KEL
MCID: BLD141
MIFTS: 15

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 58
Blood Group--Kell-Cellano System 58
Blood Group System, Kell 41
Kell Blood Group System 30
Blood Group, Kell 58
Kell Blood Group 13
Kel 58

Classifications:



External Ids:

OMIM 58 110900

Summaries for Blood Group--Kell System

OMIM : 58 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)

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)).

Related Diseases for Blood Group--Kell System

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 11.3
2 chronic granulomatous disease 11.3
3 granulomatous disease, chronic, x-linked 11.2
4 fetal erythroblastosis 11.2
5 colorectal adenoma 10.7
6 hemoglobinopathy 10.3
7 mcleod syndrome 10.2
8 prostate cancer 10.2
9 alpha-thalassemia 10.1
10 granulomatosis with polyangiitis 10.1
11 thalassemia 10.1
12 keratosis pilaris atrophicans 10.1
13 anemia, autoimmune hemolytic 10.0
14 hemolytic anemia 10.0

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

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 30 KEL

Anatomical Context for Blood Group--Kell System

Publications for Blood Group--Kell System

Articles related to Blood Group--Kell System:

# Title Authors Year
1
The Kell blood group system: Kell and XK membrane proteins. ( 10791880 )
2000

Variations for Blood Group--Kell System

Expression for Blood Group--Kell System

Search GEO for disease gene expression data for Blood Group--Kell System.

Pathways for Blood Group--Kell System

GO Terms for Blood Group--Kell System

Sources for Blood Group--Kell System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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