MCID: OKT001
MIFTS: 13

Okt4 Epitope Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Okt4 Epitope Deficiency

About this section

Aliases & Descriptions for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 52 27 12 68

Classifications:



External Ids:

OMIM52 613949

Summaries for Okt4 Epitope Deficiency

About this section
MalaCards based summary: Okt4 Epitope Deficiency is related to leukemia and psoriasis, and has symptoms including abnormality of t cells An important gene associated with Okt4 Epitope Deficiency is CD4 (CD4 Molecule). Affiliated tissues include t cells.

Description from OMIM:52 613949

Related Diseases for Okt4 Epitope Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1leukemia9.9
2psoriasis9.9

Symptoms & Phenotypes for Okt4 Epitope Deficiency

About this section


Clinical features from OMIM:

613949

Human phenotypes related to Okt4 Epitope Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of t cells64 HP:0002843

Drugs & Therapeutics for Okt4 Epitope Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Okt4 Epitope Deficiency

Genetic Tests for Okt4 Epitope Deficiency

About this section

Genetic tests related to Okt4 Epitope Deficiency:

id Genetic test Affiliating Genes
1 Okt4 Epitope Deficiency27

Anatomical Context for Okt4 Epitope Deficiency

About this section

MalaCards organs/tissues related to Okt4 Epitope Deficiency:

36
T cells

Publications for Okt4 Epitope Deficiency

About this section

Articles related to Okt4 Epitope Deficiency:

(show all 12)
idTitleAuthorsYear
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
Adult T-cell leukaemia in patients with OKT4 epitope deficiency. (1722995)
1991
5
Single amino acid substitution in the V3 domain of CD4 is responsible for OKT4 epitope deficiency. (1716607)
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 as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection. (2968445)
1988
9
OKT4 epitope deficiency and acquired immunodeficiency syndrome (AIDS) (2447851)
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

About this section

Clinvar genetic disease variations for Okt4 Epitope Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CD4NM_000616.4(CD4): c.793C> T (p.Arg265Trp)SNVPathogenicrs28919570GRCh37Chr 12, 6925407: 6925407

Expression for genes affiliated with Okt4 Epitope Deficiency

About this section
Search GEO for disease gene expression data for Okt4 Epitope Deficiency.

Pathways for genes affiliated with Okt4 Epitope Deficiency

About this section

GO Terms for genes affiliated with Okt4 Epitope Deficiency

About this section

Sources for Okt4 Epitope Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet