KEL
MCID: BLD141
MIFTS: 20

Blood Group--Kell System (KEL)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group--Kell System

MalaCards integrated aliases for Blood Group--Kell System:

Name: Blood Group--Kell System 57
Blood Group--Kell-Cellano System 57
Blood Group System, Kell 39
Kell Blood Group System 29
Blood Group, Kell 57
Kel 57

Classifications:



External Ids:

OMIM® 57 110900
MedGen 41 C0022546

Summaries for Blood Group--Kell System

OMIM® : 57 The Kell blood group system is formed by 2 disulfide-linked proteins, Kell and XK. The Kell protein is a type II membrane glycoprotein sharing sequence homology with members of the M13 family of zinc-dependent metalloproteases and possessing enzymatic activity characteristic of that group (summary by Claperon et al., 2007). The Kell blood group system is highly polymorphic, expressing over 25 antigens that have been classified in to 5 antithetical sets of high and low prevalence antigens with the others being independently expressed or having unknown antithetical partners. The different phenotypes are due to single-nucleotide mutations that result in an amino acid substitution (summary by Sha et al., 2006). See, for example, Kell (designated K or K1)/Cellano (k, K2) (T193M; 613883.0001). Yu et al. (2001) noted that the Kell antigens are the most potent immunogens aside from the A and B antigens of the ABO system (616093) and the D antigen (111680) of the Rh system (see 111700). (110900) (Updated 20-May-2021)

MalaCards based summary : Blood Group--Kell System, also known as blood group--kell-cellano system, is related to choreoacanthocytosis and chronic granulomatous disease. An important gene associated with Blood Group--Kell System is KEL (Kell Metallo-Endopeptidase (Kell Blood Group)). Affiliated tissues include monocytes, prostate and liver.

Related Diseases for Blood Group--Kell System

Graphical network of the top 20 diseases related to Blood Group--Kell System:



Diseases related to Blood Group--Kell System

Symptoms & Phenotypes for Blood Group--Kell System

Clinical features from OMIM®:

110900 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group--Kell System

Search Clinical Trials , NIH Clinical Center for Blood Group--Kell System

Genetic Tests for Blood Group--Kell System

Genetic tests related to Blood Group--Kell System:

# Genetic test Affiliating Genes
1 Kell Blood Group System 29 KEL

Anatomical Context for Blood Group--Kell System

MalaCards organs/tissues related to Blood Group--Kell System:

40
Monocytes, Prostate, Liver

Publications for Blood Group--Kell System

Articles related to Blood Group--Kell System:

