MCID: ERY043
MIFTS: 22

Euryblepharon

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Euryblepharon

MalaCards integrated aliases for Euryblepharon:

Name: Euryblepharon 58

Characteristics:

Orphanet epidemiological data:

58
euryblepharon
Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q10.1
Orphanet 58 ORPHA99172

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, thyroid and colon.

Related Diseases for Euryblepharon

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:

40
Eye, Thyroid, Colon, Adrenal Gland

Publications for Euryblepharon

Articles related to Euryblepharon:

(show all 34)
# Title Authors PMID Year
1
Corneoconjunctival transposition for the treatment of deep stromal to full-thickness corneal defects in dogs: A multicentric retrospective study of 100 cases (2012-2018). 61
31950569 2020
2
MEN 2B masquerading as chronic blepharitis and euryblepharon. 61
30688132 2019
3
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
4
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. 61
29348693 2018
5
Corneal grafting for the treatment of full-thickness corneal defects in dogs: a review of 50 cases. 61
27241238 2017
6
Surgical correction of congenital entropion in related Boer goat kids using a combination Hotz-Celsus and lateral eyelid wedge resection procedure. 61
25338664 2014
7
Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. 61
24719364 2014
8
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. 61
24722273 2014
9
Ophthalmic considerations in cleft lip and palate patients. 61
22379315 2011
10
Ectropion. 61
20590414 2010
11
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. 61
20101698 2010
12
Nonsurgical management of congenital eyelid malpositions using hyaluronic Acid gel. 61
19617780 2009
13
Blepharo-cheilo-dontic (BCD) syndrome: case report. 61
16526930 2006
14
Dysmorphology and the orbital region: a practical clinical approach. 61
15530943 2004
15
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. 61
15220581 2004
16
The role of midface lift and lateral canthal repositioning in the management of euryblepharon. 61
15249382 2004
17
[Surgical treatment of congenital eyelid malpositions in children]. 61
15039636 2004
18
Management of eyelid anomalies associated with Blepharo-cheilo-dontic syndrome. 61
11476703 2001
19
A case of bilateral cryptophthalmia and euryblepharon with two-stage reconstruction. 61
11206746 2001
20
Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. 61
10406669 1999
21
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. 61
9511975 1998
22
Blepharo-cheilo-dontic (BCD) syndrome. 61
8911600 1996
23
Severe congenital lagophthalmos with tarsal aplasia. 61
8646182 1996
24
[Primary congenital ectropion. Apropos of 2 cases]. 61
8881403 1996
25
Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome. 61
7837024 1994
26
[Eye symptoms in connatal lymphedema]. 61
4080312 1985
27
Euryblepharon. 61
6500664 1984
28
Euryblepharon: a case report with photographs documenting the condition from infancy to adulthood. 61
7441440 1980
29
Congenital euryblepharon. 61
556149 1979
30
Genetic study and surgical correction of euryblepharon. 61
530555 1979
31
[Case report on a retinal complication in long-term-therapy with oral hormonal contraceptives (author's transl)]. 61
414003 1977
32
Euryblepharon with associated ocular anomalies. 61
828201 1976
33
Euryblepharon. 61
1125160 1975
34
Euryblepharon with ectropion. 61
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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 CTNND1 CDH1
2
Show member pathways
12.17 CTNND1 CDH1
3
Show member pathways
12.13 CTNND1 CDH1
4 11.98 CTNND1 CDH1
5 11.58 CTNND1 CDH1
6 11.55 CTNND1 CDH1
7
Show member pathways
11.4 CTNND1 CDH1
8 11.26 CTNND1 CDH1
9 11.04 CTNND1 CDH1
10 10.97 CTNND1 CDH1
11 10.86 CTNND1 CDH1
12 10.76 CTNND1 CDH1
13 10.47 CTNND1 CDH1
14 9.9 CTNND1 CDH1

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 CTNND1 CDH1
2 lamellipodium GO:0030027 9.16 CTNND1 CDH1
3 adherens junction GO:0005912 8.96 CTNND1 CDH1
4 catenin complex GO:0016342 8.62 CTNND1 CDH1

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

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

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 CTNND1 CDH1
2 cell adhesion molecule binding GO:0050839 8.62 CTNND1 CDH1

Sources for Euryblepharon

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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