MCID: EDR001
MIFTS: 10

Eed-Related Overgrowth

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

Aliases & Classifications for Eed-Related Overgrowth

MalaCards integrated aliases for Eed-Related Overgrowth:

Name: Eed-Related Overgrowth 24

Characteristics:

GeneReviews:

24
Penetrance Because most germline eed coding variants associated with overgrowth are de novo, penetrance is expected to be high. estimates of penetrance for inherited eed coding variants are not yet available.

Classifications:



Summaries for Eed-Related Overgrowth

MalaCards based summary : Eed-Related Overgrowth is related to strabismus and cryptorchidism, unilateral or bilateral. An important gene associated with Eed-Related Overgrowth is EED (Embryonic Ectoderm Development).

GeneReviews: NBK540017

Related Diseases for Eed-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 Eed-Related Overgrowth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 strabismus 10.2
2 cryptorchidism, unilateral or bilateral 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 cohen-gibson syndrome 10.2
5 joint laxity, short stature, and myopia 10.2
6 scoliosis 10.2
7 myopia 10.2
8 mechanical strabismus 10.2
9 refractive error 10.2
10 overgrowth syndrome 10.2

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



Diseases related to Eed-Related Overgrowth

Symptoms & Phenotypes for Eed-Related Overgrowth

Drugs & Therapeutics for Eed-Related Overgrowth

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

Genetic Tests for Eed-Related Overgrowth

Anatomical Context for Eed-Related Overgrowth

Publications for Eed-Related Overgrowth

Articles related to Eed-Related Overgrowth:

(show all 13)
# Title Authors PMID Year
1
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. 24
30793471 2019
2
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. 24
29410511 2018
3
The Multiple Facets of PRC2 Alterations in Cancers. 24
27742591 2017
4
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 24
28229514 2017
5
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 24
28475857 2017
6
Novel EED mutation in patient with Weaver syndrome. 24
27868325 2017
7
EED-associated overgrowth in a second male patient. 24
27193220 2016
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
A novel mutation in EED associated with overgrowth. 24
25787343 2015
10
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. 24
25240281 2014
11
Role of the polycomb protein EED in the propagation of repressive histone marks. 24
19767730 2009
12
Rare SUZ12 variants commonly cause an overgrowth phenotype. 61
31736240 2019
13
EED-Related Overgrowth 61
30973693 2019

Variations for Eed-Related Overgrowth

Expression for Eed-Related Overgrowth

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

Pathways for Eed-Related Overgrowth

GO Terms for Eed-Related Overgrowth

Sources for Eed-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
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