MCID: EZH001
MIFTS: 9

Ezh2-Related Overgrowth

Aliases & Classifications for Ezh2-Related Overgrowth

MalaCards integrated aliases for Ezh2-Related Overgrowth:

Name: Ezh2-Related Overgrowth 24

Characteristics:

GeneReviews:

24
Penetrance Data are currently insufficient to determine penetrance of ezh2 germline pathogenic variants. however, given the subtlety of the phenotype in some persons with a pathogenic ezh2 variant, the penetrance for some ezh2 pathogenic variants may be reduced [tatton-brown et al 2013].

Summaries for Ezh2-Related Overgrowth

MalaCards based summary : Ezh2-Related Overgrowth is related to weaver syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Ezh2-Related Overgrowth is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit). Affiliated tissues include b cells and myeloid.

GeneReviews: NBK148820

Related Diseases for Ezh2-Related Overgrowth

Diseases related to Ezh2-Related Overgrowth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weaver syndrome 10.3
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 scoliosis 10.3
4 umbilical hernia 10.3
5 learning disability 10.3
6 hypotonia 10.3
7 overgrowth syndrome 10.3

Graphical network of the top 20 diseases related to Ezh2-Related Overgrowth:



Diseases related to Ezh2-Related Overgrowth

Symptoms & Phenotypes for Ezh2-Related Overgrowth

Drugs & Therapeutics for Ezh2-Related Overgrowth

Search Clinical Trials , NIH Clinical Center for Ezh2-Related Overgrowth

Genetic Tests for Ezh2-Related Overgrowth

Anatomical Context for Ezh2-Related Overgrowth

MalaCards organs/tissues related to Ezh2-Related Overgrowth:

41
B Cells, Myeloid

Publications for Ezh2-Related Overgrowth

Articles related to Ezh2-Related Overgrowth:

(show all 28)
# Title Authors PMID Year
1
Further delineation of Malan syndrome. 4
29897170 2018
2
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 4
29244146 2018
3
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 4
29900417 2018
4
The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability. 4
28696078 2017
5
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 4
28229514 2017
6
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. 4
26762561 2016
7
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. 4
26694085 2016
8
Timing, rates and spectra of human germline mutation. 4
26656846 2016
9
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 4
25118028 2015
10
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. 4
24924640 2014
11
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 4
24614070 2014
12
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 4
24214728 2013
13
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. 4
23606591 2013
14
Structure of the catalytic domain of EZH2 reveals conformational plasticity in cofactor and substrate binding sites and explains oncogenic mutations. 4
24367611 2013
15
Weaver syndrome and defective cortical development: a rare association. 4
23239504 2013
16
Mutations in EZH2 cause Weaver syndrome. 4
22177091 2012
17
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 4
22190405 2011
18
Aberrations of EZH2 in cancer. 4
21367748 2011
19
Coordinated activities of wild-type plus mutant EZH2 drive tumor-associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas. 4
21078963 2010
20
Beckwith-Wiedemann syndrome. 4
20803657 2010
21
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 4
20673863 2010
22
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. 4
20081860 2010
23
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 4
15942875 2005
24
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 4
12464997 2003
25
Role of histone H3 lysine 27 methylation in Polycomb-group silencing. 4
12351676 2002
26
A new X-linked mental retardation-overgrowth syndrome. 4
6538755 1984
27
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. 4
4366187 1974
28
EZH2-Related Overgrowth 38
23865096 2013

Variations for Ezh2-Related Overgrowth

Expression for Ezh2-Related Overgrowth

Search GEO for disease gene expression data for Ezh2-Related Overgrowth.

Pathways for Ezh2-Related Overgrowth

GO Terms for Ezh2-Related Overgrowth

Sources for Ezh2-Related Overgrowth

3 CDC
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62 PubMed
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69 SNOMED-CT via HPO
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71 Tocris
72 UMLS
73 UMLS via Orphanet
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