Aliases & Classifications for Exophthalmos

MalaCards integrated aliases for Exophthalmos:

Name: Exophthalmos 12 74 43 15 71
Proptosis 12 29 54 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:9370
ICD9CM 34 376.30
MeSH 43 D005094
NCIt 49 C118763
SNOMED-CT 67 18265008
ICD10 32 H05.20
UMLS 71 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 erdheim-chester disease and graves disease 1, and has symptoms including exophthalmos, unilateral An important gene associated with Exophthalmos is DMD (Dystrophin), and among its related pathways/superpathways are Innate Immune System and Allograft rejection. The drugs Propylthiouracil and Methimazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, eye and bone, and related phenotypes are behavior/neurological and hematopoietic system

Wikipedia : 74 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 689)
# Related Disease Score Top Affiliating Genes
1 erdheim-chester disease 32.1 CD68 CD1E CD1C CD1B CD1A
2 graves disease 1 31.3 TSHR TPO TG
3 myxedema 31.2 TSHR TPO TG
4 mechanical strabismus 31.2 TPO TG
5 goiter 30.9 TSHR TPO TG PRL
6 hyperthyroidism 30.8 TSHR TPO TG PRTN3 PRL
7 exposure keratitis 30.7 TSHR FGFR2
8 thyroiditis 30.5 TSHR TPO TG PRL
9 ethmoid sinusitis 30.4 RHNO1 PRTN3
10 paranasal sinus disease 30.4 TGFB1 RHNO1 PRTN3
11 multiple cranial nerve palsy 30.4 RHNO1 PRTN3
12 hashimoto encephalopathy 30.4 TSHR TPO
13 thyroid gland disease 30.3 TSHR TPO TG PRL
14 postsurgical hypothyroidism 30.3 TPO TG
15 orbital disease 30.3 TSHR TG RHNO1 PRTN3 NF1
16 pleomorphic lipoma 30.2 CD68 CD34
17 iodine hypothyroidism 30.2 TSHR TPO TG
18 thyroid carcinoma 30.2 TSHR TPO TG
19 endemic goiter 30.2 TSHR TPO TG
20 orbital plasma cell granuloma 30.2 RHNO1 PRTN3
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 TSHR TPO TG
22 langerhans cell histiocytosis 30.1 CD68 CD1C CD1A
23 thyroid gland follicular carcinoma 30.1 TSHR TPO TG
24 nodular goiter 30.1 TSHR TPO TG
25 cranial nerve palsy 30.0 RHNO1 PRTN3 PRL
26 fibroma 29.9 NF1 FLNA CD68 CD34
27 hydrocephalus 29.9 TGFB1 PRL FLNA FGFR2
28 neuroma 29.9 TGFB1 NF1 CD68 CD34
29 meningioma, familial 29.7 PRL NF1 CD68 CD34 CD1E CD1B
30 autoimmune disease 29.5 TSHR TPO TGFB1 TG PRTN3 CD1D
31 non-langerhans-cell histiocytosis 29.2 CD68 CD1E CD1D CD1C CD1B CD1A
32 orbital cancer 29.0 PRTN3 NF1 CD34 CD1E CD1C CD1B
33 rhinoscleroma 28.8 RHNO1 CD68 CD1E CD1D CD1C CD1B
34 endocrine exophthalmos 12.6
35 thyrotoxic exophthalmos 12.6
36 pulsating exophthalmos 12.4
37 constant exophthalmos 12.2
38 cole-carpenter syndrome 1 12.1
39 cole-carpenter syndrome 11.9
40 intermittent proptosis 11.7
41 crouzon syndrome 11.6
42 sanderson fraser syndrome 11.5
43 pfeiffer syndrome 11.5
44 raine syndrome 11.5
45 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
46 enophthalmos 11.5
47 camurati-engelmann disease 11.5
48 acrofrontofacionasal dysostosis 2 11.4
49 bohring-opitz syndrome 11.4
50 elsahy-waters syndrome 11.3

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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ASXL1 CD1D DMD FAM20C FGFR2 FLNA
2 hematopoietic system MP:0005397 10.3 ASXL1 CD1D CD34 CD68 DMD FAM20C
3 immune system MP:0005387 10.28 ASXL1 CD1D CD34 CD68 DMD FAM20C
4 homeostasis/metabolism MP:0005376 10.25 ASXL1 CD1D CD34 DMD FAM20C FGFR2
5 endocrine/exocrine gland MP:0005379 10.19 ASXL1 DMD FAM20C FGFR2 NF1 PRL
6 digestive/alimentary MP:0005381 10.11 ASXL1 DMD FAM20C FGFR2 FLNA NF1
7 craniofacial MP:0005382 10.07 ASXL1 FAM20C FGFR2 FLNA NF1 TGFB1
8 hearing/vestibular/ear MP:0005377 9.95 DMD FAM20C FGFR2 NF1 TPO TSHR
9 liver/biliary system MP:0005370 9.92 ASXL1 CD1D DMD FGFR2 FLNA NF1
10 limbs/digits/tail MP:0005371 9.91 DMD FAM20C FGFR2 NF1 TG TPO
11 reproductive system MP:0005389 9.81 DMD FAM20C FGFR2 FLNA NF1 PRL
12 neoplasm MP:0002006 9.8 ASXL1 CD34 FGFR2 NF1 PRL TGFB1
13 skeleton MP:0005390 9.73 ASXL1 CD1D CD68 DMD FAM20C FGFR2
14 vision/eye MP:0005391 9.28 ASXL1 DMD FAM20C FGFR2 FLNA NF1

Drugs & Therapeutics for Exophthalmos

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
2
Methimazole Approved Phase 4 60-56-0 1349907
3
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
4
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
7
Propranolol Approved, Investigational Phase 4 525-66-6 4946
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Nalbuphine Approved Phase 4 20594-83-6 5311304 5360630
10
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
11
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
13
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
15 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
16
rituximab Approved Phase 4 174722-31-7 10201696
17
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
18
leucovorin Approved Phase 4 58-05-9 6006 143
19
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
21
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
22 Antithyroid Agents Phase 4
23 Vasodilator Agents Phase 4
24 Anti-Infective Agents, Local Phase 4
25 Benzalkonium Compounds Phase 4
26 Anti-Infective Agents Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Cyclooxygenase Inhibitors Phase 4
29 Analgesics Phase 4
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4
31 Triamcinolone diacetate Phase 4
32 triamcinolone acetonide Phase 4
33 Triamcinolone hexacetonide Phase 4
34 Adrenergic beta-1 Receptor Antagonists Phase 4
35 Sympatholytics Phase 4
36 Narcotics Phase 4
37 Anesthetics, General Phase 4
38 Analgesics, Opioid Phase 4
39 Anesthetics Phase 4
40 Anesthetics, Local Phase 4
41 Anesthetics, Intravenous Phase 4
42 Hormone Antagonists Phase 4
43 Hormones Phase 4
44 Protective Agents Phase 4
45 Pharmaceutical Solutions Phase 4
46 Immunoglobulins Phase 4
47 Antibodies Phase 4
48 Gastrointestinal Agents Phase 4
49 Methylprednisolone Acetate Phase 4
50 glucocorticoids Phase 4

Interventional clinical trials:

(show all 36)
# 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 Prostaglandin F2-alpha Eye Drops (Bimatoprost) in Thyroid Eye Disease: a Randomised Controlled Double Blind Crossover Trial Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
3 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
4 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
5 Nalbuphine, Fentanyl and no Additive to Local Anaesthetic Mixture for Peribulbar Block During Posterior Segment Surgery in Adult Patients a Prospective Randomized Clinical Trial Completed NCT03824665 Phase 4 Nalbuphine Group;Fentanyl Group;Control Group
6 Phase IV Study of Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
7 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
8 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
9 "5010 Clinical Research Programme"of Sun Yat-sen University Unknown status NCT01204359 Phase 3
10 The Effect of Prednisone Versus Doxycycline in Active, Moderately Severe Graves' Orbitopathy: A Randomized, Multi-center, Double-blind, Parallel-controlled Trial Unknown status NCT01809444 Phase 2, Phase 3 Prednisone+placebo of Doxycycline;Doxycycline+placebo of Prednisone
11 Phase 3 Study of Treatment of Soft Tissue Expansion and Exophthalmos in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues. Completed NCT02155049 Phase 3 bimatoprost 0.03%
12 Clinical Trial Phase III, Parallel Group, Randomized, Placebo-controlled, Double-blind, Multicenter Study to Evaluate the Efficacy and Safety of Tocilizumab Administration in Patients With Moderate-to-severe or Sight-threatening Graves' Ophthalmopathy (GO), That Had Not Responded Adequately to Treatment With Intravenous Corticoid Pulses. Completed NCT01297699 Phase 3 Tocilizumab (RoActemra®);Sterile 0.9% Sodium Chloride
13 The Effect of Intravenous Glucocorticoids on the Tearfilm in Eyes With Thyroid-associated Ophthalmopathy Completed NCT01579539 Phase 3 Methylprednisolone;Esomeprazole
14 Phase 2/3 Study of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
15 Treatment of Graves´Ophthalmopathy With Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg
16 Multicenter, Safety and Efficacy, Open-Label Extension Study Evaluating Teprotumumab (HZN-001) Treatment in Subjects With Thyroid Eye Disease Active, not recruiting NCT03461211 Phase 3
17 A Phase 3, Randomized, Double-Masked, Placebo-Controlled, Parallel-Group, Multicenter Study Evaluating Teprotumumab (HZN-001) Treatment in Subjects With Active Thyroid Eye Disease Active, not recruiting NCT03298867 Phase 3
18 The Effect of a New Antioxidant Combination (ASTED) on Moderate to Severe Thyroid Eye Disease, a Double Blind Placebo Controlled Randomized Clinical Trial Not yet recruiting NCT02422368 Phase 2, Phase 3 Methylprednisolone + ASTED;Methylprednisolone +Placebo
19 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
20 A Single-masked, Placebo Controlled, Multi-center Pilot Study to Determine the Safety and Efficacy of Orbital Injections of a Fixed Dose of LIPO-102 in Patients With Symptomatic Exophthalmos Associated With Thyroid-related Eye Disease Completed NCT00954057 Phase 2 LIPO-102;Placebo
21 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy: a Prospective, Uncontrolled Pilot Study Completed NCT01727973 Phase 1, Phase 2 Doxycycline
22 An Open Label Trial of Celecoxib in the Treatment of Mild Thyroid Eye Disease Recruiting NCT02845336 Phase 2 Celecoxib;artificial tears
23 Comparison Study Between Two Techniques for Correction of Upper Lid Retraction in Patients With Grave's Orbitopathy Unknown status NCT01999790
24 The Role of TSH Receptor, PPAR-r, IGF-1R, IGF and Cytokines in Different Stages of Graves’Ophthalmopathy Unknown status NCT00174057
25 Phase 3b, Multicenter, Open-label, Single-Arm Expanded Access Protocol of TEPROTUMUMAB (HZN-001) Approved for marketing NCT04040894
26 Comparative Morphometric, Functional and Psychosocial Analysis Between the Results of Two Surgical Techniques of Orbital Decompression in Patients With Graves Orbitopathy Completed NCT03278964
27 Deep Lateral Wall Partial Rim-Sparing Orbital Decompression With Ultrasonic Bone Removal for Treatment of Thyroid-Related Orbitopathy Completed NCT04025034
28 Reliability of Hertel Exophthalmometer Measurements Completed NCT01691183
29 Optic Disc, Macula, and Retinal Nerve Fiber Layer Measurements Obtained by OCT in Thyroid Associated Ophthalmopathy Completed NCT02766660
30 A Pilot Study to Determine the Effect on Intraocular Pressure, Optic Nerve Imaging and Other Markers of Venous Congestion of Volunteer Subjects in the Prone Position for a Period of Five Hours Completed NCT00875043
31 Comparison of Efficacy and Safety of Intravenous Pulsed Methylprednisolone and Oral Methotrexate Versus Intravenous Pulsed Methylprednisolone and Oral Placebo in the Treatment of Active Moderate and Severe Thyroid Eye Disease - a Prospective, Randomized, Double-blind, Parallel, Controlled Multidisciplinary Clinical Trial and Imaging Study. Completed NCT00348413 Intravenous Methylprednisolone + Oral Methotrexate vs Intravenous Methylprednisolone + Placebo
32 Characterizing IgG4-related Disease With 68Ga-FAPI PET/CT Recruiting NCT04125511 Early Phase 1 68Ga-FAPI
33 A Comparative Study Between Dissociative Treatment and Binocular Interactive Treatment in Amblyopia Recruiting NCT03255707
34 Observational Study on Multisession Radiosurgery for Optic Nerve Sheath Meningiomas Recruiting NCT02594709
35 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02603042
36 Comparison of the Effect of Bromocriptine and Pentoxifylline in Mild to Moderate Autoimmune Ophthalmopathy. A Randomized, Controlled, Single Blind, Clinical Trial. Terminated NCT01893450 Methimazole;Bromocriptine;Pentoxifylline

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:

40
Thyroid, Eye, Bone, Pituitary, Myeloid, Prostate, B Cells

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 8162)
# Title Authors PMID Year
1
Papillary thyroid carcinoma with thyroid-associated orbitopathy in a euthyroid state. 54 61
17519654 2007
2
Magnetic resonance imaging determination of extraocular eye muscle volume in patients with thyroid-associated ophthalmopathy and proptosis. 54 61
16704711 2006
3
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 54 61
10406670 1999
4
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 54 61
7493034 1995
5
Early experience with teprotumumab for chronic thyroid eye disease. 61
32462101 2020
6
Rhino-orbital-cerebral mucormycosis (ROCM) and associated cerebritis treated with adjuvant retrobulbar amphotericin B. 61
32551404 2020
7
Postural changes revealing orbital venous malformation using ultrasound in blue rubber bleb nevus syndrome. 61
31691617 2020
8
Combined neurosurgical and orbital intervention for spheno-orbital meningiomas - the Manchester experience. 61
31658848 2020
9
Management of fetal goiters: 6-year retrospective observational study in three prenatal diagnosis and treatment centers of the Pays De Loire Perinatal Network. 61
30513035 2020
10
Effect of Different 131I Dose Strategies for Treatment of Hyperthyroidism on Graves' Ophthalmopathy. 61
32433165 2020
11
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age. 61
32337609 2020
12
Enucleated globes with advanced retinoblastoma: correlation of histopathological features and reclassification of tumors according to the 8th edition of the American Joint Committee on Cancer (AJCC). 61
32193778 2020
13
Three-dimensional characterisation of the globe position in the orbit. 61
32140924 2020
14
Orbital compartment syndrome as the first manifestation of SLE. 61
32152917 2020
15
Breast Cancer Metastases to the Paranasal Sinuses Mimicking Inflammatory Sinus Disease. 61
32569060 2020
16
Partial empty sella syndrome, GH deficiency and transient central adrenal insufficiency in a patient with NF1. 61
32519328 2020
17
Orbital Decompression for Exorbitism and Exophthalmos in a Patient With Thyroid Eye Disease. 61
32516216 2020
18
Multifocal extraocular muscle pyomyositis: A case report and review of literature. 61
32515624 2020
19
Evidence-based algorithm for the management of acute traumatic retrobulbar haemorrhage. 61
32546417 2020
20
A case report of neonatal orbital peripheral primitive neuroectodermal tumor and literature review. 61
32493126 2020
21
Transvenous embolization of bilateral indirect carotid-cavernous fistulas via aunilateral transorbital approach. 61
32552143 2020
22
Vertical enlargement of the palpebral aperture by surgical modification of the lower eyelid: A new cosmetic option for Chinese patients. 61
32122765 2020
23
Surgical management of isolated orbital floor and zygomaticomaxillary complex fractures with focus on surgical approaches and complications. 61
32493085 2020
24
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
25
Alveolar soft part sarcoma of the lateral rectus muscle: Suture technique to prevent postoperative strabismus. 61
32322745 2020
26
Clinical Management and Therapeutic Strategies for the Thyroid-Associated Ophthalmopathy: Current and Future Perspectives. 61
32567373 2020
27
Cause and Treatment of Exophthalmos in Aged Cotton Rats (Sigmodon hispidus). 61
32404235 2020
28
Novel Roles of Chloroquine and Hydroxychloroquine in Graves' Orbitopathy Therapy by Targeting Orbital Fibroblasts. 61
32249902 2020
29
Changes in ocular biomechanics after treatment for active Graves' orbitopathy. 61
32507991 2020
30
Intravenous Glucocorticoid Treatment for Korean Graves' Ophthalmopathy Patients. 61
32537950 2020
31
Effects of continuous acute and intermittent exposure on the tolerance of juvenile yellow catfish (Pelteobagrus fulvidraco) in total dissolved gas supersaturated water. 61
32540620 2020
32
Orbital plasmacytoma as the presenting feature in multiple myeloma. 61
32493136 2020
33
Transvenous embolization through the ipsilateral deep facial vein: A novel approach route for treatment of a cavernous sinus dural arteriovenous fistula. 61
32382360 2020
34
Orbit Solitary Fibrous Tumor: A Proposed Risk Prediction Model Based on a Case Series and Comprehensive Literature Review. 61
32529350 2020
35
Fibrous dysplasia of the orbital region: Series of 12 cases and review of the literature. 61
32376037 2020
36
An Assessment of Globe Position Dynamics following Transcranial Lateral and Superior Orbital Wall Resections without Rigid Reconstruction: A Case Series of 55 Patients. 61
32499998 2020
37
Extraocular muscle enlargement in retinoencephalofacial angiomatosis. 61
31658870 2020
38
Unilateral proptosis in Lemierre's syndrome variant. 61
32546572 2020
39
Myelin oligodendrocyte glycoprotein antibody-associated diffuse orbital inflammation. 61
32539531 2020
40
Normative Exophthalmometry Measurements Vary Among Ethiopian Adults and the Major Ethiopian Ethnic Groups. 61
32467519 2020
41
Proptosis in a child with chronic kidney disease: Answers. 61
31823042 2020
42
Proptosis in a child with chronic kidney disease: Questions. 61
31828467 2020
43
Teprotumumab: a novel therapeutic monoclonal antibody for thyroid-associated ophthalmopathy. 61
32429706 2020
44
Primary ductal adenocarcinoma of the lacrimal gland: A review and report of five cases. 61
31837385 2020
45
Reduced Retinal Microvascular Density Related to Activity Status and Serum Antibodies in Patients with Graves' Ophthalmopathy. 61
31595798 2020
46
Tension pneumo-orbit secondary to minor blunt force trauma. 61
31235399 2020
47
Endoscopic Treatment of Huge Sinus Mucoceles Causing Orbital Symptoms. 61
32433132 2020
48
A Simple Bone Cyst Requiring Exenteration: A Case Report With Literature Review. 61
32427737 2020
49
Retinal, choroidal and optic disc analysis in patients with Graves' disease with or without orbitopathy. 61
32358735 2020
50
Graded transantral orbital decompression outcomes in stable thyroid eye disease: a series of 47 orbits. 61
32363975 2020

