MCID: OKT001
MIFTS: 13

Okt4 Epitope Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Okt4 Epitope Deficiency

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Aliases & Descriptions for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 50 25 12 66

Classifications:



External Ids:

OMIM50 613949

Summaries for Okt4 Epitope Deficiency

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MalaCards based summary: Okt4 Epitope Deficiency is related to leukemia and acquired immunodeficiency syndrome, 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:50 613949

Related Diseases for Okt4 Epitope Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1leukemia10.0
2acquired immunodeficiency syndrome10.0
3psoriasis10.0

Symptoms for Okt4 Epitope Deficiency

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Clinical features from OMIM:

613949

HPO human phenotypes related to Okt4 Epitope Deficiency:

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

Drugs & Therapeutics for Okt4 Epitope Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Okt4 Epitope Deficiency

Genetic Tests for Okt4 Epitope Deficiency

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Genetic tests related to Okt4 Epitope Deficiency:

id Genetic test Affiliating Genes
1 Okt4 Epitope Deficiency25

Anatomical Context for Okt4 Epitope Deficiency

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MalaCards organs/tissues related to Okt4 Epitope Deficiency:

34
T cells

Animal Models for Okt4 Epitope Deficiency or affiliated genes

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Publications for Okt4 Epitope Deficiency

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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

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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)single nucleotide variantPathogenicrs28919570GRCh37Chr 12, 6925407: 6925407

Expression for genes affiliated with Okt4 Epitope Deficiency

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

Pathways for genes affiliated with Okt4 Epitope Deficiency

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GO Terms for genes affiliated with Okt4 Epitope Deficiency

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Sources for Okt4 Epitope Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet