MCID: CNG357
MIFTS: 22

Congenital Symblepharon

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Symblepharon

MalaCards integrated aliases for Congenital Symblepharon:

Name: Congenital Symblepharon 12 58 15 37

Characteristics:

Orphanet epidemiological data:

58
congenital symblepharon
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111720
ICD10 via Orphanet 33 Q11.2
UMLS via Orphanet 71 C0152454
Orphanet 58 ORPHA98948

Summaries for Congenital Symblepharon

Disease Ontology : 12 An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.

MalaCards based summary : Congenital Symblepharon is related to cryptophthalmos, unilateral or bilateral, isolated and cryptophthalmos. An important gene associated with Congenital Symblepharon is FREM2 (FRAS1 Related Extracellular Matrix 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include eye, and related phenotypes are integument and limbs/digits/tail

Related Diseases for Congenital Symblepharon

Graphical network of the top 20 diseases related to Congenital Symblepharon:



Diseases related to Congenital Symblepharon

Symptoms & Phenotypes for Congenital Symblepharon

MGI Mouse Phenotypes related to Congenital Symblepharon:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.33 EGR1 FRAS1 FREM2
2 limbs/digits/tail MP:0005371 9.13 EGR1 FRAS1 FREM2
3 respiratory system MP:0005388 8.8 EGR1 FRAS1 FREM2

Drugs & Therapeutics for Congenital Symblepharon

Search Clinical Trials , NIH Clinical Center for Congenital Symblepharon

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Congenital Symblepharon cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Congenital Symblepharon:
Oral mucosal epithelial cell sheets for treatment of corneal stem cell insufficiency

Genetic Tests for Congenital Symblepharon

Anatomical Context for Congenital Symblepharon

MalaCards organs/tissues related to Congenital Symblepharon:

40
Eye

Publications for Congenital Symblepharon

Articles related to Congenital Symblepharon:

# Title Authors PMID Year
1
Reply re: "Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant". 61
24217490 2013
2
Re: "Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant". 61
24217489 2013
3
Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant. 61
23619465 2013
4
Congenital symblepharon (abortive cryptophthalmos) associated with meningoencephalocele. 61
9185197 1997
5
Orbito-palpebral reconstruction in two cases of incomplete cryptophthalmos. 61
1457072 1992
6
Cryptophthalmos: surgical treatment of the congenital symblepharon variant. 61
3008809 1986
7
Congenital symblepharon. 61
13228540 1955

Variations for Congenital Symblepharon

Expression for Congenital Symblepharon

Search GEO for disease gene expression data for Congenital Symblepharon.

Pathways for Congenital Symblepharon

Pathways related to Congenital Symblepharon according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 FREM2 FRAS1

GO Terms for Congenital Symblepharon

Cellular components related to Congenital Symblepharon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 FREM2 FRAS1

Biological processes related to Congenital Symblepharon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.96 FREM2 FRAS1
2 morphogenesis of an epithelium GO:0002009 8.62 FREM2 FRAS1

Sources for Congenital Symblepharon

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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