(show top 50) (show all 126)
# Title Authors PMID Year
1
Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system. 61 57
16423827 2006
2
Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. 61 57
11134029 2001
3
Molecular basis of the Kell (K1) phenotype. 61 57
7849312 1995
4
Genetic evidence confirming the localization of Sutter in the Kell blood-group system. 61 57
5864817 1965
5
EVIDENCE THAT SUTTER BELONGS TO THE KELL BLOOD GROUP SYSTEM. 61 57
14316529 1965
6
The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. 57
17379193 2007
7
Review: the Kell, Duffy, and Kidd blood group systems. 57
15373667 2004
8
Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11. 57
12842980 2003
9
Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells. 57
11336649 2001
10
Estimating the recombination frequency for the PTC-Kell linkage. 57
6745938 1984
11
Possible linkages (lod score over 1.5) and a tentative map of the Jk-Km linkage group. 57
752492 1978
12
Linkage relations of the loci for Kell and phenylthiocarbamide taste sensitivity. 57
976995 1976
13
Linkage data on urinary pepsinogen and the Kell blood group. 57
1203496 1975
14
A New Human Hereditary Blood Property (Cellano) Present in 99.8% of all Bloods. 57
17814514 1949
15
Genotyping of blood groups in alloimmunized patients with β-thalassemia major by T-ARMS-PCR and multiplex-aso-pcr. 61
33221123 2021
16
Genomic analyses of KEL alleles in alloimmunized thalassemia patients from Iran. 61
32565058 2020
17
A young woman with a transfusion-related pregnancy complication. 61
31948214 2020
18
Blood Donation During Pregnancy Due to Anti-Ku Hemolytic Disease of the Fetus and Newborn. 61
31089725 2019
19
Antibody screening and identification in donors and general patients at a tertiary care teaching hospital in Western India. 61
31360008 2019
20
Pattern of distribution of 35 red cell antigens in regular voluntary blood donors of South Gujarat, India. 61
30197214 2018
21
Red blood-cell alloantibodies in multiply transfused patients in the occupied Palestinian territory: a pilot study. 61
29553439 2018
22
Anti Kpa alloantibody: Development of a rare alloantibody in a non-Hodgkin's lymphoma patient of Indian origin. 61
29563682 2018
23
Frequencies of red blood cell major blood group antigens and phenotypes in the Chinese Han population from Mainland China. 61
27320061 2016
24
Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population. 61
25156717 2015
25
Kell and Kx blood group systems. 61
26308465 2015
26
Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes. 61
25041236 2014
27
Detection and identification of red cell alloantibodies in multiply transfused thalassemia major patients: a prospective study. 61
25435730 2014
28
Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients. 61
25161344 2014
29
A novel XK gene mutation in a Taiwanese family with McLeod syndrome. 61
24635891 2014
30
Evans syndrome in a pediatric liver transplant recipient with an autoantibody with apparent specificity for the KEL4 (Kpb) antigen. 61
25238239 2014
31
Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma. 61
23550721 2013
32
Expansion of the Kell blood group system: two new high-prevalence antigens and two novel K0 (Kellnull ) phenotypes. 61
23968329 2013
33
Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI. 61
23560718 2013
34
Three novel alleles in the Kell blood group system resulting in the Knull phenotype and the first in a Native American. 61
23581548 2013
35
Resolution of translation start site for the human Kell glycoprotein. 61
23721226 2013
36
[Rare blood donors with irregular antibodies]. 61
24069817 2013
37
An easy and efficient strategy for KEL genotyping in a multiethnic population. 61
23741186 2013
38
Late onset neonatal anaemia due to maternal anti-Kp(b) induced haemolytic disease of the newborn. 61
23089052 2012
39
Solving the dilemma of prevention of red cell alloimmunization. 61
23046234 2012
40
Alloimmunization to Kell blood group system antigen owing to unmatched blood transfusion in a resource-poor setting. 61
23286520 2012
41
EDTA glycine acid treatment of red blood cells. 61
23286556 2012
42
Kell blood group system polymorphism in an urban Tunisian population. 61
21221759 2011
43
Possible suppression of fetal erythropoiesis by the Kell blood group antibody anti-Kp(a). 61
22356520 2011
44
Phenotype frequencies of blood group systems (Rh, Kell, Kidd, Duffy, MNS, P, Lewis, and Lutheran) in north Indian blood donors. 61
20558108 2010
45
KEL*02 alleles with alterations in and around exon 8 in individuals with apparent KEL:1,-2 phenotypes. 61
20384970 2010
46
[Kell blood group system]. 61
20942182 2010
47
A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3. 61
19347978 2009
48
Transfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and Km. 61
18167163 2008
49
[Analysis of Kell blood group system using polymerase chain reaction-restriction fragment-single strand conformation polymorphism combined with heteroduplex in Chinese]. 61
17407078 2007
50
Molecular basis of two novel high-prevalence antigens in the Kell blood group system, KALT and KTIM. 61
16934067 2006

Variations for Blood Group--Kell System

Expression for Blood Group--Kell System

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Pathways for Blood Group--Kell System

GO Terms for Blood Group--Kell System

Sources for Blood Group--Kell System

3 CDC
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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