MCID: OKT001
MIFTS: 16

Okt4 Epitope Deficiency

Categories: Genetic diseases

Aliases & Classifications for Okt4 Epitope Deficiency

MalaCards integrated aliases for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 58 30 13 6 41 74
T4 Epitope Deficiency 58

Classifications:



External Ids:

OMIM 58 613949
MedGen 43 C3151379
UMLS 74 C3151379

Summaries for Okt4 Epitope Deficiency

MalaCards based summary : Okt4 Epitope Deficiency, also known as t4 epitope deficiency, is related to psoriasis 7 and psoriasis 11. An important gene associated with Okt4 Epitope Deficiency is CD4 (CD4 Molecule). Affiliated tissues include t cells, and related phenotype is abnormal t cell morphology.

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 7 10.1
2 psoriasis 11 10.1
3 psoriasis 13 10.1
4 leukemia 10.1
5 acquired immunodeficiency syndrome 10.1
6 collagen disease 10.1
7 psoriasis 10.1

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



Diseases related to Okt4 Epitope Deficiency

Symptoms & Phenotypes for Okt4 Epitope Deficiency

Human phenotypes related to Okt4 Epitope Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 abnormal t cell morphology 33 HP:0002843

Clinical features from OMIM:

613949

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 30 CD4

Anatomical Context for Okt4 Epitope Deficiency

MalaCards organs/tissues related to Okt4 Epitope Deficiency:

42
T Cells

Publications for Okt4 Epitope Deficiency

Articles related to Okt4 Epitope Deficiency:

(show all 15)
# 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
[OKT4 epitope deficiency in collagen disease patients]. ( 7684165 )
1993
5
Single amino acid substitution in the V3 domain of CD4 is responsible for OKT4 epitope deficiency. ( 1716607 )
1991
6
[Genetic, immunological and functional studies on lymphocytes with OKT4-epitope deficiency]. ( 1711311 )
1991
7
Adult T-cell leukaemia in patients with OKT4 epitope deficiency. ( 1722995 )
1991
8
Humans with OKT4-epitope deficiency have a single nucleotide base change in the CD4 gene, resulting in substitution of TRP240 for ARG240. ( 1708753 )
1991
9
HTLV-1-associated myelopathy (HAM) with OKT4 epitope deficiency. ( 1695810 )
1990
10
OKT4 epitope deficiency and symptomatic immune impairment. ( 2475146 )
1989
11
OKT4 epitope deficiency and acquired immunodeficiency syndrome (AIDS) ( 2447851 )
1988
12
OKT4 epitope deficiency as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection. ( 2968445 )
1988
13
OKT4 epitope deficiency in a patient with acute myeloblastic leukemia. ( 2960246 )
1987
14
OKT4 epitope deficiency in significant proportions of the black population. A cause for underestimation of helper/suppressor lymphocyte ratios. ( 2425775 )
1986
15
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
2 CD4 NM_000616.4(CD4): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs28919570 GRCh38 Chromosome 12, 6816241: 6816241

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
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
Content
Loading form....