kidney disease 9.9
28 retinal disease 9.9
29 burkitt lymphoma 9.7
30 hepatocellular carcinoma 9.7
31 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7
32 glioma susceptibility 1 9.7
33 diaphragmatic hernia, congenital 9.7
34 macular dystrophy, concentric annular 9.7
35 retinal detachment 9.7
36 rheumatoid arthritis 9.7
37 neural tube defects 9.7
38 tracheoesophageal fistula with or without esophageal atresia 9.7
39 acheiropody 9.7
40 stargardt disease 1 9.7
41 myeloma, multiple 9.7
42 neuroblastoma 9.7
43 polycystic kidney disease 4 with or without polycystic liver disease 9.7
44 enhanced s-cone syndrome 9.7
45 squamous cell carcinoma, head and neck 9.7
46 rett syndrome 9.7
47 blood group--swann system 9.7
48 horns in sheep 9.7
49 neural tube defects, folate-sensitive 9.7
50 cervical cancer 9.7

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

Clinical features from OMIM:

111620

Human phenotypes related to Radin Blood Group Antigen:

32
# Description HPO Frequency HPO Source Accession
1 abnormal immunoglobulin level 32 HP:0010701

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

MalaCards organs/tissues related to Radin Blood Group Antigen:

41
Kidney, Liver, Tongue, B Cells, Skeletal Muscle

Publications for Radin Blood Group Antigen

Variations for Radin Blood Group Antigen

ClinVar genetic disease variations for Radin Blood Group Antigen:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERMAP NM_001017922.1(ERMAP): c.178C> G (p.Pro60Ala) single nucleotide variant Affects rs56136737 GRCh38 Chromosome 1, 42830860: 42830860
2 ERMAP NM_001017922.1(ERMAP): c.178C> G (p.Pro60Ala) single nucleotide variant Affects rs56136737 GRCh37 Chromosome 1, 43296531: 43296531

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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