Aliases & Classifications for Exophthalmos

MalaCards integrated aliases for Exophthalmos:

Name: Exophthalmos 12 73 44 15 70
Proptosis 12 29 54 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:9370
ICD9CM 34 376.30
MeSH 44 D005094
NCIt 50 C87114
SNOMED-CT 67 155200004
ICD10 32 H05.20
UMLS 70 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 FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Allograft rejection and Tight junction. The drugs Iodine and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and thyroid, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 645)
# Related Disease Score Top Affiliating Genes
1 erdheim-chester disease 31.0 CD1E CD1D CD1C CD1B CD1A
2 graves disease 1 30.9 TSHR TPO TG
3 myxedema 30.8 TSHR TPO TG
4 hyperthyroidism 30.8 TSHR TPO TG PRL
5 mechanical strabismus 30.8 TPO TG
6 strabismus 30.5 TSHR NFIX NF1 FGFR2
7 goiter 30.5 TSHR TPO TG PRL
8 orbital disease 30.5 TSHR TG NF1
9 hypothyroidism 30.4 TSHR TPO TG PRL
10 exposure keratitis 30.4 TSHR FGFR2
11 thyroiditis 30.3 TSHR TPO TG
12 diabetes insipidus 30.3 TG PRL MATN4
13 tolosa-hunt syndrome 30.1 CD1E CD1A
14 hashimoto thyroiditis 30.0 TSHR TPO TGFB1 TG
15 thyroid gland disease 30.0 TSHR TPO TG PRL
16 sphenoid sinusitis 29.9 CD1E CD1B CD1A
17 hypotropia 29.9 TSHR TPO
18 postsurgical hypothyroidism 29.9 TPO TG
19 iodine hypothyroidism 29.8 TSHR TPO TG
20 endemic goiter 29.8 TSHR TPO TG
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 TSHR TPO TG
22 nodular goiter 29.7 TSHR TPO TG
23 hydrocephalus 29.7 TGFB1 PRL FLNA FGFR2
24 thyroid carcinoma 29.7 TSHR TPO TG
25 fibroma 29.7 NF1 FLNA CD68
26 neuroma 29.7 TGFB1 NF1 CD68
27 langerhans cell histiocytosis 29.6 CD68 CD1C CD1A
28 autoimmune disease 29.6 TSHR TPO TGFB1 TG CD1D
29 orbital cancer 29.0 NF1 CD1E CD1D CD1C CD1B CD1A
30 connective tissue benign neoplasm 28.9 CD68 CD1E CD1C CD1B CD1A
31 non-langerhans-cell histiocytosis 28.8 CD68 CD1E CD1D CD1C CD1B CD1A
32 rhinoscleroma 28.6 CD68 CD1E CD1D CD1C CD1B CD1A
33 endocrine exophthalmos 11.4
34 cole-carpenter syndrome 11.4
35 thyrotoxic exophthalmos 11.4
36 cole-carpenter syndrome 1 11.3
37 pulsating exophthalmos 11.3
38 intermittent proptosis 11.2
39 bohring-opitz syndrome 11.1
40 constant exophthalmos 11.1
41 elsahy-waters syndrome 11.1
42 neu-laxova syndrome 1 11.1
43 crouzon syndrome 11.0
44 pfeiffer syndrome 11.0
45 melnick-needles syndrome 11.0
46 luxation of globe 11.0
47 premature aging syndrome, penttinen type 11.0
48 neu-laxova syndrome 2 11.0
49 cole-carpenter syndrome 2 11.0
50 sanderson fraser 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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 FLNA
2 Decreased viability GR00055-A-2 9.7 FLNA
3 Decreased viability GR00221-A-1 9.7 NF1
4 Decreased viability GR00221-A-2 9.7 NF1
5 Decreased viability GR00221-A-4 9.7 NF1
6 Decreased viability GR00240-S-1 9.7 TG
7 Decreased viability GR00249-S 9.7 FGFR2 FLNA MATN4 NF1 TGFB1
8 Decreased viability GR00301-A 9.7 FGFR2
9 Decreased viability GR00342-S-1 9.7 FGFR2
10 Decreased viability GR00342-S-2 9.7 FGFR2
11 Decreased viability GR00342-S-3 9.7 FGFR2
12 Decreased viability GR00381-A-1 9.7 FAM20C
13 Decreased viability GR00386-A-1 9.7 CD1D FAM20C FLNA NF1
14 Decreased viability GR00402-S-2 9.7 CD1B CD1C DMD MATN4

