MCID: ERY043
MIFTS: 22

Euryblepharon

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Euryblepharon

MalaCards integrated aliases for Euryblepharon:

Name: Euryblepharon 59

Characteristics:

Orphanet epidemiological data:

59
euryblepharon
Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA99172
ICD10 via Orphanet 34 Q10.1

Summaries for Euryblepharon

MalaCards based summary : Euryblepharon is related to blepharocheilodontic syndrome 1 and ectropion. An important gene associated with Euryblepharon is CDH1 (Cadherin 1), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Ras signaling pathway. Affiliated tissues include eye and colon.

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 32.3 CDH1 CTNND1
2 ectropion 29.8 CDH1 CTNND1
3 blepharocheilodontic syndrome 2 11.1
4 down syndrome 10.1
5 distichiasis 9.8 CDH1 CTNND1
6 tooth agenesis 9.8 CDH1 CTNND1
7 colon adenocarcinoma 9.7 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:

41
Eye, Colon

Publications for Euryblepharon

Articles related to Euryblepharon:

(show all 11)
# Title Authors Year
1
The role of midface lift and lateral canthal repositioning in the management of euryblepharon. ( 15249382 )
2004
2
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. ( 15220581 )
2004
3
A case of bilateral cryptophthalmia and euryblepharon with two-stage reconstruction. ( 11206746 )
2001
4
Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome. ( 7837024 )
1994
5
Euryblepharon. ( 6500664 )
1984
6
Euryblepharon: a case report with photographs documenting the condition from infancy to adulthood. ( 7441440 )
1980
7
Genetic study and surgical correction of euryblepharon. ( 530555 )
1979
8
Congenital euryblepharon. ( 556149 )
1979
9
Euryblepharon with associated ocular anomalies. ( 828201 )
1976
10
Euryblepharon. ( 1125160 )
1975
11
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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