MED23
MCID: MD2001
MIFTS: 29

Med23 (MED23)

Categories: Rare diseases
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Aliases & Classifications for Med23

MalaCards integrated aliases for Med23:

Name: Med23 19 75
Intellectual Disability, Autosomal Recessive 18 19 28 5
Autosomal Recessive Nonsyndromic Intellectual Disability-18 19

Classifications:



Summaries for Med23

GARD: 19 MED23 is a gene that plays a role in brain development. Genetic changes in MED23 cause difficulty swallowing, screaming spells, reflux, and gastrointestinal problems in infants. Children with MED23 genetic changes have profound learning and developmental delays impairing muscle control, mobility, communication, and speech. MED23 genetic changes do not cause changes in growth or physical appearance. MED23 is inherited in an autosomal recessive fashion.

MalaCards based summary: Med23, also known as intellectual disability, autosomal recessive 18, is related to opitz-kaveggia syndrome and intellectual developmental disorder, autosomal recessive 18, with or without epilepsy. An important gene associated with Med23 is MED23 (Mediator Complex Subunit 23), and among its related pathways/superpathways are Nervous system development and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include brain, smooth muscle and t cells, and related phenotypes are embryo and cellular

Related Diseases for Med23

Graphical network of the top 20 diseases related to Med23:



Diseases related to Med23

Symptoms & Phenotypes for Med23

MGI Mouse Phenotypes related to Med23:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 CCNC CDK8 MED23 MED28
2 cellular MP:0005384 9.02 CCNC CDK8 CEBPB MED23 MED28

Drugs & Therapeutics for Med23

Genetic Tests for Med23

Genetic tests related to Med23:

# Genetic test Affiliating Genes
1 Intellectual Disability, Autosomal Recessive 18 28 MED23

Anatomical Context for Med23

Organs/tissues related to Med23:

MalaCards : Brain, Smooth Muscle, T Cells, Breast, Adipocyte, Lung, Liver

Publications for Med23

Articles related to Med23:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. 62 5
30847200 2019
2
MED23-associated refractory epilepsy successfully treated with the ketogenic diet. 62 5
27311965 2016
3
MED23-associated intellectual disability in a non-consanguineous family. 62 5
25845469 2015
4
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. 62 5
21868677 2011
5
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 5
30171209 2020
6
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. 5
31164858 2019
7
Interrupting specific hydrogen bonds between ELF3 and MED23 as an alternative drug resistance-free strategy for HER2-overexpressing cancers. 62
35963541 2022
8
Integration of radiogenomic features for early prediction of pathological complete response in patients with triple-negative breast cancer and identification of potential therapeutic targets. 62
35672824 2022
9
CAPTURE of the Human U2 snRNA Genes Expands the Repertoire of Associated Factors. 62
35625631 2022
10
Med23 supports angiogenesis and maintains vascular integrity through negative regulation of angiopoietin2 expression. 62
35440711 2022
11
Network Meta-Analysis of Chicken Microarray Data following Avian Influenza Challenge-A Comparison of Highly and Lowly Pathogenic Strains. 62
35327988 2022
12
Identification of Therapeutic Targets and Prognostic Biomarkers among Genes from the Mediator Complex Family in the Hepatocellular Carcinoma Tumour-Immune Microenvironment. 62
35069777 2022
13
Insulin signaling establishes a developmental trajectory of adipose regulatory T cells. 62
34429546 2021
14
Mediator Med23 deficiency in smooth muscle cells prevents neointima formation after arterial injury. 62
34341334 2021
15
Med23 Regulates Sox9 Expression during Craniofacial Development. 62
33155500 2021
16
ELF3 activated by a superenhancer and an autoregulatory feedback loop is required for high-level HLA-C expression on extravillous trophoblasts. 62
33622787 2021
17
Genetic background of ataxia in children younger than 5 years in Finland. 62
32637629 2020
18
The Mediator CDK8-Cyclin C complex modulates Dpp signaling in Drosophila by stimulating Mad-dependent transcription. 62
32463833 2020
19
Analysis of the microarray gene expression for breast cancer progression after the application modified logistic regression. 62
31759986 2020
20
Impaired Innate Immunity Mechanisms in the Brain of Alzheimer's Disease. 62
32046242 2020
21
The Mediator Subunit, Med23 Is Required for Embryonic Survival and Regulation of Canonical WNT Signaling During Cranial Ganglia Development. 62
33192541 2020
22
Mediator Med23 Regulates Adult Hippocampal Neurogenesis. 62
32850819 2020
23
Mediator MED23 regulates inflammatory responses and liver fibrosis. 62
31805036 2019
24
Increasing evidence of pathogenic role of the Mediator (MED) complex in the development of cardiovascular diseases. 62
31255603 2019
25
Whole-genome resequencing to identify candidate genes for the QTL for oleic acid percentage in Japanese Black cattle. 62
30780197 2019
26
Combined transcriptomics and proteomics forecast analysis for potential genes regulating the Columbian plumage color in chickens. 62
31693656 2019
27
Last-Generation Genome-Environment Associations Reveal the Genetic Basis of Heat Tolerance in Common Bean (Phaseolus vulgaris L.). 62
31824551 2019
28
Proteomic Interactome of C. elegans Mediator Complex Subunit 28 (MDT-28) Reveals Predominant Association with a Restricted Set of Core Mediator Subunits and an Affinity to Additional Structural and Enzymatic Proteins. 62
32362303 2019
29
Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels. 62
31192134 2019
30
Med23 serves as a gatekeeper of the myeloid potential of hematopoietic stem cells. 62
30218073 2018
31
Regulation of the terminal maturation of iNKT cells by mediator complex subunit 23. 62
30250136 2018
32
Crystal structure of human Mediator subunit MED23. 62
30140054 2018
33
Transcriptome Analysis of Four Arabidopsis thaliana Mediator Tail Mutants Reveals Overlapping and Unique Functions in Gene Regulation. 62
30049745 2018
34
Integration of EGFR and LIN-12/Notch Signaling by LIN-1/Elk1, the Cdk8 Kinase Module, and SUR-2/Med23 in Vulval Precursor Cell Fate Patterning in Caenorhabditis elegans. 62
28954762 2017
35
Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis. 62
29203634 2017
36
Splicing regulators in endothelial cell differentiation. 62
28661931 2017
37
Mediator MED23 Links Pigmentation and DNA Repair through the Transcription Factor MITF. 62
28834744 2017
38
Differing roles for sur-2/MED23 in C. elegans and C. briggsae vulval development. 62
28220250 2017
39
MED23 in endocrinotherapy for breast cancer. 62
28588722 2017
40
Modulation of Immune Responses to Herpes Simplex Virus Type 1 by IFNL3 and IRF7 Polymorphisms: A Study in Alzheimer's Disease. 62
28984602 2017
41
Effect of l-arginine, asymmetric dimethylarginine, and symmetric dimethylarginine on ischemic heart disease risk: A Mendelian randomization study. 62
27914500 2016
42
Multiple P-TEFbs cooperatively regulate the release of promoter-proximally paused RNA polymerase II. 62
27353326 2016
43
BET Bromodomain Inhibition Releases the Mediator Complex from Select cis-Regulatory Elements. 62
27068464 2016
44
Mediator MED23 cooperates with RUNX2 to drive osteoblast differentiation and bone development. 62
27033977 2016
45
MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations. 62
26899600 2016
46
The Mediator subunit MED23 couples H2B mono-ubiquitination to transcriptional control and cell fate determination. 62
26330467 2015
47
MED23: a new Mediator of H2B monoubiquitylation. 62
26438725 2015
48
Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. 62
26152846 2015
49
Mediator subunit 23 overexpression as a novel target for suppressing proliferation and tumorigenesis in hepatocellular carcinoma. 62
25684393 2015
50
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. 62
25527630 2015

