Aliases & Classifications for Okt4 Epitope Deficiency

MalaCards integrated aliases for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 57 29 13 6 40 73
T4 Epitope Deficiency 57

Classifications:



External Ids:

OMIM 57 613949
MedGen 42 C3151379
UMLS 73 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. 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 2 9.9
2 psoriasis 7 9.9
3 psoriasis 11 9.9
4 psoriasis 13 9.9
5 leukemia 9.9
6 acquired immunodeficiency syndrome 9.9
7 collagen disease 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormal t cell morphology 32 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 29 CD4

Anatomical Context for Okt4 Epitope Deficiency

MalaCards organs/tissues related to Okt4 Epitope Deficiency:

41
T Cells

Publications for Okt4 Epitope Deficiency

Articles related to Okt4 Epitope Deficiency:

(show all 13)
# 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
Adult T-cell leukaemia in patients with OKT4 epitope deficiency. ( 1722995 )
1991
7
HTLV-1-associated myelopathy (HAM) with OKT4 epitope deficiency. ( 1695810 )
1990
8
OKT4 epitope deficiency and symptomatic immune impairment. ( 2475146 )
1989
9
OKT4 epitope deficiency and acquired immunodeficiency syndrome (AIDS) ( 2447851 )
1988
10
OKT4 epitope deficiency as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection. ( 2968445 )
1988
11
OKT4 epitope deficiency in a patient with acute myeloblastic leukemia. ( 2960246 )
1987
12
OKT4 epitope deficiency in significant proportions of the black population. A cause for underestimation of helper/suppressor lymphocyte ratios. ( 2425775 )
1986
13
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 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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