Aliases & Classifications for Exophthalmos

MalaCards integrated aliases for Exophthalmos:

Name: Exophthalmos 12 76 44 15 73
Proptosis 12 29 55 6

Classifications:



External Ids:

Disease Ontology 12 DOID:9370
ICD10 33 H05.20
ICD9CM 35 376.30
MeSH 44 D005094
UMLS 73 C0015300

Summaries for Exophthalmos

Disease Ontology : 12 An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.

MalaCards based summary : Exophthalmos, also known as proptosis, is related to crouzon syndrome and myxedema, and has symptoms including exophthalmos, unilateral An important gene associated with Exophthalmos is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are MAPK signaling pathway and Angiogenesis (CST). The drugs Hyaluronic acid and Propylthiouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and bone, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 76 Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye... more...

Related Diseases for Exophthalmos

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 32.1 FGFR2 FGFR3 TGFB1
2 myxedema 30.9 TG TSHR
3 hyperthyroidism 30.3 PRL TG TSHR
4 orbital disease 30.1 RHNO1 TSHR
5 strabismus 29.5 FGFR2 FGFR3 NF1
6 pulsating exophthalmos 12.1
7 endocrine exophthalmos 12.1
8 thyrotoxic exophthalmos 12.1
9 constant exophthalmos 11.9
10 intermittent proptosis 11.4
11 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.2
12 enophthalmos 11.2
13 cavernous sinus thrombosis 11.2
14 melnick-needles syndrome 11.0
15 bohring-opitz syndrome 11.0
16 luxation of globe 11.0
17 raine syndrome 10.9
18 craniofacial dysostosis with diaphyseal hyperplasia 10.8
19 camurati-engelmann disease 10.8
20 prolidase deficiency 10.8
21 juvenile ossifying fibroma 10.8
22 petit-fryns syndrome 10.8
23 rozin hertz goodman syndrome 10.8
24 benign struma ovarii 10.7 TG TSHR
25 neonatal hypothyroidism 10.7 TG TSHR
26 athyreosis 10.6 TG TSHR
27 struma ovarii 10.6 TG TSHR
28 endemic goiter 10.6 TG TSHR
29 otomycosis 10.6 FLNA RHNO1
30 hypothyroidism, congenital, nongoitrous, 2 10.6 TG TSHR
31 graves disease 1 10.6 TG TSHR
32 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.6 FGFR2 TG
33 nontoxic goiter 10.5 TG TSHR
34 toxic diffuse goiter 10.5 TG TSHR
35 subacute thyroiditis 10.5 TG TSHR
36 hypothyroidism, congenital, nongoitrous, 4 10.5 PRL TG
37 myelodysplastic myeloproliferative cancer 10.5 ASXL1 NF1
38 hemifacial hyperplasia 10.4 FGFR2 FGFR3
39 plagiocephaly 10.4 FGFR2 FGFR3
40 osteoglophonic dysplasia 10.4 FGFR2 FGFR3
41 luteoma 10.4 FGFR2 FGFR3
42 obstructive hydrocephalus 10.4 NF1 PRL
43 beare-stevenson cutis gyrata syndrome 10.4 FGFR2 FGFR3
44 jackson-weiss syndrome 10.3 FGFR2 FGFR3
45 papillary thyroid microcarcinoma 10.3 TG TSHR
46 differentiated thyroid carcinoma 10.3 TG TGFB1 TSHR
47 amyloid tumor 10.3 NF1 TG
48 thyroiditis 10.3
49 spinal meningioma 10.3 NF1 TG
50 thyroid gland disease 10.2 PRL TG TSHR

Comorbidity relations with Exophthalmos via Phenotypic Disease Network (PDN):


Hypothyroidism

Graphical network of the top 20 diseases related to Exophthalmos:



Diseases related to Exophthalmos

Symptoms & Phenotypes for Exophthalmos

UMLS symptoms related to Exophthalmos:


exophthalmos, unilateral

GenomeRNAi Phenotypes related to Exophthalmos according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 FGFR3 SCYL1

MGI Mouse Phenotypes related to Exophthalmos:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 TSHR FGFR2 ASXL1 FGFR3 FLNA SCYL1
2 hematopoietic system MP:0005397 10.16 ASXL1 FGFR3 CD34 FLNA FGFR2 SCYL1
3 cellular MP:0005384 10.14 TSHR FGFR2 ASXL1 FGFR3 CD34 TGFB1
4 growth/size/body region MP:0005378 10.13 TSHR FLNA FGFR2 ASXL1 FGFR3 SCYL1
5 homeostasis/metabolism MP:0005376 10.13 TSHR FGFR2 ASXL1 FGFR3 CD34 FLNA
6 immune system MP:0005387 10.1 TSHR ASXL1 FGFR3 CD34 FLNA FGFR2
7 endocrine/exocrine gland MP:0005379 10.04 TSHR FGFR2 ASXL1 PRL TG NF1
8 craniofacial MP:0005382 10 FLNA FGFR2 ASXL1 FGFR3 NF1 TGFB1
9 digestive/alimentary MP:0005381 9.99 FGFR2 ASXL1 FGFR3 FLNA NF1 TGFB1
10 neoplasm MP:0002006 9.92 ASXL1 FGFR3 CD34 FGFR2 TSHR NF1
11 nervous system MP:0003631 9.91 TSHR FLNA FGFR2 FGFR3 SCYL1 TG
12 liver/biliary system MP:0005370 9.85 FLNA FGFR2 ASXL1 NF1 TGFB1 PRL
13 reproductive system MP:0005389 9.7 TSHR FGFR2 FGFR3 FLNA SCYL1 TGFB1
14 skeleton MP:0005390 9.56 TSHR ASXL1 FGFR3 FLNA FGFR2 SCYL1
15 vision/eye MP:0005391 9.23 ASXL1 FGFR3 FLNA FGFR2 SCYL1 TSHR

Drugs & Therapeutics for Exophthalmos

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

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
2
Propylthiouracil Approved, Investigational Phase 4,Phase 3,Phase 2 51-52-5 657298
3
Acetylcholine Approved Phase 4,Phase 2,Phase 3 51-84-3 187
4
Iodine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 7553-56-2 807
5
Triamcinolone Approved, Vet_approved Phase 4,Not Applicable 124-94-7 31307
6
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
7
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
8
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
9
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
10
Ephedrine Approved Phase 4 299-42-3 9294
11
Pseudoephedrine Approved Phase 4 90-82-4 7028
12
Methotrexate Approved Phase 4,Not Applicable 1959-05-2, 59-05-2 126941
13
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
14
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1 50-02-2 5743
15
Propranolol Approved, Investigational Phase 4,Phase 3,Not Applicable 525-66-6 4946
16
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
17
Bimatoprost Approved, Investigational Phase 4,Phase 3 155206-00-1 5311027
18
Dinoprost Tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
19
leucovorin Approved, Nutraceutical Phase 4,Not Applicable 58-05-9 143 6006
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
21
Dinoprost Investigational Phase 4 551-11-1 5283078
22 triamcinolone acetonide Phase 4,Not Applicable
23 cadexomer iodine Phase 4,Phase 3,Phase 2,Not Applicable
24 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
25 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 abobotulinumtoxinA Phase 4,Phase 2,Phase 3
27 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable
28 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
29 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
30 Adjuvants, Immunologic Phase 4,Not Applicable
31 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
32 Cholinergic Agents Phase 4,Phase 2,Phase 3
33 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Neuromuscular Agents Phase 4,Phase 2,Phase 3
35 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
36 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
37 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
38 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
40 Anesthetics, Local Phase 4,Phase 2,Phase 3,Not Applicable
41 onabotulinumtoxinA Phase 4,Phase 2,Phase 3
42 Ophthalmic Solutions Phase 4,Phase 2
43 Triamcinolone diacetate Phase 4,Not Applicable
44 Triamcinolone hexacetonide Phase 4,Not Applicable
45 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Viscosupplements Phase 4,Not Applicable
48 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
50 Immunosuppressive Agents Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 118)
# Name Status NCT ID Phase Drugs
1 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
2 Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Unknown status NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
3 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
4 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
5 Prostaglandin F2-alpha Eye Drops in Thyroid Eye Disease (Bima Study) Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
6 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
7 Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease Completed NCT00946296 Phase 4 Potassium Iodide
8 Antithyroid Drugs During Radioiodine Therapy Completed NCT00150137 Phase 4 Methimazole
9 Block-replacement Therapy During Radioiodine Therapy Completed NCT00150124 Phase 4 MTZ+LT4;Methimazole
10 Prevention Relapse of Graves' Disease by Intrathyroid Injection of Dexamethasone Completed NCT00917241 Phase 4 MMI combined with IID;MMI
11 Is the Routine Pressure Dressing After Thyroidectomy Necessary? Completed NCT00400465 Phase 4
12 Using A Novel Classification System in Intravenous GCs Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
13 Rituximab (RTX) Therapy in Patients With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
14 A Trial to Evaluate the Efficacy of Orbital Radiotherapy in Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4 Methylprednisolone
15 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
16 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
17 Use of Botox in the Management of Thyroid Related Upper Eyelid Retraction Withdrawn NCT01272414 Phase 4 Botulinum Toxin Type A;Saline injection
18 The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions Unknown status NCT01204359 Phase 3
19 Prednisone Versus Doxycycline in the Treatment of Graves' Orbitopathy Unknown status NCT01809444 Phase 2, Phase 3 Prednisone+placebo of Doxycycline;Doxycycline+placebo of Prednisone
20 Early Levothyroxine Post Radioactive Iodine Unknown status NCT01950260 Phase 2, Phase 3 Levothyroxine
21 Effect of Percutaneous Botulinum Toxin A Injection on Natural Course of Upper Lid Retraction in Thyroid Eye Disease Unknown status NCT00370734 Phase 2, Phase 3 Botulinum toxin A injection
22 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Completed NCT02155049 Phase 3 bimatoprost 0.03%
23 Trial of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
24 Assessing the Impact of the Early and Systematic Hormonal Replacement After Radio-isotopic Ablation of Graves'hyperthyroïdism on Quality of Life, Efficiency and Tolerance Completed NCT01295333 Phase 3 the early prophylactic introduction of low dose of LT4 (50 µg/d) at 15 days post-ablation;The initiation of LT4 as soon as the first biological signs of hypothyroidism.
25 Comparison of Different Doses of 131I in Severe Graves' Hyperthyroidism Completed NCT01039818 Phase 3
26 Tocilizumab Treatment in Graves´ Ophthalmopathy (Graves´ Orbitopathy or Thyroid Eye Disease) Completed NCT01297699 Phase 3 Tocilizumab (RoActemra®);Sterile 0.9% Sodium Chloride
27 Treatment of Graves' Orbitopathy (Thyroid Eye Disease) to Reduce Proptosis With Teprotumumab Infusions in a Randomized, Placebo-Controlled, Clinical Study Recruiting NCT03298867 Phase 3
28 The Effect of Intravenous Glucocorticoids on the Tearfilm in Eyes With Thyroid-associated Ophthalmopathy Recruiting NCT01579539 Phase 3 Methylprednisolone;Esomeprazole
29 Efficacy and Safety of Cholestyramine and Prednisolone as Adjunctive Therapy in Treatment of Overt Hyperthyroidism Recruiting NCT03303053 Phase 3 Cholestyramine Powder 4g;Prednisolone;Standard treatment
30 Total Thyroidectomy Versus Thionamides in Patients With Moderate-to-Severe Graves' Ophthalmopathy Recruiting NCT03066076 Phase 3 Antithyroid Drug
31 Treatment of Graves´Ophthalmopathy With Diclofenac or Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg;Diclofenac Potassium 50 MG
32 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
33 Treatment of Graves' Orbitopathy to Reduce Proptosis With Teprotumumab Infusions in an Open-Label Clinical Extension Study Enrolling by invitation NCT03461211 Phase 3
34 The Effect of a New Antioxidant Combination (ASTED) on Moderate to Severe Thyroid Eye Disease Not yet recruiting NCT02422368 Phase 2, Phase 3 Methylprednisolone + ASTED;Methylprednisolone +Placebo
35 The Effect of a New Antioxidant Combination (ASTED) on Mild Thyroid Eye Disease (TED) Not yet recruiting NCT02393183 Phase 2, Phase 3 ASTED
36 Doxycycline Treatment in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
37 Role of the Microbiome in Graves' Orbitopathy Unknown status NCT02373995 Phase 1, Phase 2
38 Pilot Study to Determine Safety and Efficacy of Orbital Injections of LIPO-102 in Patients With Symptomatic Exophthalmos Associated With Thyroid-related Eye Disease (TED) Completed NCT00954057 Phase 2 LIPO-102;Placebo
39 Teprotumumab (RV 001) Treatment in Patients With Active Thyroid Eye Disease Completed NCT01868997 Phase 2 teprotumumab;normal saline
40 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy Completed NCT01727973 Phase 1, Phase 2 Doxycycline
41 Rituximab Treatment of Graves' Dysthyroid Ophthalmopathy Completed NCT00424151 Phase 1, Phase 2 Rituximab
42 Effects Of Oral Alfacalcidol On Maturation Of Dendritic Cells In Graves' Disease Patients Completed NCT02993302 Phase 2 1α-D3;Placebos
43 A Study to Evaluate the Safety and Effect of CFZ533 on Patients With Graves' Disease Completed NCT02713256 Phase 2 CFZ533
44 Radioactive Iodide Therapy for Pediatric Graves' Disease Completed NCT01269749 Phase 2 ATD Group
45 Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
46 rhTSH, Thyroid Size, and Radioiodine Therapy in Benign Goiter Completed NCT00145366 Phase 2 Recombinant human thyrotropin (Thyrogen)
47 Celecoxib for Thyroid Eye Disease Recruiting NCT02845336 Phase 2 Celecoxib;artificial tears
48 Effects of Atorvastatin in Graves' Orbitopathy (GO) Not yet recruiting NCT03110848 Phase 2 Atorvastatin;Methylprednisolone
49 Lanreotide (Somatuline Autogel) in Thyroid-associated Ophthalmopathy Treatment Terminated NCT00288522 Phase 2 Lanreotide (Autogel formulation). Duration of treatment - 3 injections, 1 every 28 days
50 A Safety and Tolerability Study of Otelixizumab in Thyroid Eye Disease Terminated NCT01114503 Phase 2 Otelixizumab - low dose;Otelixizumab - medium low dose;Otelixizumab - medium high dose;Otelixizumab - high dose;Otelixizumab;Methylprednisolone

Search NIH Clinical Center for Exophthalmos

Cochrane evidence based reviews: exophthalmos

Genetic Tests for Exophthalmos

Genetic tests related to Exophthalmos:

# Genetic test Affiliating Genes
1 Proptosis 29

Anatomical Context for Exophthalmos

MalaCards organs/tissues related to Exophthalmos:

41
Eye, Thyroid, Bone, B Cells, Pituitary, T Cells, Lung

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 608)
# Title Authors Year
1
Exophthalmos in a young woman with no graves' disease - a case report of IgG4-related orbitopathy. ( 29329570 )
2018
2
Utility of rituximab treatment for exophthalmos, myxedema, and osteoarthropathy syndrome resistant to corticosteroids due to Graves' disease: a case report. ( 29448964 )
2018
3
Computed Tomography Measurements as a Standard of Exophthalmos? Two-Dimensional Versus Three-Dimensional Techniques. ( 29377729 )
2018
4
Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report. ( 29343284 )
2018
5
Unilateral Exophthalmos due to Lymphomatous Involvement. ( 29279476 )
2017
6
Regression of Ophthalmopathic Exophthalmos in Graves' Disease After Total Thyroidectomy: a Prospective Study of a Surgical Series. ( 29217903 )
2017
7
Odontogenic parakeratinized cyst resulting in exophthalmos and palatine, maxillary, and zygomatic bone erosion in a dog. ( 29251408 )
2017
8
Exophthalmos and hyperparathyroidism. ( 28750881 )
2017
9
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017
10
Spontaneous Unilateral Subperiosteal Hematoma in the Orbit due to Self-Induced Asphyxia: Unusual Cause of Unilateral Exophthalmos. ( 28512426 )
2017
11
Exophthalmos due to sterile neutrophilic dermatosis in a dog. ( 28294507 )
2017
12
Exophthalmos associated to orbital zygomatic mucocele and complex maxillary malformation in a puppy. ( 28884074 )
2017
13
Exophthalmos (Graves' orbitopathy) in an ancient sculpture. ( 27098805 )
2016
14
Osteoblastoma of the maxillary sinus in a child presenting with exophthalmos. ( 26895762 )
2016
15
Treatment of exophthalmos and strabismus surgery in thyroid-associated orbitopathy. ( 26775634 )
2016
16
Exophthalmos, Diplopia, and Bilateral Eyelid Edema: Symptoms of Ocular Mastocytosis. ( 27560850 )
2016
17
The First Reported Case of Erdheim-Chester Disease in Egypt with Bilateral Exophthalmos, Loss of Vision, and Multi-Organ Involvement in a Young Woman. ( 27237445 )
2016
18
Acute Myeloid Leukemia with Initial Presentation of Facial Palsy and Exophthalmos. ( 27411795 )
2016
19
Erdheim-Chester Disease Presenting With Intractable Exophthalmos and Bone Lesions. ( 27865309 )
2016
20
Mild Camuratia89Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report. ( 27484238 )
2016
21
Exophthalmos Revealing a Krukenberg Tumor: A Case Presentation and Review of the Literature. ( 27721760 )
2016
22
Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1. ( 27280756 )
2016
23
A rare cause of exophthalmos in children. ( 26895765 )
2016
24
Radiation therapy as part of the therapeutic regimen for extensive multilocular myxedema in a patient with exophthalmos, myxedema and osteoarthropathy syndrome: A case report. ( 26137080 )
2015
25
Dynamic exophthalmos and lateral strabismus in a dog caused by masticatory muscle myositis. ( 25728848 )
2015
26
A Hypothesis for the Pathologic Mechanism of Idiopathic Exophthalmos Based on Computed Tomographic Evaluations. ( 26114529 )
2015
27
Ethmoid pneumocele presenting with exophthalmos 15 years after endoscopic sinus surgery. ( 26302735 )
2015
28
Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings. ( 25674346 )
2015
29
Partial thickness autologus calvarial bone orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos. ( 25972944 )
2015
30
Relation of the Vector Force Needed to Lift the Upper Eyelids and the Degree of Exophthalmos. ( 26086928 )
2015
31
The philosopher Socrates had exophthalmos (a term coined by Plato) and probably Graves' disease. ( 25553768 )
2015
32
Cholesterol granuloma of a Haller cell associated with unilateral exophthalmos and diplopia. ( 26719083 )
2015
33
Slowly progressive Lemierre's syndrome with orbital pain and exophthalmos. ( 26419364 )
2015
34
Posttraumatic pulsating exophthalmos in a child. ( 24119872 )
2014
35
A mysterious post-traumatic pulsatile exophthalmos. ( 24022797 )
2014
36
Pulsatile exophthalmos: effect of orthostatic pressure difference. ( 24407832 )
2014
37
Exophthalmos Myxedema Acropachy Syndrome: A Case Report. ( 26060688 )
2014
38
Dural arteriovenous fistula presenting with exophthalmos and seizures. ( 24439472 )
2014
39
Orbital reconstruction for pulsatile exophthalmos secondary to sphenoid wing dysplasia. ( 24835868 )
2014
40
Exophthalmos due to odontogenic intraorbital abscess in Cebus apella. ( 23311626 )
2013
41
Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome. ( 23555062 )
2013
42
Palpebral ptosis, fixed mydriasis and exophthalmos: an uncommon presentation of new diabetes mellitus. ( 22907808 )
2013
43
Fronto-orbital osteoma. Answer to the e-quid "Unilateral exophthalmos in a 30-year-old man". ( 23294927 )
2013
44
Exophthalmos as a first manifestation of the systemic spread of small cell lung cancer. ( 24059030 )
2013
45
CT features of exophthalmos in Chinese subjects with thyroid-associated ophthalmopathy. ( 23638413 )
2013
46
Loss of visual acuity on the left eye and ipsilateral exophthalmos in a 68-year-old male patient. ( 24313789 )
2013
47
Arachnoid Cyst in the Middle Cranial Fossa Presenting with Pulsatile Exophthalmos: Case Report and Literature Review. ( 24305013 )
2013
48
A new approach to aesthetic maxillofacial surgery: surgical treatment of unilateral exophthalmos due to maxillary sinus mucocele. ( 23714910 )
2013
49
Case of recurrent exophthalmos: angioedema versus idiopathic orbital pseudotumor. ( 24565625 )
2013
50
Intradiploic hematoma of the frontal bone with secondary exophthalmos in a mare. ( 23953510 )
2013

