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MCID: ECT005
MIFTS: 41

Ectropion

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Ectropion

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MalaCards integrated aliases for Ectropion:

Name: Ectropion 12 54 44 15
Ectropion of Eyelid 12 32
Everted Margin 12

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1570
ICD9CM 34 374.1
MeSH 44 D004483
SNOMED-CT 67 155178000
ICD10 32 H02.1
UMLS 70 C0013592
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Summaries for Ectropion

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MalaCards based summary : Ectropion, also known as ectropion of eyelid, is related to ichthyosis, congenital, autosomal recessive 4a and neu-laxova syndrome 1. An important gene associated with Ectropion is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are Adhesion and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Fluorouracil and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and cervix, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 73 Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable... more...

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Related Diseases for Ectropion

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Diseases in the Ectropion family:

Rare Disorder with Ectropion Congenital Ectropion
Secondary Ectropion

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

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 31.9 TGM1 ABCA12
2 neu-laxova syndrome 1 31.5 PSAT1 PHGDH
3 ichthyosis, congenital, autosomal recessive 2 31.3 ALOXE3 ALOX12B
4 euryblepharon 30.8 CTNND1 CDH1
5 distichiasis 30.4 CTNND1 CDH1
6 ichthyosis, congenital, autosomal recessive 4b 30.1 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
7 keratosis 30.1 TGM1 MBTPS2 ABCA12
8 ichthyosis, congenital, autosomal recessive 1 29.9 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
9 autosomal recessive congenital ichthyosis 29.8 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
10 ichthyosis, congenital, autosomal recessive 7 29.6 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
11 glaucoma, primary open angle 29.3 PAX6 EFEMP1 CRYAA
12 optic nerve disease 29.1 PAX6 NF1 CRYAA
13 ichthyosis 28.6 TGM1 PSAT1 PNPLA1 PHGDH NIPAL4 MBTPS2
14 ichthyosis vulgaris 27.9 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
15 eyelid disease 26.7 TGM1 PNPLA1 PAX6 NIPAL4 FERMT1 CYP4F22
16 blepharocheilodontic syndrome 1 11.6
17 barber-say syndrome 11.5
18 cicatricial ectropion 11.3
19 senile ectropion 11.3
20 ichthyosis alopecia eclabion ectropion intellectual disability 11.3
21 congenital ectropion 11.2
22 mechanical ectropion 11.2
23 mandibulofacial dysostosis with macroblepharon and macrostomia 11.1
24 spastic ectropion 11.1
25 ichthyosis with alopecia, eclabium, ectropion, and mental retardation 11.1
26 congenital ectropion uveae 11.0
27 sezary's disease 11.0
28 secondary ectropion 11.0
29 isolated congenital ectropion 10.9
30 jones hersh yusk syndrome 10.9
31 rare disorder with ectropion 10.9
32 corneal dystrophy, posterior polymorphous, 1 10.8
33 postaxial acrofacial dysostosis 10.8
34 restrictive dermopathy, lethal 10.8
35 keratosis follicularis spinulosa decalvans, x-linked 10.8
36 ichthyosis, congenital, autosomal recessive 11 10.8
37 ichthyosis, congenital, autosomal recessive 5 10.8
38 ichthyosis, congenital, autosomal recessive 3 10.8
39 ichthyosis, congenital, autosomal recessive 6 10.8
40 fontaine progeroid syndrome 10.8
41 ichthyosis, congenital, autosomal recessive 8 10.8
42 ichthyosis, congenital, autosomal recessive 9 10.8
43 ichthyosis, congenital, autosomal recessive 10 10.8
44 neu-laxova syndrome 2 10.8
45 ichthyosis, congenital, autosomal recessive 14 10.8
46 ichthyosis, congenital, autosomal recessive 13 10.8
47 blepharocheilodontic syndrome 2 10.8
48 oculomaxillofacial dysostosis 10.8
49 entropion 10.6
50 lagophthalmos 10.5

Graphical network of the top 20 diseases related to Ectropion:



Diseases related to Ectropion
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Symptoms & Phenotypes for Ectropion

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MGI Mouse Phenotypes related to Ectropion:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 ABCA12 ALOXE3 CDH1 CYP4F22 EFEMP1 FERMT1
2 homeostasis/metabolism MP:0005376 10.13 ABCA12 ALOX12B ALOXE3 CDH1 CYP4F22 EFEMP1
3 craniofacial MP:0005382 10.03 ABCA12 ALOXE3 NF1 PAX6 PHGDH PNPLA1
4 integument MP:0010771 10 ABCA12 ALOX12B ALOXE3 CDH1 CTNND1 CYP4F22
5 embryo MP:0005380 9.97 ABCA12 ALOXE3 CDH1 CYP4F22 NF1 PAX6
6 digestive/alimentary MP:0005381 9.95 CDH1 CTNND1 EFEMP1 FERMT1 NF1 PAX6
7 mortality/aging MP:0010768 9.86 ABCA12 ALOX12B ALOXE3 CDH1 CTNND1 CYP4F22
8 neoplasm MP:0002006 9.1 CDH1 CTNND1 NF1 PAX6 PHGDH TWIST2
Sources

Drugs & Therapeutics for Ectropion

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Drugs for Ectropion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 2 51-21-8 3385
2 Immunosuppressive Agents Phase 2
3 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyaluronic Acid Gels for Lower Lid Retraction Withdrawn NCT01838252 Phase 4
2 Post-Marketing Clinical Follow-up (PMCF) Study in Ophthalmic Surgery to Evaluate the Safety and Efficacy of Novosyn® Quick Suture Material. A Multicenter Randomized, Active-controlled, Double-blinded, Prospective, Observational Study. Withdrawn NCT02761083 Phase 4
3 A Prospective, Randomized, Double-blinded Comparison of the Use of 5-fluorouracil Versus Placebo in Periocular Full Thickness Skin Grafts. Completed NCT02705352 Phase 2 5-Fluorouracil
4 Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries Unknown status NCT02638610
5 Comparison Between Two Surgical Methods for Eyelid Ectropion: Tarsal Strip Alone Versus Tarsal Strip With Punctoplasty (Three Snips With or Without Diamond-shaped Resection) Completed NCT02893813
6 Lacrimal Drainage Resistance Study Completed NCT01766232
7 Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery Not yet recruiting NCT04235803

Search NIH Clinical Center for Ectropion

Cochrane evidence based reviews: ectropion

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Genetic Tests for Ectropion

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Anatomical Context for Ectropion

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MalaCards organs/tissues related to Ectropion:

40
Eye, Skin, Cervix, Endothelial, Bone, Retina, Lung
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Publications for Ectropion

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Articles related to Ectropion:

(show top 50) (show all 1873)
# Title Authors PMID Year
1
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 54 61
18948357 2009
2
Calcium-sensing receptor promotes calcium oxalate crystal adhesion and renal injury in Wistar rats by promoting ROS production and subsequent regulation of PS ectropion, OPN, KIM-1, and ERK expression. 61
33678127 2021
3
Scalp roof tiles.: A new diagnostic sign in neonates with Netherton Syndrome. 61
33795504 2021
4
An outcome comparison of superficial versus deep plane dissection of cervicofacial flaps: A systematic review and meta-analysis. 61
33386263 2021
5
Complex Fistula Formations After Orbital Fracture Repair With Teflon: A Review of 3 Case Reports. 61
32881751 2021
6
Neonatal-Onset Congenital Ectropion Uveae: A Distinct Phenotype of Newborn Glaucoma. 61
33045217 2021
7
Anterior lamellar deficit ectropion management. 61
32494043 2021
8
Tarsal Strip for Postsurgical Cicatricial Ectropion Repair. 61
32991849 2021
9
Surgical and Ophthalmologic Outcomes of Reconstruction in Patients Treated With Eye-Sparing Surgery and Radiation Therapy for Tumors of the Lacrimal Drainage Apparatus. 61
33555683 2021
10
Successful Free Bilamellar Eyelid Grafts for the Repair of Upper and Lower Eyelid Defects in Patients and Laser Speckle Contrast Imaging of Revascularization. 61
32467523 2021
11
Ocular Complications After Laser or Light-Based Therapy-Dangers Dermatologists Should Know. 61
33731574 2021
12
Persistent Basal Cell Carcinoma Following Self-Treatment With a "Natural Cure," Sanguinaria canadensis. 61
32732547 2021
13
Augmented fascia temporalis sling for paralytic ectropion of the lower lid. 61
33607927 2021
14
Lateral transorbital canthopexy using a silicone tube in patients with paralytic ectropion. 61
33567886 2021
15
Complete Tarsal Ectropion in a Young Patient with Junctional Epidermolysis Bullosa. 61
33485475 2021
16
Vision and Ocular Surface Salvage in Extreme Post-Burn Cicatricial Ectropion with Infectious Exposure Keratitis. 61
33528555 2021
17
The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies. 61
33459250 2021
18
Comparative evaluation of conventional and modified frontalis muscle flap advancement techniques in the treatment of severe congenital ptosis: A retrospective cohort study. 61
33529243 2021
19
To implant or not to implant: emergency orbital eviscerations with primary orbital implants. 61
33432166 2021
20
Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report. 61
33569485 2021
21
Postoperative Quality of Life in Oculoplastic Patients. 61
32358236 2021
22
Patient Satisfaction and Management of Postoperative Complications Following Ablative Carbon Dioxide Laser Resurfacing of the Lower Eyelids. 61
33481534 2021
23
Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients. 61
33493472 2021
24
Ectropion surgery might not be a long-term solution for harlequin ichthyosis. 61
33296556 2021
25
A New Surgical Method for Medial Ectropion Repair: Fixing the Lower Eyelid Retractor to the Back of the Tarsal Plate. 61
32858610 2021
26
Surgical Correction of Upper Eyelid Ectropion Presenting Dry Eye Symptoms. 61
32478840 2021
27
Commentary on: Surgical Correction of Upper Eyelid Ectropion Presenting Dry Eye Symptoms. 61
32761114 2021
28
Laser therapy in the treatment of cicatricial ectropion. 61
33124092 2021
29
Relationship Between Eyelid Pressure and Lacrimal Status in Mild Facial Nerve Palsy. 61
33633874 2021
30
Efficacy of pre-expanded forehead flap based on the superficial temporal artery in correction of cicatricial ectropion of the lower eyelid. 61
32811728 2021
31
Lower eyelid malposition following repair of complex orbitofacial trauma. 61
33353453 2020
32
Drug-induced ectropion following the chronic use of topical Natamycin. 61
33345294 2020
33
Floppy eyelid syndrome and ectropion improvement after 1 month of 0.03% Bimatoprost topical therapy. 61
33117912 2020
34
Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion. 61
32984649 2020
35
Cause analysis and reoperation effect of failure and recurrence after epiblepharon correction in children. 61
33392308 2020
36
Long-term treatment outcomes for congenital ectropion uveae with ptosis and glaucoma. 61
33573764 2020
37
Clinical profile and outcome of early surgery in neonatal-onset glaucoma presenting over a 5-year period. 61
33268344 2020
38
Kindler Syndrome: A Multidisciplinary Management Approach. 61
32861675 2020
39
Osteoradionecrosis of the Midface and Mandible: Pathogenesis and Management. 61
33380908 2020
40
Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases. 61
33120713 2020
41
Comment on «Ectropion in Dermatologic Surgery: Exploration and Reconstruction Techniques». 61
33220315 2020
42
Change in Lower Eyelid Contour Following Ectropion Repair With Lateral Tarsal Strip. 61
32205778 2020
43
Successful correction of ichthyosis-related ectropion by autografts. 61
32543709 2020
44
Reconstruction of Lagophthalmos of Upper Eyelid With a Subcutaneous Pedicled Propeller Flap. 61
33252526 2020
45
Telemedicine in Oculoplastics: The Real-Life Application of Video Consultation Clinics. 61
33237666 2020
46
Comment on Simultaneous Lateral Tarsal Strip and Medial Spindle Procedures for Cicatricial Ectropion. 61
31397776 2020
47
Antegrade Foreheadplasty: A Novel Surgical Approach for Upper Eyelid Contracture Deformities in Pediatric Patients. 61
33136854 2020
48
Free Tarsal Graft and Free Skin Graft for Lower Eyelid Reconstruction. 61
32732536 2020
49
Synergetic suppression effects upon the combination of UV-C irradiation and berberine on Microcystis aeruginosa and Scenedesmus obliquus in reclaimed water: Effectiveness and mechanisms. 61
32711324 2020
50
Entropion and ectropion. 61
32616300 2020
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Variations for Ectropion

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Expression for Ectropion

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Search GEO for disease gene expression data for Ectropion.
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Pathways for Ectropion

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Pathways related to Ectropion according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Adhesion 4
10.89 FERMT1 CTNND1 CDH1
2
Prostaglandin 2 biosynthesis and metabolism FM 23
10.52 ALOXE3 ALOX12B
3
E-cadherin signaling in keratinocytes 1
10.23 CTNND1 CDH1
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GO Terms for Ectropion

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 TGM1 PSAT1 PHGDH PAX6 NF1 FERMT1
2 cytoplasm GO:0005737 9.44 TWIST2 PSAT1 PNPLA1 PAX6 NF1 MBTPS2

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.71 PHGDH PAX6 NF1 CTNND1
2 linoleic acid metabolic process GO:0043651 9.46 ALOXE3 ALOX12B
3 keratinocyte differentiation GO:0030216 9.46 TGM1 PNPLA1 PAX6 ABCA12
4 lipoxygenase pathway GO:0019372 9.43 ALOXE3 ALOX12B
5 hepoxilin biosynthetic process GO:0051122 9.37 ALOXE3 ALOX12B
6 entry of bacterium into host cell GO:0035635 9.32 CTNND1 CDH1
7 L-serine biosynthetic process GO:0006564 9.26 PSAT1 PHGDH
8 ceramide biosynthetic process GO:0046513 9.26 PNPLA1 CYP4F22 ALOXE3 ALOX12B
9 establishment of skin barrier GO:0061436 8.92 PNPLA1 ALOXE3 ALOX12B ABCA12

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.13 CYP4F22 ALOXE3 ALOX12B
2 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOXE3 ALOX12B
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Sources for Ectropion

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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