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
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 pulsating exophthalmos and erdheim-chester disease, 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 hematopoietic system and behavior/neurological

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 701)
# Related Disease Score Top Affiliating Genes
1 pulsating exophthalmos 33.8 RHNO1 NF1
2 erdheim-chester disease 32.5 CD1E CD1C CD1B CD1A
3 graves disease 1 31.3 TSHR TPO TG
4 mechanical strabismus 31.2 TPO TG
5 myxedema 31.2 TSHR TPO TG
6 goiter 30.8 TSHR TPO TG PRL
7 exposure keratitis 30.8 TSHR FGFR2
8 hyperthyroidism 30.7 TSHR TPO TG PRTN3 PRL
9 thyroiditis 30.5 TSHR TPO TG PRL
10 postsurgical hypothyroidism 30.4 TSHR TG
11 hashimoto encephalopathy 30.4 TSHR TPO
12 ethmoid sinusitis 30.3 RHNO1 PRTN3
13 multiple cranial nerve palsy 30.3 RHNO1 PRTN3
14 paranasal sinus disease 30.3 TGFB1 RHNO1 PRTN3
15 thyroid gland disease 30.3 TSHR TPO TG PRL
16 iodine hypothyroidism 30.2 TSHR TPO TG
17 thyroid carcinoma 30.2 TSHR TPO TG
18 orbital disease 30.2 TSHR TG RHNO1 PRTN3 NF1
19 endemic goiter 30.2 TSHR TPO TG
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 TSHR TPO TG
21 langerhans cell histiocytosis 30.1 CD68 CD1C CD1A
22 fibroma 30.1 FLNA CD68 CD34
23 nodular goiter 30.1 TSHR TPO TG
24 hydrocephalus 30.0 TGFB1 PRL FLNA FGFR2
25 cranial nerve palsy 30.0 RHNO1 PRTN3 PRL
26 neuroma 29.8 TGFB1 NF1 CD68 CD34
27 histiocytoma 29.8 CD68 CD34 CD1A
28 autoimmune disease 29.4 TSHR TPO TGFB1 TG PRTN3 CD1D
29 orbital cancer 29.3 NF1 CD34 CD1E CD1C CD1B CD1A
30 meningioma, familial 29.3 PRL NF1 CD68 CD34 CD1E CD1C
31 non-langerhans-cell histiocytosis 29.2 CD68 CD1E CD1D CD1C CD1B CD1A
32 rhinoscleroma 28.7 RHNO1 CD68 CD1E CD1D CD1C CD1B
33 endocrine exophthalmos 12.6
34 thyrotoxic exophthalmos 12.6
35 constant exophthalmos 12.2
36 obsolete: benign exophthalmos syndrome 12.2
37 cole-carpenter syndrome 1 12.1
38 cole-carpenter syndrome 11.9
39 intermittent proptosis 11.7
40 crouzon syndrome 11.6
41 sanderson fraser syndrome 11.5
42 pfeiffer syndrome 11.5
43 raine syndrome 11.5
44 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
45 enophthalmos 11.5
46 camurati-engelmann disease 11.5
47 acrofrontofacionasal dysostosis 2 11.4
48 bohring-opitz syndrome 11.4
49 neu-laxova syndrome 1 11.3
50 melnick-needles 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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 ASXL1 CD1D CD34 CD68 DMD FAM20C
2 behavior/neurological MP:0005386 10.26 ASXL1 CD1D DMD FAM20C FGFR2 FLNA
3 immune system MP:0005387 10.24 ASXL1 CD1D CD34 CD68 DMD FAM20C
4 homeostasis/metabolism MP:0005376 10.22 ASXL1 CD1D CD34 DMD FAM20C FGFR2
5 endocrine/exocrine gland MP:0005379 10.18 ASXL1 DMD FAM20C FGFR2 NF1 PRL
6 digestive/alimentary MP:0005381 10.1 ASXL1 DMD FAM20C FGFR2 FLNA NF1
7 craniofacial MP:0005382 10.05 ASXL1 FAM20C FGFR2 FLNA NF1 TGFB1
8 hearing/vestibular/ear MP:0005377 9.93 DMD FAM20C FGFR2 NF1 TPO TSHR
9 limbs/digits/tail MP:0005371 9.87 DMD FAM20C FGFR2 NF1 TG TPO
10 liver/biliary system MP:0005370 9.86 ASXL1 CD1D DMD FGFR2 FLNA NF1
11 skeleton MP:0005390 9.73 ASXL1 CD1D CD68 DMD FAM20C FGFR2
12 neoplasm MP:0002006 9.7 ASXL1 CD34 FGFR2 NF1 PRL TGFB1
13 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 125)
# 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
Propranolol Approved, Investigational Phase 4 525-66-6 4946
7
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Nalbuphine Approved Phase 4 20594-83-6 5360630 5311304
10
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
11
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
14 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
15
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
16
rituximab Approved Phase 4 174722-31-7 10201696
17
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
18
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
19
leucovorin Approved Phase 4 58-05-9 6006 143
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 Oxytocics Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Analgesics Phase 4
29 Triamcinolone hexacetonide Phase 4
30 Triamcinolone diacetate Phase 4
31 triamcinolone acetonide Phase 4
32 Adrenergic beta-1 Receptor Antagonists Phase 4
33 Sympatholytics Phase 4
34 Anesthetics, Local Phase 4
35 Anesthetics Phase 4
36 Narcotics Phase 4
37 Adjuvants, Anesthesia Phase 4
38 Anesthetics, General Phase 4
39 Analgesics, Opioid Phase 4
40 Central Nervous System Depressants Phase 4
41 Anesthetics, Intravenous Phase 4
42 Hormone Antagonists Phase 4
43 Protective Agents Phase 4
44 Hormones Phase 4
45 Pharmaceutical Solutions Phase 4
46 Immunologic Factors Phase 4
47 Antibodies Phase 4
48 Immunoglobulins Phase 4
49 Antiemetics Phase 4
50 Methylprednisolone Acetate 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 Phase 2/3 Study of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3 Rituximab;Saline;Methylprednisolone
14 The Effect of Intravenous Glucocorticoids on the Tearfilm in Eyes With Thyroid-associated Ophthalmopathy Recruiting NCT01579539 Phase 3 Methylprednisolone;Esomeprazole
15 Treatment of Graves´Ophthalmopathy With Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg
16 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
17 Multicenter, Safety and Efficacy, Open-Label Extension Study Evaluating Teprotumumab (HZN-001) Treatment in Subjects With Thyroid Eye Disease Enrolling by invitation NCT03461211 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 Comparative Morphometric, Functional and Psychosocial Analysis Between the Results of Two Surgical Techniques of Orbital Decompression in Patients With Graves Orbitopathy Completed NCT03278964
26 Deep Lateral Wall Partial Rim-Sparing Orbital Decompression With Ultrasonic Bone Removal for Treatment of Thyroid-Related Orbitopathy Completed NCT04025034
27 Reliability of Hertel Exophthalmometer Measurements Completed NCT01691183
28 Optic Disc, Macula, and Retinal Nerve Fiber Layer Measurements Obtained by OCT in Thyroid Associated Ophthalmopathy Completed NCT02766660
29 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
30 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
31 A Comparative Study Between Dissociative Treatment and Binocular Interactive Treatment in Amblyopia Recruiting NCT03255707
32 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02603042
33 Observational Study on Multisession Radiosurgery for Optic Nerve Sheath Meningiomas Recruiting NCT02594709
34 Phase 3b, Multicenter, Open-label, Single-Arm Expanded Access Protocol of TEPROTUMUMAB (HZN-001) Available NCT04040894
35 Characterizing IgG4-related Disease With 68Ga-FAPI PET/CT Not yet recruiting NCT04125511 Early Phase 1 68Ga-FAPI
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, B Cells, Prostate

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 8036)
# 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
Delayed implant infection with Cutibacterium acnes (Propionibacterium acnes) 30 years after silicone sheet orbital floor implant. 61
31021283 2020
6
Influence of surgical approach for decompression on lower eyelid position in thyroid eye disease. 61
31021263 2020
7
Ophthalmic adverse effects of lithium. 61
31743232 2020
8
Exophthalmos and coated aorta in Erdheim-Chester disease. 61
32025736 2020
9
New insights into the pathogenesis and nonsurgical management of Graves orbitopathy. 61
31889140 2020
10
Dural sinus malformation with giant pouch (DSMGP): symptoms and treatment. 61
31396697 2020
11
Cavernous-Carotid Fistula Presenting with Intracerebral Hemorrhage in the Absence of Ocular Symptoms: a case report. 61
32035205 2020
12
A case of pulsatile proptosis. 61
31336211 2020
13
Thyroid eye disease presenting with superior rectus/levator complex enlargement. 61
31056988 2020
14
Bony orbital changes in allergic fungal sinusitis are reversible after treatment. 61
31169421 2020
15
Outcomes of endoscopic orbital decompression for graves' ophthalmopathy. 61
31203506 2020
16
Orbital Compartment Syndrome Secondary to Direct Carotid Cavernous Fistula After Carotid Cavernous Aneurysm Rupture: Case Report and Review of Literature. 61
31421298 2020
17
Orbital Bone Decompression for Non-Thyroid Eye Disease Proptosis. 61
31373985 2020
18
Perineurioma -a rare cause of proptosis. 61
31910678 2020
19
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
20
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant. 61
31764549 2020
21
Treatment of the Patient With Crouzon Syndrome With Orthognathic Surgery. 61
31934979 2020
22
Zygomatic Rotation-Advancement: A New Concept for the Correction of Exorbitism in Patients With Syndromic Craniosynostosis. 61
31246629 2020
23
En-Bloc Resection Versus Resection After Evacuation and Suction of the Content for Orbital Optic Nerve Glioma Causing Visual Loss and Disfiguring Proptosis. 61
31917767 2020
24
Concomitant Orbital Tumours: Small Lymphocytic Lymphoma Involving the Lacrimal Gland of a Patient with Clinical Diagnoses of Muir-Torre Syndrome and Extensive Sebaceous Gland Carcinoma of the Ipsilateral Eyelid. 61
32002399 2020
25
Retinoblastoma Presentation and Survival: A four-year analysis from a tertiary care hospital. 61
31933609 2020
26
Orbital Glial Heterotopia: A Report of 2 Cases and Review of the Literature. 61
31348112 2020
27
The feasibility analysis of calculating proptosis by simple Pythagorean theorem. 61
31986913 2020
28
Extramammary orbital myofibroblastoma: a rare orbital tumor. 61
31935148 2020
29
Maxillofacial Manifestation of a Giant Dimension Cranial Osteoma. 61
31977687 2020
30
A Rare Presentation of Orbital Castleman's Disease. 61
31984145 2020
31
A rare case of orbital angioleiomyoma. 61
31994422 2020
32
Surgical Outcomes of Endoscopic Medial Orbital Wall Decompression. 61
31369495 2020
33
A Case of Idiopathic Orbital Inflammation with Shallow Anterior Chamber and Choroidal Detachment. 61
32009933 2020
34
Management of Orbital Masses: Outcomes of Endoscopic and Combined Approaches With No Orbital Reconstruction. 61
31984165 2020
35
Nontraumatic Subperiosteal Orbital Hematoma in a Patient With Behcet Disease. 61
31609957 2020
36
Bilateral IgG4-related Ophthalmic Disease With Diffuse Large B-cell Lymphoma of the Right Eye: A Case Report. 61
31923092 2020
37
Orbital soft tissue composite lymphoma presenting as recurrence of a nodal lymphoma with mantle and follicular cell components: A case report, literature review and guideline for the treatment of patients. 61
31932010 2020
38
Intraoral Approach for Surgical Treatment of Psammomatoid Juvenile Ossifying Fibroma. 61
31934971 2020
39
[Temporary elevation deficit with exophthalmos in a 4-year-old child]. 61
30953126 2020
40
Periorbital Injection of Hyaluronic Acid Gel in Patients With Deep Superior Sulcus. 61
31794448 2020
41
High-throughput transcriptional profiling combined with angiogenesis antibody array analysis in an orbital venous malformation cohort. 61
31926133 2020
42
Endoscopic approaches to orbital lesions: case series and systematic literature review. 61
31899885 2020
43
[A Case of Familial Schwannomatosis Occurring as Intraorbital Schwannoma]. 61
31983691 2020
44
Maxillary Giant Cell Granuloma: A Long-Term Follow-Up. 61
31012347 2020
45
Invasive Crooke cell adenoma in a patient with diffuse large B-cell lymphoma. 61
31937501 2020
46
Teprotumumab for the Treatment of Active Thyroid Eye Disease. 61
31971679 2020
47
Orbital complication of acute ethmoiditis: A Tunisian paediatric cross sectional study. 61
31732307 2020
48
Orbital Reconstruction via Deformable Titanium Mesh Following Spheno-Orbital Meningioma Resection: Ophthalmic Presentation and Outcomes. 61
31373988 2020
49
Proptosis in a child with chronic kidney disease: Answers. 61
31823042 2019
50
Proptosis in a child with chronic kidney disease: Questions. 61
31828467 2019

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 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 extracellular space GO:0005615 9.96 TPO TGFB1 PRTN3 PRL FAM20C CD1E
4 endosome GO:0005768 9.91 CD68 CD1E CD1D CD1C CD1B CD1A
5 endosome membrane GO:0010008 9.72 CD68 CD1D CD1C CD1B CD1A
6 lysosome GO:0005764 9.63 CD68 CD34 CD1E CD1D CD1C CD1B
7 external side of plasma membrane GO:0009897 9.43 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 11)
# 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 hormone biosynthetic process GO:0042446 9.48 TPO TG
8 negative regulation of neuroblast proliferation GO:0007406 9.4 TGFB1 NF1
9 positive regulation of odontogenesis GO:0042482 9.37 TGFB1 CD34
10 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.35 CD1E CD1D CD1C CD1B CD1A
11 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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