MGI Mouse Phenotypes related to Exophthalmos:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ASXL1 CD1D DMD FAM20C FGFR2 FLNA
2 hematopoietic system MP:0005397 10.3 ASXL1 CD1D CD68 DMD FAM20C FGFR2
3 homeostasis/metabolism MP:0005376 10.28 ASXL1 CD1D DMD FAM20C FGFR2 FLNA
4 immune system MP:0005387 10.28 ASXL1 CD1D CD68 DMD FAM20C FGFR2
5 endocrine/exocrine gland MP:0005379 10.19 ASXL1 DMD FAM20C FGFR2 NF1 PRL
6 craniofacial MP:0005382 10.18 ASXL1 FAM20C FGFR2 FLNA LEMD2 NF1
7 digestive/alimentary MP:0005381 10.16 ASXL1 DMD FAM20C FGFR2 FLNA NF1
8 nervous system MP:0003631 10.03 CD1D DMD FAM20C FGFR2 FLNA LEMD2
9 hearing/vestibular/ear MP:0005377 10.02 DMD FAM20C FGFR2 NF1 NFIX TPO
10 liver/biliary system MP:0005370 9.92 ASXL1 CD1D DMD FGFR2 FLNA NF1
11 limbs/digits/tail MP:0005371 9.91 DMD FAM20C FGFR2 NF1 TG TPO
12 reproductive system MP:0005389 9.81 DMD FAM20C FGFR2 FLNA NF1 PRL
13 skeleton MP:0005390 9.77 ASXL1 CD1D CD68 DMD FAM20C FGFR2
14 vision/eye MP:0005391 9.36 ASXL1 DMD FAM20C FGFR2 FLNA LEMD2

Drugs & Therapeutics for Exophthalmos

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 3 7553-56-2 807
2
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
3
Cadexomer iodine Experimental Phase 3 94820-09-4
4 Antihypertensive Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 "5010 Clinical Research Programme"of Sun Yat-sen University Unknown status NCT01204359 Phase 3
2 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%
3 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
4 Comparison Study Between Two Techniques for Correction of Upper Lid Retraction in Patients With Grave's Orbitopathy Unknown status NCT01999790
5 Reliability of Hertel Exophthalmometer Measurements Completed NCT01691183
6 Deep Lateral Wall Partial Rim-Sparing Orbital Decompression With Ultrasonic Bone Removal for Treatment of Thyroid-Related Orbitopathy Completed NCT04025034
7 Exophthalmometry With 3D Face Scanners Recruiting NCT04704414
8 Spheno_orbital Meningioma Enplaque With Proptosis; Surgical Techniques and Outcomes Not yet recruiting NCT04710485

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
Eye, Pituitary, Thyroid, Bone, Myeloid, Prostate, Lung

Publications for Exophthalmos

Articles related to Exophthalmos:

