KEL
MCID: BLD141
MIFTS: 16

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 40
Kell Blood Group System 29
Blood Group, Kell 57
Kell Blood Group 13
Kel 57

Classifications:



External Ids:

OMIM 57 110900

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)

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 prostate.

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 16)
# Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 11.2
2 chronic granulomatous disease 11.2
3 granulomatous disease, chronic, x-linked 11.2
4 fetal erythroblastosis 11.2
5 choreatic disease 11.2
6 lingual-facial-buccal dyskinesia 11.2
7 colorectal adenoma 10.7
8 hemoglobinopathy 10.3
9 mcleod syndrome 10.2
10 prostate cancer 10.1
11 keratosis pilaris atrophicans 10.1
12 alpha-thalassemia 10.1
13 granulomatosis with polyangiitis 10.1
14 thalassemia 10.1
15 anemia, autoimmune hemolytic 10.0
16 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 29 KEL

Anatomical Context for Blood Group--Kell System

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

41
Prostate

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 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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