Aliases & Classifications for Exophthalmos

MalaCards integrated aliases for Exophthalmos:

Name: Exophthalmos 12 77 45 15 74
Proptosis 12 30 56 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:9370
ICD9CM 36 376.30
MeSH 45 D005094
SNOMED-CT 69 18265008
ICD10 34 H05.20
UMLS 74 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 graves disease 1 and myxedema, and has symptoms including exophthalmos, unilateral An important gene associated with Exophthalmos is DMD (Dystrophin), and among its related pathways/superpathways are MAPK signaling pathway and Syndecan-2-mediated signaling events. The drugs Propylthiouracil and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye and bone, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 77 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 366)
# Related Disease Score Top Affiliating Genes
1 graves disease 1 30.9 TG TSHR
2 myxedema 30.9 TG TSHR
3 hyperthyroidism 30.6 PRL TG TSHR
4 hypothyroidism 30.3 PRL TG TSHR
5 spinal meningioma 30.1 NF1 TG
6 hydrocephalus 30.0 FGFR2 FLNA PRL TGFB1
7 postsurgical hypothyroidism 30.0 TG TSHR
8 orbital disease 29.9 RHNO1 TSHR
9 cranial nerve palsy 29.8 RHNO1 SCYL1
10 endocrine exophthalmos 12.5
11 thyrotoxic exophthalmos 12.4
12 pulsating exophthalmos 12.3
13 constant exophthalmos 12.1
14 cole-carpenter syndrome 1 11.8
15 cole-carpenter syndrome 11.8
16 intermittent proptosis 11.6
17 crouzon syndrome 11.5
18 sanderson fraser syndrome 11.4
19 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
20 enophthalmos 11.3
21 pfeiffer syndrome 11.3
22 orbital cellulitis 11.3
23 neu-laxova syndrome 1 11.2
24 melnick-needles syndrome 11.2
25 bohring-opitz syndrome 11.2
26 luxation of globe 11.2
27 elsahy-waters syndrome 11.1
28 premature aging syndrome, penttinen type 11.1
29 neu-laxova syndrome 2 11.1
30 raine syndrome 11.1
31 craniofacial dysostosis with diaphyseal hyperplasia 11.0
32 camurati-engelmann disease 11.0
33 prolidase deficiency 11.0
34 frias syndrome 11.0
35 juvenile ossifying fibroma 11.0
36 petit-fryns syndrome 11.0
37 rozin hertz goodman syndrome 11.0
38 membranous cranial ossification, delayed 11.0
39 thanatophoric dysplasia, type ii 11.0
40 van buchem disease 11.0
41 acrofrontofacionasal dysostosis 2 11.0
42 hypomandibular faciocranial dysostosis 11.0
43 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.0
44 nestor-guillermo progeria syndrome 11.0
45 short stature with microcephaly and distinctive facies 11.0
46 cole-carpenter syndrome 2 11.0
47 kosaki overgrowth syndrome 11.0
48 marfanoid-progeroid-lipodystrophy syndrome 11.0
49 orbital cancer 11.0
50 kaplan plauchu fitch syndrome 11.0

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

MGI Mouse Phenotypes related to Exophthalmos:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ASXL1 DMD FGFR2 FLNA NF1 PRL
2 growth/size/body region MP:0005378 10.21 ASXL1 DMD FGFR2 FLNA KIDINS220 NF1
3 immune system MP:0005387 10.16 ASXL1 DMD FGFR2 FLNA NF1 PRL
4 cellular MP:0005384 10.15 ASXL1 DMD FGFR2 FLNA KIDINS220 NF1
5 hematopoietic system MP:0005397 10.15 ASXL1 DMD FGFR2 FLNA NF1 SCYL1
6 endocrine/exocrine gland MP:0005379 10.13 ASXL1 DMD FGFR2 NF1 PRL TG
7 homeostasis/metabolism MP:0005376 10.13 ASXL1 DMD FGFR2 FLNA NF1 PRL
8 cardiovascular system MP:0005385 10.1 DMD FGFR2 FLNA KIDINS220 NF1 SCYL1
9 digestive/alimentary MP:0005381 10.08 ASXL1 DMD FGFR2 FLNA NF1 TG
10 mortality/aging MP:0010768 10.02 ASXL1 DMD FGFR2 FLNA KIDINS220 NF1
11 nervous system MP:0003631 9.96 DMD FGFR2 FLNA KIDINS220 NF1 PRL
12 liver/biliary system MP:0005370 9.95 ASXL1 DMD FGFR2 FLNA NF1 PRL
13 limbs/digits/tail MP:0005371 9.83 DMD FGFR2 NF1 TG TSHR
14 neoplasm MP:0002006 9.8 ASXL1 FGFR2 NF1 PRL TGFB1 TSHR
15 reproductive system MP:0005389 9.7 DMD FGFR2 FLNA PRL SCYL1 TGFB1
16 skeleton MP:0005390 9.61 ASXL1 DMD FGFR2 FLNA NF1 SCYL1
17 vision/eye MP:0005391 9.28 ASXL1 DMD FGFR2 FLNA KIDINS220 NF1

Drugs & Therapeutics for Exophthalmos

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

(show top 50) (show all 193)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4,Phase 3,Phase 2 51-52-5 657298
2
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
3
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 302-25-0
4
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable 2921-57-5
6
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
7
Triamcinolone Approved, Vet_approved Phase 4,Not Applicable 124-94-7 31307
8
Iodine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 7553-56-2 807
9
Acetylcholine Approved, Investigational Phase 4,Phase 2,Phase 3 51-84-3 187
10
Methimazole Approved Phase 4,Phase 1,Phase 2,Not Applicable 60-56-0 1349907
11
Propranolol Approved, Investigational Phase 4,Phase 3,Not Applicable 525-66-6 4946
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
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
15
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
16
Bimatoprost Approved, Investigational Phase 4,Phase 3,Early Phase 1 155206-00-1 5311027
17
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1 50-02-2 5743
18
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 1 1177-87-3
19
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
20
leucovorin Approved Phase 4,Not Applicable 58-05-9 143 6006
21
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
22
Methotrexate Approved Phase 4,Not Applicable 1959-05-2, 59-05-2 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 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
28 Antithyroid Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Protective Agents Phase 4,Phase 2,Phase 3,Not Applicable
31 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Methylprednisolone Acetate Phase 4,Phase 2,Phase 3,Not Applicable
34 Antiemetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
39 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
42 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Anti-Infective Agents, Local Phase 4,Phase 3,Phase 2,Not Applicable
44 Triamcinolone hexacetonide Phase 4,Not Applicable
45 triamcinolone acetonide Phase 4,Not Applicable
46 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Immunosuppressive Agents Phase 4,Not Applicable
48 Triamcinolone diacetate Phase 4,Not Applicable
49 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
50 Nutrients Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 125)
# 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 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
3 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
4 99Tc-MDP for Thyroid-Associated Ophthalmopathy Completed NCT03948191 Phase 4 Methylprednisolone;99Tc-MDP(99Technetium-Methylenediphosphonate Injection)
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 Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
14 Using A Novel Classification System in Intravenous GCs Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
15 Rituximab (RTX) Therapy in Patients With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
16 A Trial to Evaluate the Efficacy of Orbital Radiotherapy in Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4 Methylprednisolone
17 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
18 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
19 Use of Botox in the Management of Thyroid Related Upper Eyelid Retraction Withdrawn NCT01272414 Phase 4 Botulinum Toxin Type A;Saline injection
20 The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions Unknown status NCT01204359 Phase 3
21 Prednisone Versus Doxycycline in the Treatment of Graves' Orbitopathy Unknown status NCT01809444 Phase 2, Phase 3 Prednisone+placebo of Doxycycline;Doxycycline+placebo of Prednisone
22 Early Levothyroxine Post Radioactive Iodine Unknown status NCT01950260 Phase 2, Phase 3 Levothyroxine
23 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
24 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Completed NCT02155049 Phase 3 bimatoprost 0.03%
25 Trial of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
26 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.
27 Comparison of Different Doses of 131I in Severe Graves' Hyperthyroidism Completed NCT01039818 Phase 3
28 Tocilizumab Treatment in Graves´ Ophthalmopathy (Graves´ Orbitopathy or Thyroid Eye Disease) Completed NCT01297699 Phase 3 Tocilizumab (RoActemra®);Sterile 0.9% Sodium Chloride
29 The Effect of Intravenous Glucocorticoids on the Tearfilm in Eyes With Thyroid-associated Ophthalmopathy Recruiting NCT01579539 Phase 3 Methylprednisolone;Esomeprazole
30 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
31 Total Thyroidectomy Versus Thionamides in Patients With Moderate-to-Severe Graves' Ophthalmopathy Recruiting NCT03066076 Phase 3 Antithyroid Drug
32 Treatment of Graves´Ophthalmopathy With Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg
33 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
34 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
35 Treatment of Graves' Orbitopathy to Reduce Proptosis With Teprotumumab Infusions in an Open-Label Clinical Extension Study Enrolling by invitation NCT03461211 Phase 3
36 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
37 The Effect of a New Antioxidant Combination (ASTED) on Mild Thyroid Eye Disease (TED) Not yet recruiting NCT02393183 Phase 2, Phase 3 ASTED
38 Doxycycline Treatment in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
39 Role of the Microbiome in Graves' Orbitopathy Unknown status NCT02373995 Phase 1, Phase 2
40 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
41 Teprotumumab (RV 001) Treatment in Patients With Active Thyroid Eye Disease Completed NCT01868997 Phase 2 teprotumumab;normal saline
42 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy Completed NCT01727973 Phase 1, Phase 2 Doxycycline
43 Rituximab Treatment of Graves' Dysthyroid Ophthalmopathy Completed NCT00424151 Phase 1, Phase 2 Rituximab
44 Effects Of Oral Alfacalcidol On Maturation Of Dendritic Cells In Graves' Disease Patients Completed NCT02993302 Phase 2 1α-D3;Placebos
45 A Study to Evaluate the Safety and Effect of CFZ533 on Patients With Graves' Disease Completed NCT02713256 Phase 2 CFZ533
46 Radioactive Iodide Therapy for Pediatric Graves' Disease Completed NCT01269749 Phase 2 ATD Group
47 Rituximab in the Treatment of Graves' Disease Completed NCT00150111 Phase 1, Phase 2 Methimazole;Rituximab
48 rhTSH, Thyroid Size, and Radioiodine Therapy in Benign Goiter Completed NCT00145366 Phase 2 Recombinant human thyrotropin (Thyrogen)
49 Celecoxib for Thyroid Eye Disease Recruiting NCT02845336 Phase 2 Celecoxib;artificial tears
50 Study of RVT-1401 for the Treatment of Patients With Moderate to Severe Active Graves' Ophthalmopathy ( GO ) Recruiting NCT03922321 Phase 2 RVT-1401 (Administered via subcutaneous injection)

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 30

Anatomical Context for Exophthalmos

MalaCards organs/tissues related to Exophthalmos:

42
Thyroid, Eye, Bone, Pituitary, Myeloid, Prostate, B Cells

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 1687)
# Title Authors Year
1
Recurrent unicystic maxillary ameloblastoma presenting as unilateral proptosis. ( 30930671 )
2019
2
Post-traumatic carotid-cavernous fistula with bilateral proptosis simulating cavernous sinus thrombosis. ( 30936337 )
2019
3
A 61 year old man with pancreatitis, pituitary dysfunction, and painful exophthalmos. ( 30792233 )
2019
4
Treating Pulsatile Exophthalmos in Child with Minimally Invasive Approach and Custom-made Titanium Mesh Plate. ( 30881828 )
2019
5
Exophthalmos and multinodular goitre, an unusual combination. ( 31051471 )
2019
6
Maxillary Pneumosinus Dilatans Presenting With Proptosis: A Case Report and Review of the Literature. ( 30774495 )
2019
7
Orbital reconstruction for tumor-associated proptosis: quantitative analysis of postoperative orbital volume and final eye position. ( 30849755 )
2019
8
Optic Nerve Tortuosity and Globe Proptosis in Normal and Glaucoma Subjects. ( 31045951 )
2019
9
Middle meningeal arteriovenous fistula causing unilateral proptosis. ( 29323004 )
2018
10
Cataract surgery in a case of Rosai-Dorfman disease with proptosis. ( 30274849 )
2018
11
Proptosis Correction in Pre-Adolescent Patients With Syndromic Craniosynostosis by Le Fort III Distraction Osteogenesis. ( 29771833 )
2018
12
Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease. ( 30337283 )
2018
13
Exophthalmos due to sterile neutrophilic dermatosis in a dog. ( 28294507 )
2018
14
Odontogenic parakeratinized cyst resulting in exophthalmos and palatine, maxillary, and zygomatic bone erosion in a dog. ( 29251408 )
2018
15
Unilateral Exophthalmos due to Lymphomatous Involvement. ( 29279476 )
2018
16
Exophthalmos in a young woman with no graves' disease - a case report of IgG4-related orbitopathy. ( 29329570 )
2018
17
Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report. ( 29343284 )
2018
18
Computed Tomography Measurements as a Standard of Exophthalmos? Two-Dimensional Versus Three-Dimensional Techniques. ( 29377729 )
2018
19
Utility of rituximab treatment for exophthalmos, myxedema, and osteoarthropathy syndrome resistant to corticosteroids due to Graves' disease: a case report. ( 29448964 )
2018
20
Comparison of exophthalmos measurements: Hertel exophthalmometer versus orbital parameters in 2-dimensional computed tomography. ( 30119794 )
2018
21
Exophthalmos or pseudo-exophthalmos in the Last Judgement (1535-1541) by Michelangelo Buonarroti (1475-1564). ( 30284219 )
2018
22
Treatment with bimatoprost for exophthalmos in patients with inactive thyroid-associated ophthalmopathy. ( 30568419 )
2018
23
Trigeminal hypertrophic interstitial neuropathy presenting as unilateral proptosis, ptosis, tearing, and facial neuralgia. ( 30302419 )
2018
24
Proptosis with hemiplegia: Unusual presentation of multiple myeloma. ( 30306967 )
2018
25
Proptosis and hemiplegia as an initial manifestation of multiple myeloma. ( 30117481 )
2018
26
Orbital and nasal meningoencephaloceles secondary to chronic hydrocephalus: A rare cause of bilateral proptosis. ( 29882488 )
2018
27
A rare case of hypereosinophilic syndrome presenting with unilateral proptosis and torticollis. ( 30249857 )
2018
28
Infantile cortical hyperostosis manifesting as congenital unilateral proptosis. ( 30503007 )
2018
29
Asymmetric proptosis as a presenting symptom of Hashimoto's thyroiditis with hypothyroidism. ( 29540353 )
2018
30
Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 29686128 )
2018
31
Editors' note: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397041 )
2018
32
Reader response: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397042 )
2018
33
Author response: Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397043 )
2018
34
Teaching Video NeuroImages: Pulsatile proptosis and wall-eyed bilateral internuclear ophthalmoplegia. ( 30397047 )
2018
35
Bilateral Proptosis in a Child: A Rare Presentation of Acute Lymphoblastic Leukemia. ( 30479725 )
2018
36
Chronic lymphocytic leukemia presenting as unilateral extraocular muscle enlargement and proptosis. ( 29563701 )
2018
37
A large primary orbital lymphoma with proptosis: A case report and review. ( 30603233 )
2018
38
Orbital Meningoencephalocele and Pulsatile Proptosis: A Rare Entity. ( 29552427 )
2018
39
Myeloid sarcoma involving the greater wing of the sphenoid bone and additional skeletal sites presenting with unilateral proptosis and fevers. ( 29557698 )
2018
40
Primary Neuroendocrine Tumor of the Orbit Presenting With Acute Proptosis. ( 28746252 )
2018
41
Olfactory Neuroblastoma: A Rare Cause of External Ophthalmoplegia, Proptosis and Compressive Optic Neuropathy. ( 29755824 )
2018
42
Greater Proptosis Is Not Associated With Improved Compressive Optic Neuropathy in Thyroid Eye Disease. ( 29851756 )
2018
43
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. ( 29389690 )
2018
44
A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report. ( 29283150 )
2018
45
Gorham-Stout Disease Presenting as Acute Unilateral Proptosis. ( 28837441 )
2018
46
Diplopia, Proptosis, and Joint Pain: Possibility of Osseous and Orbital Sarcoidosis. ( 29292316 )
2018
47
Sphenoid meningioma enplaque with proptosis: Surgical excision, reconstruction and outcome. ( 29501044 )
2018
48
Hydatidosis of infratemporal fossa with proptosis - an unusual presentation: a case report and review of the literature. ( 30326941 )
2018
49
Chronic Hematic Cyst of the Right Maxillary Sinus and Orbit Presenting as Proptosis. ( 29356716 )
2018
50
Unilateral proptosis as initial presenting sign of prostate cancer in a 45-year-old man. ( 29359113 )
2018

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 Pathogenic/Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
4 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
5 NFIX NM_002501.3(NFIX): c.440G> A (p.Gly147Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 13025433: 13025433
6 NFIX NM_002501.3(NFIX): c.440G> A (p.Gly147Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 13136247: 13136247

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 11.92 FGFR2 FLNA NF1 TGFB1
2 10.67 NF1 TGFB1
3 9.4 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 secretory granule GO:0030141 8.96 DMD TGFB1
2 cell surface GO:0009986 8.92 DMD FGFR2 TGFB1 TSHR

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.74 FGFR2 NF1 TGFB1
2 regulation of gene expression GO:0010468 9.73 DMD NF1 TGFB1
3 epithelial to mesenchymal transition GO:0001837 9.55 FGFR2 TGFB1
4 positive regulation of cell proliferation GO:0008284 9.55 DMD FGFR2 PRL TGFB1 TSHR
5 negative regulation of endothelial cell proliferation GO:0001937 9.54 NF1 PRL
6 wound healing GO:0042060 9.54 FGFR2 NF1 TGFB1
7 mammary gland development GO:0030879 9.52 PRL TGFB1
8 digestive tract development GO:0048565 9.51 FGFR2 TGFB1
9 cellular response to ionizing radiation GO:0071479 9.49 RHNO1 TGFB1
10 positive regulation of protein import into nucleus GO:0042307 9.48 FLNA TGFB1
11 regulation of multicellular organism growth GO:0040014 9.46 FGFR2 PRL
12 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.43 PRL TGFB1
13 cerebral cortex development GO:0021987 9.43 DMD FLNA NF1
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.4 FGFR2 TGFB1
15 positive regulation of adenylate cyclase activity GO:0045762 9.02 NF1
16 negative regulation of neuroblast proliferation GO:0007406 8.96 NF1 TGFB1
17 positive regulation of epithelial cell proliferation GO:0050679 8.62 FGFR2 TGFB1

Sources for Exophthalmos

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....