MCID: ERY043
MIFTS: 22

Euryblepharon

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Euryblepharon

MalaCards integrated aliases for Euryblepharon:

Name: Euryblepharon 60

Characteristics:

Orphanet epidemiological data:

60
euryblepharon
Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q10.1
Orphanet 60 ORPHA99172

Summaries for Euryblepharon

MalaCards based summary : Euryblepharon is related to blepharocheilodontic syndrome 1 and ectropion. An important gene associated with Euryblepharon is CTNND1 (Catenin Delta 1), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Ras signaling pathway. Affiliated tissues include eye.

Related Diseases for Euryblepharon

Diseases related to Euryblepharon via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blepharocheilodontic syndrome 1 32.2 CDH1 CTNND1
2 ectropion 29.6 CDH1 CTNND1
3 blepharocheilodontic syndrome 2 11.1
4 down syndrome 10.1
5 blepharitis 10.1
6 distichiasis 9.7 CDH1 CTNND1
7 tooth agenesis 9.6 CDH1 CTNND1
8 colon adenocarcinoma 9.5 CDH1 CTNND1

Graphical network of the top 20 diseases related to Euryblepharon:



Diseases related to Euryblepharon

Symptoms & Phenotypes for Euryblepharon

Drugs & Therapeutics for Euryblepharon

Search Clinical Trials , NIH Clinical Center for Euryblepharon

Genetic Tests for Euryblepharon

Anatomical Context for Euryblepharon

MalaCards organs/tissues related to Euryblepharon:

42
Eye

Publications for Euryblepharon

Articles related to Euryblepharon:

(show all 12)
# Title Authors Year
1
MEN 2B masquerading as chronic blepharitis and euryblepharon. ( 30688132 )
2019
2
The role of midface lift and lateral canthal repositioning in the management of euryblepharon. ( 15249382 )
2004
3
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. ( 15220581 )
2004
4
A case of bilateral cryptophthalmia and euryblepharon with two-stage reconstruction. ( 11206746 )
2001
5
Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome. ( 7837024 )
1994
6
Euryblepharon. ( 6500664 )
1984
7
Euryblepharon: a case report with photographs documenting the condition from infancy to adulthood. ( 7441440 )
1980
8
Genetic study and surgical correction of euryblepharon. ( 530555 )
1979
9
Congenital euryblepharon. ( 556149 )
1979
10
Euryblepharon with associated ocular anomalies. ( 828201 )
1976
11
Euryblepharon. ( 1125160 )
1975
12
Euryblepharon with ectropion. ( 5676371 )
1968

Variations for Euryblepharon

Expression for Euryblepharon

Search GEO for disease gene expression data for Euryblepharon.

Pathways for Euryblepharon

Pathways related to Euryblepharon according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 CDH1 CTNND1
2
Show member pathways
12.18 CDH1 CTNND1
3
Show member pathways
12.14 CDH1 CTNND1
4 12 CDH1 CTNND1
5 11.57 CDH1 CTNND1
6 11.55 CDH1 CTNND1
7
Show member pathways
11.4 CDH1 CTNND1
8 11.26 CDH1 CTNND1
9 11.04 CDH1 CTNND1
10 10.97 CDH1 CTNND1
11 10.87 CDH1 CTNND1
12 10.86 CDH1 CTNND1
13 10.76 CDH1 CTNND1
14 10.47 CDH1 CTNND1
15 9.9 CDH1 CTNND1

GO Terms for Euryblepharon

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

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.26 CDH1 CTNND1
2 lamellipodium GO:0030027 9.16 CDH1 CTNND1
3 cell-cell adherens junction GO:0005913 8.96 CDH1 CTNND1
4 catenin complex GO:0016342 8.62 CDH1 CTNND1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.32 CDH1 CTNND1
2 cell-cell adhesion GO:0098609 9.26 CDH1 CTNND1
3 cell-cell junction assembly GO:0007043 9.16 CDH1 CTNND1
4 adherens junction organization GO:0034332 8.96 CDH1 CTNND1
5 entry of bacterium into host cell GO:0035635 8.62 CDH1 CTNND1

Molecular functions related to Euryblepharon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.96 CDH1 CTNND1
2 cell adhesion molecule binding GO:0050839 8.62 CDH1 CTNND1

Sources for Euryblepharon

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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