Aliases & Classifications for Exophthalmos

MalaCards integrated aliases for Exophthalmos:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:9370
ICD10 33 H05.20
ICD9CM 35 376.30
MeSH 44 D005094
SNOMED-CT 68 18265008
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 orbital cellulitis, 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 Propylthiouracil and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and pituitary, 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 359)
# Related Disease Score Top Affiliating Genes
1 crouzon syndrome 32.1 FGFR2 FGFR3 TGFB1
2 orbital cellulitis 31.8 OPTN RHNO1
3 myxedema 30.7 TG TSHR
4 hyperthyroidism 30.5 PRL TG TSHR
5 cranial nerve palsy 30.0 RHNO1 SCYL1
6 spinal meningioma 29.8 NF1 TG
7 postsurgical hypothyroidism 29.8 TG TSHR
8 strabismus 29.8 FGFR2 FGFR3 NF1
9 orbital disease 29.8 RHNO1 TSHR
10 graves disease 1 29.7 TG TSHR
11 hydrocephalus 29.6 FGFR2 FGFR3 FLNA PRL TGFB1
12 optic nerve neoplasm 29.4 NF1 OPTN
13 endocrine exophthalmos 12.4
14 thyrotoxic exophthalmos 12.4
15 pulsating exophthalmos 12.3
16 constant exophthalmos 12.1
17 cole-carpenter syndrome 1 11.7
18 cole-carpenter syndrome 11.7
19 intermittent proptosis 11.5
20 sanderson fraser syndrome 11.4
21 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
22 enophthalmos 11.3
23 cavernous sinus thrombosis 11.3
24 pfeiffer syndrome 11.2
25 melnick-needles syndrome 11.1
26 bohring-opitz syndrome 11.1
27 luxation of globe 11.1
28 elsahy-waters syndrome 11.1
29 neu-laxova syndrome 1 11.1
30 premature aging syndrome, penttinen type 11.1
31 raine syndrome 11.0
32 craniofacial dysostosis with diaphyseal hyperplasia 11.0
33 camurati-engelmann disease 11.0
34 prolidase deficiency 11.0
35 frias syndrome 11.0
36 juvenile ossifying fibroma 11.0
37 petit-fryns syndrome 11.0
38 rozin hertz goodman syndrome 11.0
39 membranous cranial ossification, delayed 10.9
40 thanatophoric dysplasia, type ii 10.9
41 van buchem disease 10.9
42 acrofrontofacionasal dysostosis 2 10.9
43 hypomandibular faciocranial dysostosis 10.9
44 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.9
45 nestor-guillermo progeria syndrome 10.9
46 short stature with microcephaly and distinctive facies 10.9
47 neu-laxova syndrome 2 10.9
48 cole-carpenter syndrome 2 10.9
49 kosaki overgrowth syndrome 10.9
50 marfan lipodystrophy syndrome 10.9

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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.23 ASXL1 CD34 FGFR2 FGFR3 FLNA NF1
2 behavior/neurological MP:0005386 10.22 ASXL1 FGFR2 FGFR3 FLNA NF1 PRL
3 homeostasis/metabolism MP:0005376 10.22 ASXL1 CD34 FGFR2 FGFR3 FLNA NF1
4 hematopoietic system MP:0005397 10.19 ASXL1 CD34 FGFR2 FGFR3 FLNA NF1
5 cellular MP:0005384 10.16 ASXL1 CD34 FGFR2 FGFR3 FLNA NF1
6 growth/size/body region MP:0005378 10.16 ASXL1 FGFR2 FGFR3 FLNA NF1 SCYL1
7 digestive/alimentary MP:0005381 10.08 ASXL1 FGFR2 FGFR3 FLNA NF1 TG
8 endocrine/exocrine gland MP:0005379 10.07 ASXL1 FGFR2 NF1 PRL TG TGFB1
9 craniofacial MP:0005382 10.02 ASXL1 FGFR2 FGFR3 FLNA NF1 TGFB1
10 mortality/aging MP:0010768 10.02 ASXL1 FGFR2 FGFR3 FLNA NF1 OPTN
11 neoplasm MP:0002006 9.92 ASXL1 CD34 FGFR2 FGFR3 NF1 PRL
12 nervous system MP:0003631 9.91 FGFR2 FGFR3 FLNA NF1 PRL SCYL1
13 liver/biliary system MP:0005370 9.88 ASXL1 FGFR2 FLNA NF1 PRL TGFB1
14 limbs/digits/tail MP:0005371 9.83 FGFR2 FGFR3 NF1 TG TSHR
15 reproductive system MP:0005389 9.7 FGFR2 FGFR3 FLNA PRL SCYL1 TGFB1
16 skeleton MP:0005390 9.61 ASXL1 FGFR2 FGFR3 FLNA NF1 SCYL1
17 vision/eye MP:0005391 9.23 ASXL1 FGFR2 FGFR3 FLNA NF1 SCYL1

Drugs & Therapeutics for Exophthalmos

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4,Phase 3,Phase 2 51-52-5 657298
2
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 302-25-0
5
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
6
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable 2921-57-5
7
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
8
Triamcinolone Approved, Vet_approved Phase 4,Not Applicable 124-94-7 31307
9
Iodine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 7553-56-2 807
10
Acetylcholine Approved Phase 4,Phase 2,Phase 3 51-84-3 187
11
Methimazole Approved Phase 4,Phase 1,Phase 2,Not Applicable 60-56-0 1349907
12
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
13
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
14
Propranolol Approved, Investigational Phase 4,Phase 3,Not Applicable 525-66-6 4946
15
Dinoprost Tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
16
Bimatoprost Approved, Investigational Phase 4,Phase 3,Early Phase 1 155206-00-1 5311027
17
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
18
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1 50-02-2 5743
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 1 1177-87-3
20
leucovorin Approved Phase 4,Not Applicable 58-05-9 6006 143
21
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
22
Methotrexate Approved Phase 4,Not Applicable 59-05-2, 1959-05-2 126941
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
24
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Not Applicable 2920-86-7
25 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Antithyroid Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Ophthalmic Solutions Phase 4,Phase 2
31 Viscosupplements Phase 4,Not Applicable
32 Adjuvants, Immunologic Phase 4,Not Applicable
33 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable
34 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Anesthetics, Local Phase 4,Phase 2,Phase 3,Not Applicable
37 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
38 Proxymetacaine Phase 4
39 Protective Agents Phase 4,Phase 2,Phase 3,Not Applicable
40 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
43 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Antiemetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
47 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
50 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 121)
# 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 Liver Function After Intravenous Methylprednisolone Administration Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
8 Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease Completed NCT00946296 Phase 4 Potassium Iodide
9 Antithyroid Drugs During Radioiodine Therapy Completed NCT00150137 Phase 4 Methimazole
10 Block-replacement Therapy During Radioiodine Therapy Completed NCT00150124 Phase 4 MTZ+LT4;Methimazole
11 Prevention Relapse of Graves' Disease by Intrathyroid Injection of Dexamethasone Completed NCT00917241 Phase 4 MMI combined with IID;MMI
12 Is the Routine Pressure Dressing After Thyroidectomy Necessary? Completed NCT00400465 Phase 4
13 Using A Novel Classification System in Intravenous GCs Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
14 Rituximab (RTX) Therapy in Patients With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
15 A Trial to Evaluate the Efficacy of Orbital Radiotherapy in Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4 Methylprednisolone
16 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
17 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
18 Use of Botox in the Management of Thyroid Related Upper Eyelid Retraction Withdrawn NCT01272414 Phase 4 Botulinum Toxin Type A;Saline injection
19 The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions Unknown status NCT01204359 Phase 3
20 Prednisone Versus Doxycycline in the Treatment of Graves' Orbitopathy Unknown status NCT01809444 Phase 2, Phase 3 Prednisone+placebo of Doxycycline;Doxycycline+placebo of Prednisone
21 Early Levothyroxine Post Radioactive Iodine Unknown status NCT01950260 Phase 2, Phase 3 Levothyroxine
22 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
23 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Completed NCT02155049 Phase 3 bimatoprost 0.03%
24 Trial of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
25 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.
26 Comparison of Different Doses of 131I in Severe Graves' Hyperthyroidism Completed NCT01039818 Phase 3
27 Tocilizumab Treatment in Graves´ Ophthalmopathy (Graves´ Orbitopathy or Thyroid Eye Disease) Completed NCT01297699 Phase 3 Tocilizumab (RoActemra®);Sterile 0.9% Sodium Chloride
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 (Thyroid Eye Disease) to Reduce Proptosis With Teprotumumab Infusions in a Randomized, Placebo-Controlled, Clinical Study Active, not recruiting NCT03298867 Phase 3
34 Treatment of Graves' Orbitopathy to Reduce Proptosis With Teprotumumab Infusions in an Open-Label Clinical Extension Study Enrolling by invitation NCT03461211 Phase 3
35 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
36 The Effect of a New Antioxidant Combination (ASTED) on Mild Thyroid Eye Disease (TED) Not yet recruiting NCT02393183 Phase 2, Phase 3 ASTED
37 Doxycycline Treatment in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
38 Role of the Microbiome in Graves' Orbitopathy Unknown status NCT02373995 Phase 1, Phase 2
39 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
40 Teprotumumab (RV 001) Treatment in Patients With Active Thyroid Eye Disease Completed NCT01868997 Phase 2 teprotumumab;normal saline
41 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy Completed NCT01727973 Phase 1, Phase 2 Doxycycline
42 Rituximab Treatment of Graves' Dysthyroid Ophthalmopathy Completed NCT00424151 Phase 1, Phase 2 Rituximab
43 Effects Of Oral Alfacalcidol On Maturation Of Dendritic Cells In Graves' Disease Patients Completed NCT02993302 Phase 2 1α-D3;Placebos
44 A Study to Evaluate the Safety and Effect of CFZ533 on Patients With Graves' Disease Completed NCT02713256 Phase 2 CFZ533
45 Radioactive Iodide Therapy for Pediatric Graves' Disease Completed NCT01269749 Phase 2 ATD Group
46 Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
47 rhTSH, Thyroid Size, and Radioiodine Therapy in Benign Goiter Completed NCT00145366 Phase 2 Recombinant human thyrotropin (Thyrogen)
48 Celecoxib for Thyroid Eye Disease Recruiting NCT02845336 Phase 2 Celecoxib;artificial tears
49 Effects of Atorvastatin in Graves' Orbitopathy (GO) Not yet recruiting NCT03110848 Phase 2 Atorvastatin;Methylprednisolone
50 Lanreotide (Somatuline Autogel) in Thyroid-associated Ophthalmopathy Treatment Terminated NCT00288522 Phase 2 Lanreotide (Autogel formulation). Duration of treatment - 3 injections, 1 every 28 days

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, Pituitary, Bone, Myeloid, Lung, Prostate

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 1577)
# 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
Middle meningeal arteriovenous fistula causing unilateral proptosis. ( 29323004 )
2018
6
Cataract surgery in a case of Rosai-Dorfman disease with proptosis. ( 30274849 )
2018
7
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
8
Comparison of exophthalmos measurements: Hertel exophthalmometer versus orbital parameters in 2-dimensional computed tomography. ( 30119794 )
2018
9
Exophthalmos or pseudo-exophthalmos in the Last Judgement (1535-1541) by Michelangelo Buonarroti (1475-1564). ( 30284219 )
2018
10
Trigeminal hypertrophic interstitial neuropathy presenting as unilateral proptosis, ptosis, tearing, and facial neuralgia. ( 30302419 )
2018
11
Proptosis and hemiplegia as an initial manifestation of multiple myeloma. ( 30117481 )
2018
12
Proptosis with hemiplegia: Unusual presentation of multiple myeloma. ( 30306967 )
2018
13
Orbital and nasal meningoencephaloceles secondary to chronic hydrocephalus: A rare cause of bilateral proptosis. ( 29882488 )
2018
14
A rare case of hypereosinophilic syndrome presenting with unilateral proptosis and torticollis. ( 30249857 )
2018
15
Infantile cortical hyperostosis manifesting as congenital unilateral proptosis. ( 30503007 )
2018
16
Asymmetric proptosis as a presenting symptom of Hashimoto's thyroiditis with hypothyroidism. ( 29540353 )
2018
17
Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 29686128 )
2018
18
Editors' note: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397041 )
2018
19
Reader response: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397042 )
2018
20
Author response: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397043 )
2018
21
Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397047 )
2018
22
Bilateral Proptosis in a Child: A Rare Presentation of Acute Lymphoblastic Leukemia. ( 30479725 )
2018
23
Chronic lymphocytic leukemia presenting as unilateral extraocular muscle enlargement and proptosis. ( 29563701 )
2018
24
Olfactory Neuroblastoma: A Rare Cause of External Ophthalmoplegia, Proptosis and Compressive Optic Neuropathy. ( 29755824 )
2018
25
Primary Neuroendocrine Tumor of the Orbit Presenting With Acute Proptosis. ( 28746252 )
2018
26
Greater Proptosis Is Not Associated With Improved Compressive Optic Neuropathy in Thyroid Eye Disease. ( 29851756 )
2018
27
A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report. ( 29283150 )
2018
28
Gorham-Stout Disease Presenting as Acute Unilateral Proptosis. ( 28837441 )
2018
29
Diplopia, Proptosis, and Joint Pain: Possibility of Osseous and Orbital Sarcoidosis. ( 29292316 )
2018
30
Sphenoid meningioma enplaque with proptosis: Surgical excision, reconstruction and outcome. ( 29501044 )
2018
31
Hydatidosis of infratemporal fossa with proptosis - an unusual presentation: a case report and review of the literature. ( 30326941 )
2018
32
Chronic Hematic Cyst of the Right Maxillary Sinus and Orbit Presenting as Proptosis. ( 29356716 )
2018
33
Unilateral proptosis as initial presenting sign of prostate cancer in a 45-year-old man. ( 29359113 )
2018
34
Hepatobiliary and Pancreatic: Hepatocellular carcinoma diagnosed by proptosis due to metastatic orbital mass. ( 29542243 )
2018
35
Acute Onset Unilateral Proptosis. ( 29660350 )
2018
36
A 12-Month-Old Boy With Bilateral Facial Swelling and Proptosis. ( 29677235 )
2018
37
Proptosis and Double Vision in a Child. ( 29868769 )
2018
38
Considerations in Pediatric Proptosis. ( 30027258 )
2018
39
Reversible proptosis due to a hematological cause. ( 30057995 )
2018
40
Surgical Correction of Proptosis in Craniofacial Benign Bone Lesions Involving the Orbit. ( 30074961 )
2018
41
Bilateral hemorrhagic proptosis due to an uncommon cause in ocular emergency. ( 30127177 )
2018
42
Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma. ( 30145194 )
2018
43
Non-axial proptosis secondary to pneumosinus dilatans of the maxillary sinus. ( 30224890 )
2018
44
Late proptosis and ophthalmoplegia from hydrogel scleral buckle. ( 30340740 )
2018
45
Bilateral Sequential Acute Proptosis in a Woman With No History of Trauma. ( 30476932 )
2018
46
Unilateral Exophthalmos due to Lymphomatous Involvement. ( 29279476 )
2017
47
Regression of Ophthalmopathic Exophthalmos in Graves' Disease After Total Thyroidectomy: a Prospective Study of a Surgical Series. ( 29217903 )
2017
48
Odontogenic parakeratinized cyst resulting in exophthalmos and palatine, maxillary, and zygomatic bone erosion in a dog. ( 29251408 )
2017
49
Exophthalmos and hyperparathyroidism. ( 28750881 )
2017
50
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017

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 cell surface GO:0009986 9.02 CD34 FGFR2 FGFR3 TGFB1 TSHR

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.72 FGFR2 FGFR3 PRL TGFB1 TSHR
2 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR2 FGFR3 SCYL1
3 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR2 FGFR3 TGFB1
4 wound healing GO:0042060 9.63 FGFR2 NF1 TGFB1
5 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
6 digestive tract development GO:0048565 9.58 FGFR2 TGFB1
7 cellular response to ionizing radiation GO:0071479 9.57 RHNO1 TGFB1
8 positive regulation of protein import into nucleus GO:0042307 9.56 FLNA TGFB1
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.55 FGFR3 TGFB1
10 regulation of multicellular organism growth GO:0040014 9.54 FGFR2 PRL
11 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.52 PRL TGFB1
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.48 FGFR2 TGFB1
13 positive regulation of adenylate cyclase activity GO:0045762 9.43 NF1 TSHR
14 positive regulation of phospholipase activity GO:0010518 9.4 FGFR2 FGFR3
15 endochondral bone growth GO:0003416 9.37 FGFR2 FGFR3
16 positive regulation of epithelial cell proliferation GO:0050679 9.33 FGFR2 PRL TGFB1
17 negative regulation of neuroblast proliferation GO:0007406 9.26 NF1 TGFB1
18 MAPK cascade GO:0000165 9.26 FGFR2 FGFR3 NF1 TGFB1
19 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

Sources for Exophthalmos

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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