MCID: MD1001
MIFTS: 10

Med12-Related Disorders

Aliases & Classifications for Med12-Related Disorders

MalaCards integrated aliases for Med12-Related Disorders:

Name: Med12-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is presumed to be 100% in males with med12 pathogenic variants associated with fgs1, ls, and xlos. med12 pathogenic variants associated with fgs1, ls, and xlos have not been reported in unaffected males [risheg et al 2007, schwartz et al 2007, graham et al 2008, clark et al 2009, lyons et al 2009, rump et al 2011, vulto-van silfhout et al 2013, isidor et al 2014]. penetrance is presumed to be 100% in males with med12 pathogenic variants associated with nonspecific intellectual disability; however, recent reports involve unique variants, and incomplete penetrance may be identified in the future as additional families are described. affected females with variable clinical expression have been described in two families with nonspecific intellectual disability [lesca et al 2013, bouazzi et al 2015].

Summaries for Med12-Related Disorders

MalaCards based summary : Med12-Related Disorders is related to alacrima, achalasia, and mental retardation syndrome and ohdo syndrome. An important gene associated with Med12-Related Disorders is MED12 (Mediator Complex Subunit 12). Affiliated tissues include testes.

GeneReviews: NBK1676

Related Diseases for Med12-Related Disorders

Graphical network of the top 20 diseases related to Med12-Related Disorders:



Diseases related to Med12-Related Disorders

Symptoms & Phenotypes for Med12-Related Disorders

Drugs & Therapeutics for Med12-Related Disorders

Search Clinical Trials , NIH Clinical Center for Med12-Related Disorders

Genetic Tests for Med12-Related Disorders

Anatomical Context for Med12-Related Disorders

MalaCards organs/tissues related to Med12-Related Disorders:

40
Testes

Publications for Med12-Related Disorders

Articles related to Med12-Related Disorders:

(show all 41)
# Title Authors PMID Year
1
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 24
26358559 2016
2
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 24
26338144 2015
3
Next-generation sequencing in X-linked intellectual disability. 24
25649377 2015
4
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. 24
26273451 2015
5
A novel MED12 mutation associated with non-specific X-linked intellectual disability. 24
27081531 2015
6
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 24
24715367 2014
7
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24
24039113 2013
8
Mutations in MED12 cause X-linked Ohdo syndrome. 24
23395478 2013
9
Function and regulation of the Mediator complex. 24
21330129 2011
10
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 24
20507344 2011
11
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). 24
20981778 2010
12
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. 24
19938245 2009
13
A missense mutation in CASK causes FG syndrome in an Italian family. 24
19200522 2009
14
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. 24
18805826 2009
15
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. 24
18973276 2008
16
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. 24
18691967 2008
17
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 24
17704778 2007
18
Role of MED12 in transcription and human behavior. 24
17716226 2007
19
Filamin A mutation is one cause of FG syndrome. 24
17632775 2007
20
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 24
17369503 2007
21
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 24
17436253 2007
22
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 24
17334363 2007
23
Mediator modulates Gli3-dependent Sonic hedgehog signaling. 24
17000779 2006
24
The FG syndrome: report of a large Italian series. 24
16691600 2006
25
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 24
16700052 2006
26
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. 24
16283679 2005
27
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 24
12522552 2003
28
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. 24
12239712 2002
29
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. 24
11149619 2000
30
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? 24
11078572 2000
31
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. 24
10449643 1999
32
The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA). 24
10480376 1999
33
Fragile X mutation and FG syndrome-like phenotype. 24
8844090 1996
34
Two additional cases of the Ohdo blepharophimosis syndrome. 24
8279489 1993
35
A form of X-linked mental retardation with marfanoid habitus. 24
6711603 1984
36
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. 24
4365204 1974
37
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2019
38
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. 61
30006928 2018
39
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
40
MED12 related disorders. 61
24123922 2013
41
MED12-Related Disorders 61
20301719 2008

Variations for Med12-Related Disorders

Expression for Med12-Related Disorders

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Pathways for Med12-Related Disorders

GO Terms for Med12-Related Disorders

Sources for Med12-Related Disorders

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