Variations for Exophthalmos

ClinVar genetic disease variations for Exophthalmos:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter)SNV Pathogenic/Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
2 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu)SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
3 LEMD2 NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)SNV Likely pathogenic 917488 6:33740481-33740481 6:33772704-33772704
4 MATN4 NM_003833.4(MATN4):c.515G>C (p.Gly172Ala)SNV Likely pathogenic 183295 rs730882210 20:43932996-43932996 20:45304356-45304356

Expression for Exophthalmos

Search GEO for disease gene expression data for Exophthalmos.

Pathways for Exophthalmos

GO Terms for Exophthalmos

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.21 TSHR TPO TGFB1 PRTN3 FLNA FGFR2
2 integral component of plasma membrane GO:0005887 10.01 TSHR TPO FGFR2 CD34 CD1E CD1D
3 endosome GO:0005768 9.91 CD68 CD1E CD1D CD1C CD1B CD1A
4 lysosome GO:0005764 9.73 CD68 CD34 CD1E CD1D CD1C CD1B
5 endosome membrane GO:0010008 9.72 CD68 CD1D CD1C CD1B CD1A
6 extracellular space GO:0005615 9.7 TPO TGFB1 TG PRTN3 PRL FAM20C
7 external side of plasma membrane GO:0009897 9.63 CD34 CD1E CD1D CD1C CD1B CD1A
8 cell surface GO:0009986 9.23 TSHR TPO TGFB1 FGFR2 DMD CD34

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 CD1E CD1D CD1C CD1B CD1A
2 positive regulation of cell proliferation GO:0008284 9.8 TSHR TGFB1 PRTN3 PRL FGFR2 DMD
3 wound healing GO:0042060 9.67 TGFB1 NF1 FGFR2
4 regulation of immune response GO:0050776 9.65 CD34 CD1D CD1C CD1B CD1A
5 cerebral cortex development GO:0021987 9.61 NF1 FLNA DMD
6 positive regulation of T cell mediated cytotoxicity GO:0001916 9.55 CD1E CD1D CD1C CD1B CD1A
7 thyroid hormone generation GO:0006590 9.51 TPO TG
8 hormone biosynthetic process GO:0042446 9.48 TPO TG
9 negative regulation of neuroblast proliferation GO:0007406 9.4 TGFB1 NF1
10 positive regulation of odontogenesis GO:0042482 9.37 TGFB1 CD34
11 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.35 CD1E CD1D CD1C CD1B CD1A
12 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.02 CD1E CD1D CD1C CD1B CD1A

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

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.55 CD1E CD1D CD1C CD1B CD1A
2 exogenous lipid antigen binding GO:0030884 9.35 CD1E CD1D CD1C CD1B CD1A
3 endogenous lipid antigen binding GO:0030883 9.02 CD1E CD1D CD1C CD1B CD1A

Sources for Exophthalmos

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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