MCID: EZH001
MIFTS: 12

Ezh2-Related Overgrowth

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

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].

Classifications:



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 in the Overgrowth Syndrome family:

Eed-Related Overgrowth Ezh2-Related Overgrowth
Pik3ca-Related Overgrowth Spectrum Pik3ca-Related Overgrowth Syndrome

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:

40
B Cells, Myeloid

Publications for Ezh2-Related Overgrowth

Articles related to Ezh2-Related Overgrowth:

(show all 29)
# Title Authors PMID Year
1
Further delineation of Malan syndrome. 24
29897170 2018
2
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 24
29244146 2018
3
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 24
29900417 2018
4
The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability. 24
28696078 2017
5
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 24
28229514 2017
6
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. 24
26762561 2016
7
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. 24
26694085 2016
8
Timing, rates and spectra of human germline mutation. 24
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. 24
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. 24
24924640 2014
11
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24
24614070 2014
12
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24
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. 24
23606591 2013
14
Weaver syndrome and defective cortical development: a rare association. 24
23239504 2013
15
Structure of the catalytic domain of EZH2 reveals conformational plasticity in cofactor and substrate binding sites and explains oncogenic mutations. 24
24367611 2013
16
Mutations in EZH2 cause Weaver syndrome. 24
22177091 2012
17
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 24
22190405 2011
18
Aberrations of EZH2 in cancer. 24
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. 24
21078963 2010
20
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 24
20673863 2010
21
Beckwith-Wiedemann syndrome. 24
20803657 2010
22
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. 24
20081860 2010
23
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. 24
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. 24
12464997 2003
25
Role of histone H3 lysine 27 methylation in Polycomb-group silencing. 24
12351676 2002
26
A new X-linked mental retardation-overgrowth syndrome. 24
6538755 1984
27
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. 24
4366187 1974
28
Rare SUZ12 variants commonly cause an overgrowth phenotype. 61
31736240 2019
29
EZH2-Related Overgrowth 61
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....