Variations for Exophthalmos

ClinVar genetic disease variations for Exophthalmos:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MATN4 NM_030590.3(MATN4): c.515G> C (p.Gly172Ala) single nucleotide variant Likely pathogenic rs730882210 GRCh38 Chromosome 20, 45304356: 45304356
2 MATN4 NM_030590.3(MATN4): c.515G> C (p.Gly172Ala) single nucleotide variant Likely pathogenic rs730882210 GRCh37 Chromosome 20, 43932996: 43932996
3 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
4 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947

Expression for Exophthalmos

Search GEO for disease gene expression data for Exophthalmos.

Pathways for Exophthalmos

Pathways related to Exophthalmos according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.69 FGFR2 FGFR3 FLNA NF1 TGFB1
2 11.28 FGFR2 FGFR3 TGFB1
3 10.78 NF1 TGFB1
4 9.73 TG TSHR

GO Terms for Exophthalmos

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 CD34 FGFR2 FGFR3 FLNA PRL TG
2 receptor complex GO:0043235 9.33 FGFR2 FGFR3 TSHR
3 cell surface GO:0009986 9.02 CD34 FGFR2 FGFR3 TGFB1 TSHR

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.71 FGFR2 FGFR3 NF1 TGFB1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR2 FGFR3 SCYL1
3 positive regulation of protein kinase B signaling GO:0051897 9.63 FGFR2 FGFR3 TGFB1
4 wound healing GO:0042060 9.61 FGFR2 NF1 TGFB1
5 cellular response to ionizing radiation GO:0071479 9.56 RHNO1 TGFB1
6 bone morphogenesis GO:0060349 9.55 FGFR2 FGFR3
7 positive regulation of cell proliferation GO:0008284 9.55 FGFR2 FGFR3 PRL TGFB1 TSHR
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.54 FGFR3 TGFB1
9 regulation of multicellular organism growth GO:0040014 9.52 FGFR2 PRL
10 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 FGFR2 TGFB1
11 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.48 PRL TGFB1
12 positive regulation of phospholipase activity GO:0010518 9.37 FGFR2 FGFR3
13 positive regulation of adenylate cyclase activity GO:0045762 9.32 NF1 TSHR
14 endochondral bone growth GO:0003416 9.26 FGFR2 FGFR3
15 negative regulation of neuroblast proliferation GO:0007406 8.96 NF1 TGFB1
16 positive regulation of odontogenesis GO:0042482 8.62 CD34 TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.33 FGFR2 FGFR3 SCYL1
2 fibroblast growth factor binding GO:0017134 8.96 FGFR2 FGFR3
3 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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