MCID: ENP001
MIFTS: 35

Enophthalmos

Categories: Bone diseases, Eye diseases

Aliases & Classifications for Enophthalmos

MalaCards integrated aliases for Enophthalmos:

Name: Enophthalmos 12 43 15 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:11175
ICD9CM 34 376.5
MeSH 43 D015841
NCIt 49 C79552
SNOMED-CT 67 80093006
ICD10 32 H05.4
UMLS 71 C0014306

Summaries for Enophthalmos

MalaCards based summary : Enophthalmos is related to yemenite deaf-blind hypopigmentation syndrome and intraocular pressure quantitative trait locus. An important gene associated with Enophthalmos is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). The drugs Ketamine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and breast, and related phenotypes are nervous system and vision/eye

Wikipedia : 74 Enophthalmos is the posterior displacement of the eyeball within the orbit due to changes in the volume... more...

Related Diseases for Enophthalmos

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.2 GUCY2D CEP290
2 intraocular pressure quantitative trait locus 30.0 PTGFR FBN1 CRYAA
3 tukel syndrome 29.7 TNNI3K PHOX2A NT5C3A
4 ptosis 29.7 TNNI3K PHOX2A PES1 NT5C3A ERCC6 CRYAA
5 esotropia 29.6 TFAP2A PHOX2A PES1 NT5C3A CRYAA
6 strabismus 29.6 TNNI3K PHOX2A PES1 NT5C3A CRYAA
7 amblyopia 29.5 TFAP2A PRSS56 PHOX2A CRYAA
8 hypertropia 29.5 TNNI3K PHOX2A NT5C3A
9 eye disease 29.2 GUCY2D FBN1 ERCC6 CRYAA CEP290
10 orbital disease 28.5 TFAP2A SLC39A13 PHOX2A PES1 NT5C3A FBN1
11 horner's syndrome 11.7
12 silent sinus syndrome 11.6
13 fourth cranial nerve palsy, familial congenital 11.2
14 tetrasomy 9p 11.2
15 exophthalmos 10.6
16 breast cancer 10.4
17 neurofibromatosis 10.4
18 maxillary sinusitis 10.4
19 larsen-like syndrome b3gat3 type 10.3 SLC39A13 PES1
20 phimosis 10.3 PES1 CRYAA
21 systemic scleroderma 10.3
22 hypermobility syndrome 10.3 PES1 FBN1
23 chronic maxillary sinusitis 10.3
24 mechanical strabismus 10.3
25 orbital varix 10.3
26 bone structure disease 10.2 PES1 FBN1 ERCC6
27 multiple pterygium syndrome, escobar variant 10.2 PES1 ERCC6 CRYAA
28 entropion 10.2
29 keratopathy 10.2
30 brittle cornea syndrome 2 10.2 SLC39A13 ERCC6 CRYAA
31 lens disease 10.2 FBN1 ERCC6 CRYAA
32 lens subluxation 10.2 TFAP2A FBN1 CRYAA
33 cone-rod dystrophy 3 10.2 GUCY2D ERCC6 CRYAA
34 patent ductus arteriosus 1 10.2 TFAP2A PES1 FBN1
35 paralytic squint 10.2 PHOX2A NT5C3A
36 midface dysplasia 10.2 EPB41L1 C20orf203
37 phacogenic glaucoma 10.2 FBN1 CRYAA
38 varicose veins 10.2
39 kearns-sayre syndrome 10.2
40 hydrocephalus 10.2
41 ectropion 10.2
42 optic nerve disease 10.2 PES1 ERCC6 CRYAA
43 deafness and myopia 10.1 SLC39A13 PRSS56
44 neurofibromatosis, type i 10.1
45 lagophthalmos 10.1
46 localized scleroderma 10.1
47 lupus erythematosus 10.1
48 linear scleroderma 10.1
49 glaucoma, primary open angle 10.1 PTGFR FBN1 CRYAA
50 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1 FBN1 ERCC6 CRYAA

Graphical network of the top 20 diseases related to Enophthalmos:



Diseases related to Enophthalmos

Symptoms & Phenotypes for Enophthalmos

MGI Mouse Phenotypes related to Enophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 CEP290 EPB41L1 ERCC6 ERCC8 FBN1 GUCY2D
2 vision/eye MP:0005391 9.17 CEP290 ERCC6 ERCC8 GUCY2D PRSS56 SLC39A13

Drugs & Therapeutics for Enophthalmos

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Anesthetics Phase 4
4 Excitatory Amino Acid Antagonists Phase 4
5 Anesthetics, Dissociative Phase 4
6 Anesthetics, General Phase 4
7 Anesthetics, Local Phase 4
8 Analgesics Phase 4
9 Neurotransmitter Agents Phase 4
10 Anesthetics, Intravenous Phase 4
11 Hormones Phase 2
12 Calcium, Dietary Phase 2
13
Calcium Nutraceutical Phase 2 7440-70-2 271
14
Cocaine Approved, Illicit 50-36-2 446220 5760

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined Platelet Rich Plasma Intra-articular Shoulder Injection and Stellate Ganglion Block. A New Technique for Management of Chronic Post-mastectomy Shoulder Pain Syndrome Completed NCT03586154 Phase 4 ketamine and bupivacaine injection
2 Comparing the Reconstruction of the Orbit Fracture With a Poly Caprolactone / Tri-Calcium Phosphate ( PCL/TCP ) Implant vs. a Titanium Mesh Implant. Unknown status NCT01119144 Phase 2
3 Reconstruction of the Orbit With a Bioresorbable Polycaprolactone Implant Completed NCT00233922 Phase 2
4 SILENT SINUS SYNDROME (First Case Report, Saudi Arabia With Recommendation) Completed NCT04388345
5 Low Profile Titanium Mesh in the Use of Orbital Reconstruction Completed NCT01432964
6 Post-enucleation Socket Syndrome Study (PESSS): Part 1 - Three Dimensional Volumetric Assessment of Anophthalmic Sockets With the New Multi-detector Computed Tomographic Technology Completed NCT00347282
7 Evaluation of Orbital Reconstruction Using Patient Specific 3-D Printed Onlay Versus Pre-Bent Titanium Mesh Not yet recruiting NCT04271137
8 Evaluation of the Efficiency for Orbital Reconstruction After Defect of Bone Substance by Three-dimensional Printed Patient Specific Porous Titanium Implant in Comparison With Autologous Bone Graft Not yet recruiting NCT03608280
9 One Point Versus Two Point Fixation of Tripodal Zygomatic Fractures Not yet recruiting NCT04214405
10 Does the Use of a Customized Titanium Reconstruction Plate for Orbital Fractures Result in Better Orbital Volume and Outcome Suspended NCT03673865

Search NIH Clinical Center for Enophthalmos

Cochrane evidence based reviews: enophthalmos

Genetic Tests for Enophthalmos

Anatomical Context for Enophthalmos

MalaCards organs/tissues related to Enophthalmos:

40
Bone, Eye, Breast, Brain, Thyroid, Cortex, Heart

Publications for Enophthalmos

Articles related to Enophthalmos:

(show top 50) (show all 1407)
# Title Authors PMID Year
1
Three-dimensional characterisation of the globe position in the orbit. 61
32140924 2020
2
Silent sinus syndrome in children. 61
32272375 2020
3
Virtual Surgery Planning and Three-Dimensional Printing Template for Osteotomy of the Zygoma to Correct Untreated Zygomaticomaxillary Complex Fracture. 61
32371718 2020
4
A nonsurgical approach with repeated orthoptic evaluation is justified for most blow-out fractures. 61
32295722 2020
5
An Assessment of Globe Position Dynamics following Transcranial Lateral and Superior Orbital Wall Resections without Rigid Reconstruction: A Case Series of 55 Patients. 61
32499998 2020
6
Anomalous orbital structure mimicking fracture of orbital floor. 61
32512212 2020
7
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. 61
32534992 2020
8
Short communication: Hypernatremia in diarrheic calves associated with oral electrolyte administration in water and milk replacer in absence of access to water. 61
32307155 2020
9
Horner Syndrome Caused by Internal Jugular Vein Catheterization. 61
31350153 2020
10
Horner Syndrome induced by toxoplasmosis infection in a patient with AIDS and disseminated herpes simplex virus. 61
32346650 2020
11
Restoration of the inferomedial orbital strut using a standardized three-dimensional printing implant. 61
31852015 2020
12
Anatomic Variability of the Human Orbit. 61
31887292 2020
13
Complications Following Orbital Floor Repair: Impact of Intraoperative Computed Tomography Scan and Implant Material. 61
32407138 2020
14
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
15
Malar rash in a young child with neurodevelopmental delay: a quiz. 61
32447277 2020
16
Orbital malformation with dysplastic infraorbital artery in neurofibromatosis type 1. 61
32370622 2020
17
A Novel Method for Complex Diagnostics of Globes' Position. 61
32487836 2020
18
Single-Point Fixation for Noncomminuted Zygomaticomaxillary Complex Fractures-A 20-Year Experience. 61
32006491 2020
19
Resorbable polylactic acid polymer plates in repair of blow-out orbital floor fractures. 61
32476460 2020
20
Utilizing 3D-Printed Orbital Floor Stamps to Create Patient-Specific Implants for Orbital Floor Reconstruction. 61
32433352 2020
21
Intraorbital volume augmentation with patient-specific titanium spacers. 61
31536820 2020
22
Early-diagnosed silent sinus syndrome and cone-beam computed tomography in a pediatric patient: a case report. 61
32364356 2020
23
Does Early Repair of Orbital Fractures Result in Superior Patient Outcomes? A Systematic Review and Meta-Analysis. 61
31682791 2020
24
Biodegradable implants for orbital wall fracture reconstruction. 61
32380809 2020
25
Hyperostosing sphenoid wing meningiomas: surgical outcomes and strategy for bone resection and multidisciplinary orbital reconstruction. 61
32114535 2020
26
Retraction of Orbital Soft Tissue During Orbital Surgery: A Technical Note. 61
31988579 2020
27
Facial fractures: classification and highlights for a useful report. 61
32193796 2020
28
A Rare Catheter Complication in a Patient With Neuroblastoma: Horner's Syndrome. 61
31876676 2020
29
Surgical management of bilateral, upper and lower eyelid entropion in 27 Shar Pei dogs, using the Stades forced granulation procedure of the upper eyelid only. 61
31738860 2020
30
Prediction of late enophthalmos using quantitative measures in isolated medial orbital wall fracture: Multiple regression analysis. 61
31761734 2020
31
[IgG4-Related Orbitopathy as an Important Differential Diagnosis of Advanced Silent Sinus Syndrome. German version]. 61
32060570 2020
32
Determining the predictive capability of a Clinical Assessment Scoring Chart to differentiate severity of the clinical consequences of neonatal calf diarrhea relative to gold-standard blood gas analysis. 61
32271786 2020
33
Atypical Presentation of Silent Sinus Syndrome: A Case Report and Literature Review. 61
31984166 2020
34
IgG4-related orbitopathy as an important differential diagnosis of advanced silent sinus syndrome. 61
31915884 2020
35
Recurrent Horner's syndrome following epidural analgesia for labor: A case report. 61
32000389 2020
36
Silent Sinus Syndrome and Williams Syndrome: Two Rare Diseases Found in a Pediatric Patient. 61
32411639 2020
37
Enophthalmos: Exploration of Quantitative Treatment With Retro-Orbital Fat Globules Injection. 61
31425407 2020
38
Pembrolizumab-Related Enophthalmos. 61
31864472 2020
39
[Computer technologies in diagnostics and treatment of worsening post-enucleation socket syndrome]. 61
32241969 2020
40
Periorbital Injection of Hyaluronic Acid Gel in Patients With Deep Superior Sulcus. 61
31794448 2020
41
Natural progression of bilateral maxillary silent sinus syndrome: A metachronous case report. 61
32047632 2020
42
A Comparative Study of Orbital Blow Out Fracture Repair, Using Autogenous Bone Graft and Alloplastic Materials. 61
31750117 2019
43
Correction of post-traumatic enophthalmos with anatomical absorbable implant and iliac bone graft. 61
31914490 2019
44
A case of linear scleroderma "en coup de sabre" with strabismus fixus in a child. 61
31544571 2019
45
Analysis of contemporary tools for the measurement of enophthalmos: a PRISMA-driven systematic review. 61
31431316 2019
46
Post-traumatic enophthalmos secondary to orbital fat atrophy: a volumetric analysis. 61
31726012 2019
47
Long-term ophthalmic anatomical and functional outcomes after surgical removal of intraorbital foreign bodies. 61
31690103 2019
48
Silent Sinus Syndrome: Interesting Clinical and Radiologic Findings. 61
31071279 2019
49
Use of Unsintered Hydroxyapatite and Poly-L-lactic Acid Composite Sheets for Management of Orbital Wall Fracture. 61
31283640 2019
50
[Application of three-dimensional printing combined with surgical navigation and endoscopy in orbital fracture reconstruction]. 61
31495150 2019

Variations for Enophthalmos

Expression for Enophthalmos

Search GEO for disease gene expression data for Enophthalmos.

Pathways for Enophthalmos

GO Terms for Enophthalmos

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA repair GO:0045739 9.32 ERCC8 ERCC6
2 response to X-ray GO:0010165 9.26 ERCC8 ERCC6
3 single strand break repair GO:0000012 9.16 ERCC8 ERCC6
4 double-strand break repair via classical nonhomologous end joining GO:0097680 8.96 ERCC8 ERCC6
5 oculomotor nerve formation GO:0021623 8.62 TFAP2A PHOX2A

Sources for Enophthalmos

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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