Aliases & Classifications for Okt4 Epitope Deficiency

MalaCards integrated aliases for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 53 28 13 69
T4 Epitope Deficiency 53

Classifications:



External Ids:

OMIM 53 613949
MedGen 39 C3151379
UMLS 69 C3151379

Summaries for Okt4 Epitope Deficiency

MalaCards based summary : Okt4 Epitope Deficiency, also known as t4 epitope deficiency, is related to psoriasis 2 and psoriasis 7, and has symptoms including abnormal t cell morphology An important gene associated with Okt4 Epitope Deficiency is CD4 (CD4 Molecule). Affiliated tissues include t cells.

Description from OMIM: 613949

Related Diseases for Okt4 Epitope Deficiency

Diseases related to Okt4 Epitope Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 psoriasis 2 9.9
2 psoriasis 7 9.9
3 psoriasis 11 9.9
4 psoriasis 13 9.9
5 leukemia 9.9
6 pustulosis of palm and sole 9.9
7 acquired immunodeficiency syndrome 9.9
8 psoriasis 9.9

Graphical network of the top 20 diseases related to Okt4 Epitope Deficiency:



Diseases related to Okt4 Epitope Deficiency

Symptoms & Phenotypes for Okt4 Epitope Deficiency

Clinical features from OMIM:

613949

Human phenotypes related to Okt4 Epitope Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormal t cell morphology 31 HP:0002843

Drugs & Therapeutics for Okt4 Epitope Deficiency

Search Clinical Trials , NIH Clinical Center for Okt4 Epitope Deficiency

Genetic Tests for Okt4 Epitope Deficiency

Genetic tests related to Okt4 Epitope Deficiency:

# Genetic test Affiliating Genes
1 Okt4 Epitope Deficiency 28 CD4

Anatomical Context for Okt4 Epitope Deficiency

MalaCards organs/tissues related to Okt4 Epitope Deficiency:

38
T Cells

Publications for Okt4 Epitope Deficiency

Articles related to Okt4 Epitope Deficiency:

(show all 12)
# Title Authors Year
1
Primary SjAPgren's syndrome and psoriasis vulgaris in a case of OKT4 epitope deficiency. ( 7541811 )
1995
2
OKT4 epitope deficiency in patients infected with the human immunodeficiency virus: a cause of underestimation of the CD4 lymphocyte count. ( 7534484 )
1994
3
Flow cytometry analysis of OKT4 epitope deficiency in South African black children. ( 7527746 )
1994
4
Single amino acid substitution in the V3 domain of CD4 is responsible for OKT4 epitope deficiency. ( 1716607 )
1991
5
Adult T-cell leukaemia in patients with OKT4 epitope deficiency. ( 1722995 )
1991
6
HTLV-1-associated myelopathy (HAM) with OKT4 epitope deficiency. ( 1695810 )
1990
7
OKT4 epitope deficiency and symptomatic immune impairment. ( 2475146 )
1989
8
OKT4 epitope deficiency and acquired immunodeficiency syndrome (AIDS) ( 2447851 )
1988
9
OKT4 epitope deficiency as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection. ( 2968445 )
1988
10
OKT4 epitope deficiency in a patient with acute myeloblastic leukemia. ( 2960246 )
1987
11
OKT4 epitope deficiency in significant proportions of the black population. A cause for underestimation of helper/suppressor lymphocyte ratios. ( 2425775 )
1986
12
Familial OKT4 epitope deficiency: studies on antigen density and lymphocyte function. ( 2411456 )
1985

Variations for Okt4 Epitope Deficiency

ClinVar genetic disease variations for Okt4 Epitope Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD4 NM_000616.4(CD4): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs28919570 GRCh37 Chromosome 12, 6925407: 6925407

Expression for Okt4 Epitope Deficiency

Search GEO for disease gene expression data for Okt4 Epitope Deficiency.

Pathways for Okt4 Epitope Deficiency

GO Terms for Okt4 Epitope Deficiency

Sources for Okt4 Epitope Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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