MCID: OKT001
MIFTS: 17

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 49 11 24 65

Classifications:



External Ids:

OMIM49 613949
UMLS65 C3151379

Summaries for Okt4 Epitope Deficiency

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MalaCards based summary: Okt4 Epitope Deficiency is related to tay-sachs disease and hemochromatosis, and has symptoms including abnormality of t cells An important gene associated with Okt4 Epitope Deficiency is CD4 (CD4 Molecule). Affiliated tissues include bone, t cells and thyroid.

Description from OMIM:49 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
1tay-sachs disease10.3
2hemochromatosis10.3
3lennox-gastaut syndrome10.3
4head and neck carcinoma10.3
5retinitis10.3
6retinal disease10.3
7sarcomatosis10.3

Graphical network of diseases related to Okt4 Epitope Deficiency:



Diseases related to okt4 epitope deficiency

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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Anatomical Context for Okt4 Epitope Deficiency

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MalaCards organs/tissues related to Okt4 Epitope Deficiency:

33
Bone, T cells, Thyroid, Bone marrow, Brain, Endothelial

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
A 4-MicroRNA signature can discriminate primary lymphomas from anaplastic carcinomas in thyroid cytology smears. (24327568)
2014
2
Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy. (24013457)
2012
3
Human brucellosis, Inner Mongolia, China. (21122244)
2010
4
Rational design, synthesis and characterization of potent, non-peptidic Smac mimics/XIAP inhibitors as proapoptotic agents for cancer therapy. (19620011)
2009
5
Towards Participatory Geographic Information Systems for community-based environmental decision making. (18550264)
2009
6
Rac1-dependent transcriptional up-regulation of p27Kip1 by homophilic cell-cell contact in vascular endothelial cells. (17868934)
2007
7
The duodenal mucosal bicarbonate secretion. (16075893)
2005
8
Intercellular transfer of the cellular prion protein. (12359724)
2002
9
Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (11074001)
2000
10
Regulation of protease nexin-1 synthesis and secretion in cultured brain cells by injury-related factors. (8429047)
1993
11
Efficient transfection and expression of heterologous genes in PC12 cells. (2187480)
1990
12
Respiratory insufficiency associated with acute hepatic porphyria. (2635211)
1989

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet