MCID: ENP001
MIFTS: 40

Enophthalmos

Categories: Bone diseases, Eye diseases

Aliases & Classifications for Enophthalmos

MalaCards integrated aliases for Enophthalmos:

Name: Enophthalmos 12 6 44 15 70 32

Classifications:



External Ids:

Disease Ontology 12 DOID:11175
ICD9CM 34 376.5
MeSH 44 D015841
NCIt 50 C79552
SNOMED-CT 67 267746003
ICD10 32 H05.4
UMLS 70 C0014306

Summaries for Enophthalmos

MalaCards based summary : Enophthalmos is related to esotropia and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Enophthalmos is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A). The drugs Hormones and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and breast, and related phenotypes are behavior/neurological and cellular

Wikipedia : 73 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 144)
# Related Disease Score Top Affiliating Genes
1 esotropia 30.2 SLC9A6 PHOX2A CRYAA
2 yemenite deaf-blind hypopigmentation syndrome 30.0 GUCY2D CEP290
3 amblyopia 29.9 SLC9A6 PRSS56 CRYAA
4 intraocular pressure quantitative trait locus 29.8 PTGFR FBN1 CRYAA
5 strabismus 29.4 SLC9A6 PHOX2A NF1 FBN2 CRYAA
6 eye disease 29.3 GUCY2D ERCC6 CRYAA CEP290 CABP4
7 orbital disease 29.2 SLC39A13 PHOX2A NF1 FBN1 ERCC6 EPB41L1
8 horner's syndrome 11.1
9 silent sinus syndrome 11.1
10 fourth cranial nerve palsy, familial congenital 10.9
11 tetrasomy 9p 10.9
12 exophthalmos 10.5
13 ptosis 10.4
14 cockayne syndrome type iii 10.3 ERCC8 ERCC6
15 neurofibromatosis 10.3
16 ehlers-danlos syndrome, hypermobility type 10.3 SLC39A13 ERCC6
17 maxillary sinusitis 10.2
18 midface dysplasia 10.2 EPB41L1 C20orf203
19 anisometropia 10.2 PHOX2A CRYAA
20 exotropia 10.2 PHOX2A FBN1 CRYAA
21 lens disease 10.2 FBN1 ERCC6 CRYAA
22 systemic scleroderma 10.2
23 subclavian artery aneurysm 10.2 NF1 FBN1
24 cone-rod dystrophy, x-linked, 3 10.2 CRYAA CABP4
25 congenital nervous system abnormality 10.2 SLC9A6 ERCC6 DYRK1A CRYAA
26 xfe progeroid syndrome 10.2 ERCC8 ERCC6
27 chronic maxillary sinusitis 10.2
28 orbital varix 10.2
29 cone-rod dystrophy 5 10.1 GUCY2D CABP4
30 leber congenital amaurosis 3 10.1 GUCY2D CRYAA CEP290
31 leber congenital amaurosis / early-onset severe retinal dystrophy 10.1 CEP290 CABP4
32 leber congenital amaurosis 2 10.1 GUCY2D CRYAA CEP290
33 paralytic squint 10.1 PHOX2A NT5C3A
34 glaucoma, primary open angle 10.1 PTGFR FBN1 CRYAA
35 entropion 10.1
36 keratopathy 10.1
37 mechanical strabismus 10.1
38 physical disorder 10.1 ERCC6 CRYAA CEP290
39 leber congenital amaurosis 6 10.1 GUCY2D CEP290
40 pseudopapilledema 10.1 PRSS56 GUCY2D CEP290
41 partial third-nerve palsy 10.1 PHOX2A NT5C3A
42 varicose veins 10.1
43 kearns-sayre syndrome 10.1
44 hydrocephalus 10.1
45 ectropion 10.1
46 leber congenital amaurosis 9 10.0 GUCY2D CEP290
47 eye degenerative disease 10.0 GUCY2D ERCC6 CRYAA CEP290
48 neurofibromatosis, type i 10.0
49 lagophthalmos 10.0
50 localized scleroderma 10.0

Graphical network of the top 20 diseases related to Enophthalmos:



Diseases related to Enophthalmos

Symptoms & Phenotypes for Enophthalmos

MGI Mouse Phenotypes related to Enophthalmos:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 CEP290 DYRK1A EPB41L1 ERCC6 ERCC8 FBN1
2 cellular MP:0005384 10 CEP290 DYRK1A ERCC6 ERCC8 FBN1 FBN2
3 nervous system MP:0003631 9.97 CABP4 CEP290 DYRK1A EPB41L1 ERCC6 ERCC8
4 pigmentation MP:0001186 9.35 CEP290 EPB41L1 FBN1 NF1 PRSS56
5 vision/eye MP:0005391 9.32 CABP4 CEP290 EPB41L1 ERCC6 ERCC8 FBN2

Drugs & Therapeutics for Enophthalmos

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2
2 Calcium, Dietary Phase 2
3
Calcium Nutraceutical Phase 2 7440-70-2 271
4
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
5
Ropivacaine Approved 84057-95-4 71273 175805
6
Methylcobalamin Approved, Investigational 13422-55-4
7
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
8
Lidocaine Approved, Vet_approved 137-58-6 3676

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Effect of Stellate Ganglion Block Combined With Facial Nerve Block on the Treatment of Idiopathic Facial Paralysis Recruiting NCT04800666 Mecobalamin Tablets
3 Evaluation of Orbital Reconstruction Using Patient Specific 3-D Printed Onlay Versus Pre-Bent Titanium Mesh Not yet recruiting NCT04271137

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
Eye, Bone, Breast, Brain, Cortex, Small Intestine, Adipocyte

Publications for Enophthalmos

Articles related to Enophthalmos:

(show top 50) (show all 1465)
# Title Authors PMID Year
1
Pseudopapilledema in Cockayne syndrome. 61
33681529 2021
2
Incidence of Horner syndrome associated with neuroblastic disease. 61
33174155 2021
3
Quality of life after reconstruction of traumatic orbital floor defects using titanium mesh and medpore: A randomised controlled trial. 61
33665067 2021
4
Zygomaticomaxillary fracture fixation: a prospective comparative evaluation of two-point versus three-point fixation. 61
32712793 2021
5
Computer-Assisted Secondary Orbital Reconstruction. 61
33613833 2021
6
A Natural History of Silent Brain Syndrome over 36 Years: A case report. 61
33722160 2021
7
Overview of tools for the measurement of the orbital volume and their applications to orbital surgery. 61
33041237 2021
8
Orbital Implants in Orbital Fracture Reconstruction: A Ten-Year Series. 61
33613837 2021
9
Endoscopic Endonasal Orbital Floor Fracture Repair With Mucosal Preservation to Reinforce the Fractured Bone. 61
33704978 2021
10
Surgical treatment of enophthalmos in children and adolescents with pure orbital blowout fracture. 61
33390460 2021
11
Visual preservation in congenital orbital fibrosis. 61
32771329 2021
12
Ophthalmic changes in patients with hemifacial atrophy (Parry-Romberg syndrome). 61
33051768 2021
13
A retrospective study to compare the treatment outcomes with and without surgical navigation for fracture of the orbital wall. 61
33246880 2021
14
Clinical outcome following intraoperative computed tomography-assisted secondary orbital reconstruction. 61
32948495 2021
15
Diagnostic performance of mobile cone beam computed tomography versus conventional multi-detector computed tomography in orbital floor fractures: a study on human specimens. 61
32921556 2021
16
Clinical evaluation of the efficacy of materials used for primary reconstruction of orbital floor defects: Meta-analysis. 61
33145908 2021
17
Theoretical model of pediatric orbital trapdoor fractures and provisional personalized 3D printing-assisted surgical solution. 61
33005822 2021
18
Low-Cost, Three-Dimensionally-Printed, Anatomical Models for Optimization of Orbital Wall Reconstruction. 61
33370061 2021
19
Utilizing 3D-Printed Orbital Floor Stamps to Create Patient-Specific Implants for Orbital Floor Reconstruction. 61
32433352 2021
20
Comparison of Nasoseptal Cartilage Graft Versus Titanium Mesh in Reconstruction of Pure Orbital Blowout Fractures. 61
33534312 2021
21
Customized Titanium Reconstruction of Orbital Fractures Using a Mirroring Technique for Virtual Reconstruction and 3D Model Printing. 61
33010215 2021
22
Long-term ophthalmic anatomical and functional outcomes after surgical removal of intraorbital foreign bodies. 61
31690103 2021
23
Enophthalmos as the Initial Systemic Finding of Undiagnosed Metastatic Breast Carcinoma. 61
33536796 2021
24
Endoscopic slide-in orbital wall reconstruction for isolated medial blowout fractures. 61
33663142 2020
25
Radiation-induced neovascular glaucoma: A devastating disease. 61
33380681 2020
26
A rare cause of enophthalmos: Silent sinus syndrome. 61
33250087 2020
27
Self-centering second-generation patient-specific functionalized implants for deep orbital reconstruction. 61
33385579 2020
28
Indicators of dehydration in healthy 4- to 5-day-old dairy calves deprived of feed and water for 24 hours. 61
33222862 2020
29
Oculocardiac reflex in an adult with a trapdoor orbital floor fracture: case report, literature review, and differential diagnosis. 61
33377469 2020
30
Cone-beam computed tomographic imaging of silent sinus syndrome: A case series and a literature review. 61
33409147 2020
31
Surgical Outcomes of Orbital Fracture Reconstruction Using Patient-Specific Implants. 61
33524325 2020
32
Clinical Signs and Intraocular Pressure Changes in Patients with Orbitozygomatic Complex Fractures. 61
33071507 2020
33
Are Inferior Rectus Muscle Displacement and the Fracture's Size Associated With Surgical Repair Decisions and Clinical Outcomes in Patients With Pure Blowout Orbital Fracture? 61
32659275 2020
34
Surgical Advances in the Management of the Silent Sinus Syndrome: Our Experience and Review of the Literature. 61
32814031 2020
35
Volumetric Versus Empirical Determination of Enucleation Implant Size. 61
33237669 2020
36
Endoscopic repair of combined orbital floor and medial wall fractures involving the inferomedial strut. 61
33235341 2020
37
Effective Reduction of Orbital Floor Fracture With Customized Balloon Using Contrast Agent And Micro Saw. 61
33229994 2020
38
Prediction of Post-Traumatic Enophthalmos Based on Orbital Volume Measurements: A Systematic Review. 61
32649892 2020
39
Enophthalmos in silent brain syndrome. 61
33120681 2020
40
Enophthalmos as a prognostic factor in blow-out fracture of the orbit. Retrospective study of over 700 cases. 61
33582745 2020
41
[IgG4-Related Orbitopathy as an Important Differential Diagnosis of Advanced Silent Sinus Syndrome. German version]. 61
32060570 2020
42
A Medial Orbital Wall Fracture From Cricket Bat During Training: Surgical Approach. 61
33214949 2020
43
Post-traumatic enophthalmos secondary to orbital fat atrophy: a volumetric analysis. 61
31726012 2020
44
Automatic evaluation of the orbital shape after application of conventional and patient-specific implants: Correlation of initial trauma patterns and outcome. 61
33088705 2020
45
Surgical indication analysis according to bony defect size in pediatric orbital wall fractures. 61
33143394 2020
46
Orbital Bony Reconstruction With Presized and Precontoured Porous Polyethylene-Titanium Implants. 61
32976336 2020
47
Associated Ophthalmic Injuries in Patients With Fractures of the Midface. 61
33456682 2020
48
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. 61
32534992 2020
49
Anophthalmic Ptosis and the Effects of Enucleation on Upper Eyelid Function. 61
32852373 2020
50
Endoscopic Endonasal Orbital Floor Fracture Repair With Mucosal Preservation to Reinforce the Fractured Bone. 61
32796310 2020

Variations for Enophthalmos

ClinVar genetic disease variations for Enophthalmos:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 GRCh37: 7:66459197-66459197
GRCh38: 7:66994210-66994210
2 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) Duplication Pathogenic 162159 rs724159954 GRCh37: 21:38862655-38862656
GRCh38: 21:37490353-37490354
3 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 GRCh37: 21:38877655-38877655
GRCh38: 21:37505352-37505352
4 overlap with 12 genes NC_000021.8:g.(?_38007970)_(39747620_?)del Deletion Pathogenic 162157 GRCh37: 21:38007970-39747620
GRCh38:
5 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) Duplication Pathogenic 162156 rs724159952 GRCh37: 21:38862753-38862754
GRCh38: 21:37490451-37490452
6 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) Duplication Pathogenic 162161 rs724159956 GRCh37: 21:38868551-38868552
GRCh38: 21:37496249-37496250
7 DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) Indel Pathogenic 162154 rs724159950 GRCh37: 21:38858873-38858876
GRCh38: 21:37486571-37486574
8 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic 162153 rs724159949 GRCh37: 21:38858865-38858865
GRCh38: 21:37486563-37486563
9 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) SNV Pathogenic 162152 rs724159948 GRCh37: 21:38862575-38862575
GRCh38: 21:37490273-37490273
10 DYRK1A NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) SNV Likely pathogenic 162160 rs724159955 GRCh37: 21:38884305-38884305
GRCh38: 21:37512002-37512002
11 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV Likely pathogenic 449095 rs120074160 GRCh37: 7:66459273-66459273
GRCh38: 7:66994286-66994286
12 DYRK1A NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro) SNV Likely pathogenic 162155 rs724159951 GRCh37: 21:38865403-38865403
GRCh38: 21:37493101-37493101
13 SLC9A6 NM_006359.3(SLC9A6):c.1632-19_1632-3del Deletion Likely pathogenic 598968 rs1569525894 GRCh37: X:135122214-135122230
GRCh38: X:136040055-136040071
14 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) SNV Uncertain significance 523482 rs1332140763 GRCh37: 2:121746134-121746134
GRCh38: 2:120988558-120988558
15 CHRNB2 NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) SNV Uncertain significance 205066 rs199885651 GRCh37: 1:154542807-154542807
GRCh38: 1:154570331-154570331

Expression for Enophthalmos

Search GEO for disease gene expression data for Enophthalmos.

Pathways for Enophthalmos

GO Terms for Enophthalmos

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

# Name GO ID Score Top Affiliating Genes
1 microfibril GO:0001527 8.62 FBN2 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transport GO:0071577 9.43 SLC39A7 SLC39A13
2 response to X-ray GO:0010165 9.4 ERCC8 ERCC6
3 sympathetic nervous system development GO:0048485 9.37 PHOX2A NF1
4 camera-type eye development GO:0043010 9.33 PRSS56 FBN2 FBN1
5 single strand break repair GO:0000012 9.32 ERCC8 ERCC6
6 embryonic eye morphogenesis GO:0048048 9.26 FBN2 FBN1
7 double-strand break repair via classical nonhomologous end joining GO:0097680 8.96 ERCC8 ERCC6
8 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 FBN2 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 9.16 SLC39A7 SLC39A13
2 metal ion transmembrane transporter activity GO:0046873 8.96 SLC39A7 SLC39A13
3 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN2 FBN1

Sources for Enophthalmos

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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