Variations for Med23

ClinVar genetic disease variations for Med23:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED23 NM_004830.4(MED23):c.2832dup (p.Val945fs) DUP Pathogenic
1032717 rs771485728 GRCh37: 6:131917249-131917250
GRCh38: 6:131596109-131596110
2 MED23 NM_004830.4(MED23):c.506A>G (p.Tyr169Cys) SNV Pathogenic
1327487 GRCh37: 6:131941859-131941859
GRCh38: 6:131620719-131620719
3 MED23 NM_004830.4(MED23):c.382G>A (p.Gly128Arg) SNV Pathogenic
1327489 GRCh37: 6:131944505-131944505
GRCh38: 6:131623365-131623365
4 MED23 NM_004830.4(MED23):c.539C>A (p.Ala180Asp) SNV Pathogenic
1327490 GRCh37: 6:131941826-131941826
GRCh38: 6:131620686-131620686
5 MED23 NM_004830.4(MED23):c.1919A>G (p.Gln640Arg) SNV Pathogenic
1327491 GRCh37: 6:131924182-131924182
GRCh38: 6:131603042-131603042
6 MED23 NM_004830.4(MED23):c.670C>G (p.Arg224Gly) SNV Pathogenic
437437 rs1293450628 GRCh37: 6:131939657-131939657
GRCh38: 6:131618517-131618517
7 MED23 NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) SNV Pathogenic
30442 rs370667926 GRCh37: 6:131924269-131924269
GRCh38: 6:131603129-131603129
8 MED23 NM_004830.4(MED23):c.3638A>G (p.His1213Arg) SNV Pathogenic
143192 rs527236035 GRCh37: 6:131912501-131912501
GRCh38: 6:131591361-131591361
9 MED23 NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) SNV Pathogenic
143193 rs527236036 GRCh37: 6:131908938-131908938
GRCh38: 6:131587798-131587798
10 MED23 NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) SNV Likely Pathogenic
620500 rs769471341 GRCh37: 6:131914191-131914191
GRCh38: 6:131593051-131593051
11 MED23 NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) MICROSAT Likely Pathogenic
559910 rs760262127 GRCh37: 6:131919751-131919754
GRCh38: 6:131598611-131598614
12 MED23 NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) SNV Likely Pathogenic
802270 rs766478634 GRCh37: 6:131908944-131908944
GRCh38: 6:131587804-131587804
13 MED23 NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) SNV Likely Pathogenic
1029420 rs1775982467 GRCh37: 6:131929108-131929108
GRCh38: 6:131607968-131607968
14 MED23 NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) SNV Uncertain Significance
1032715 rs1775354988 GRCh37: 6:131921222-131921222
GRCh38: 6:131600082-131600082
15 MED23 NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) SNV Uncertain Significance
1033382 rs146599947 GRCh37: 6:131912573-131912573
GRCh38: 6:131591433-131591433
16 MED23 NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) SNV Uncertain Significance
1033383 rs751590798 GRCh37: 6:131908946-131908946
GRCh38: 6:131587806-131587806
17 MED23 NM_004830.4(MED23):c.367C>T (p.Arg123Trp) SNV Uncertain Significance
547915 rs374403178 GRCh37: 6:131944520-131944520
GRCh38: 6:131623380-131623380
18 MED23 NM_004830.4(MED23):c.4080G>T (p.Val1360=) SNV Uncertain Significance
432201 rs138742804 GRCh37: 6:131908846-131908846
GRCh38: 6:131587706-131587706
19 MED23 NM_004830.4(MED23):c.1708T>G (p.Leu570Val) SNV Uncertain Significance
1030847 rs1775691162 GRCh37: 6:131925366-131925366
GRCh38: 6:131604226-131604226
20 MED23 NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) SNV Uncertain Significance
1699040 GRCh37: 6:131915473-131915473
GRCh38: 6:131594333-131594333
21 MED23 NM_004830.4(MED23):c.235C>T (p.Leu79Phe) SNV Uncertain Significance
211484 rs151031376 GRCh37: 6:131946054-131946054
GRCh38: 6:131624914-131624914
22 ARG1, MED23 NM_000045.4(ARG1):c.270C>T (p.Asn90_Gly91=) SNV Benign
136419 rs34504481 GRCh37: 6:131900390-131900390
GRCh38: 6:131579250-131579250
23 MED23 NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) SNV Not Provided
441025 rs1416942996 GRCh37: 6:131919705-131919705
GRCh38: 6:131598565-131598565
24 MED23 NM_004830.4(MED23):c.224del (p.Arg75fs) DEL Not Provided
1327414 GRCh37: 6:131946065-131946065
GRCh38: 6:131624925-131624925

Expression for Med23

Search GEO for disease gene expression data for Med23.

Pathways for Med23

Pathways related to Med23 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 MED28 MED23 CEBPB CDK8 CCNC
2
Show member pathways
12.33 MED23 CDK8 CCNC
3
Show member pathways
11.53 MED28 MED23 CEBPB CDK8 CCNC
4
Show member pathways
11.32 CDK8 CCNC
5 10.66 CDK8 CCNC

GO Terms for Med23

Cellular components related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 core mediator complex GO:0070847 9.26 MED28 MED23
2 mediator complex GO:0016592 9.23 MED28 MED23 CDK8 CCNC

Biological processes related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II preinitiation complex assembly GO:0051123 9.46 MED28 MED23
2 positive regulation of transcription initiation by RNA polymerase II GO:0060261 9.26 MED28 MED23
3 positive regulation of transcription elongation by RNA polymerase II GO:0032968 8.92 MED28 MED23

Sources for Med23

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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