(show top 50) (show all 8505)
# Title Authors PMID Year
1
Papillary thyroid carcinoma with thyroid-associated orbitopathy in a euthyroid state. 61 54
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. 61 54
10406670 1999
4
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 54 61
7493034 1995
5
Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease. 61
33786404 2021
6
Orbital decompressive effect of endoscopic transorbital surgery for sphenoorbital meningioma. 61
33226438 2021
7
Cavernous Sinus Meningioma Resection Through Orbitozygomatic Craniotomy. 61
33515796 2021
8
Progressive proptosis secondary to pneumosinus dilatans of the ethmoidal sinus in a pediatric patient. 61
32316816 2021
9
Accelerated growth of orbital schwannomas during pregnancy does not correlate with sex hormone- or growth factor receptor status. 61
32264727 2021
10
Metastases of systemic malignancies to the orbit: a major review. 61
32340504 2021
11
Malignant behaviour of primary intracranial Rosai Dorfman disease: A rare presentation of a benign disease. 61
33276004 2021
12
Nasopharyngeal adenoid cystic carcinoma presenting with exophthalmos: A case report. 61
33664920 2021
13
Mucormycosis with orbital compartment syndrome in a patient with COVID-19. 61
32972795 2021
14
Growing skull fractures of the orbital roof: a multicentric experience with 28 patients. 61
33029727 2021
15
Treatment of post-traumatic direct carotid-cavernous fistulas using flow diverting stents: Is it alone satisfactory? 61
33775333 2021
16
Aneurysmal Bone Cysts of the Paranasal Sinuses: The Mayo Clinic Experience and Review of the Literature. 61
33646602 2021
17
Langerhans Cell Histiocytosis of the Orbit: Spectrum of Clinical and Imaging Findings. 61
33157073 2021
18
Orbital Compartment Syndrome and Irreversible Blindness Related to Orbital Varix Thrombosis: A Case Report. 61
33303275 2021
19
A randomized comparative study of inferomedial vs. balanced orbital decompression. Analysis of changes in orbital volume, eyelid parameters, and eyeball position. 61
33731890 2021
20
Bulbar Conjunctival Microvascular Alterations in Thyroid-Associated Ophthalmopathy Patients with Different Activities. 61
33719776 2021
21
Changes in ocular biomechanics after treatment for active Graves' orbitopathy. 61
32507991 2021
22
Multi-compartment skull base orbital cavernous venous malformation: A rare presentation of a common orbital mass. 61
33598587 2021
23
Nerve Sheath Myxoma Involving the Medial Rectus Muscle: A Case Report. 61
32618824 2021
24
Pharmacokinetics and Exposure-Response Relationship of Teprotumumab, an Insulin-Like Growth Factor-1 Receptor-Blocking Antibody, in Thyroid Eye Disease. 61
33768488 2021
25
Thyroid eye disease: Redefining its management-A review. 61
33484076 2021
26
Fungal abscess after intra-orbital steroid injection: a case report. 61
33771079 2021
27
Giant mucocele secondary to cocaine abuse. 61
33425080 2021
28
Sphenoid Wing Dysplasia in the Absence of Neurofibromatosis: Diagnosis and Management of a Novel Phenotype. 61
33758729 2021
29
Carcinoma Expleomorphic Adenoma of the Lacrimal Gland. 61
33710040 2021
30
A Case Series of Intramuscular Orbital Choristomatous Cysts. 61
32675726 2021
31
Is the retrograde access for endovascular treatment of a traumatic carotid cavernous fistula associated with dissection of the ipsilateral carotid possible? 61
33725761 2021
32
Orbit Solitary Fibrous Tumor: A Proposed Risk Prediction Model Based on a Case Series and Comprehensive Literature Review. 61
32529350 2021
33
Trametinib for orbital plexiform neurofibromas in young children with neurofibromatosis type 1. 61
33751171 2021
34
Ophthalmic Presentation and Outcomes for Malignant Sinonasal Tumors. 61
33782330 2021
35
Simultaneous presentation of orbital mantle cell lymphoma and endocrine mucin-producing sweat gland carcinoma. 61
33657963 2021
36
Entirely endoscopic resection of a complicated juvenile psammomatoid ossifying fibroma of the paranasal sinusitis: Case report and review of the literature. 61
33743250 2021
37
Silicone Scaffold Support Using a Bilayer Dermal Regeneration Matrix Template for Correction of Primary or Recurrent Eyelid Retraction. 61
32826828 2021
38
Thyroid-Associated Ophthalmopathy: Preliminary Study Using T2 Mapping to Characterize Intraorbital Optic Nerve Changes Before Dysthyroid Optic Neuropathy. 61
33630733 2021
39
Lower eyelid entropion in thyroid eye disease. 61
33775197 2021
40
Effects of glucocorticoid pulse therapy on thyroid function and thyroid antibodies in children with graves' disease. 61
33653401 2021
41
Treatment Of Moderate To Severe Orbitopathy: Current Modalities And Perspectives. 61
33676921 2021
42
The "Quiet TED"-A Special Subgroup of Thyroid Eye Disease. 61
33782324 2021
43
Traumatic chiasmopathy following mild trauma in a patient with thyroid orbitopathy. 61
33553807 2021
44
Sustained clinical remission under infliximab/rituximab combination therapy in a patient with granulomatosis with polyangiitis. 61
33676553 2021
45
Physician-Perceived Impact of Thyroid Eye Disease on Patient Quality of Life in the United States. 61
33196932 2021
46
[Three Cases of Orbital Metastasis from Breast Cancer Treated with Radiotherapy]. 61
33790160 2021
47
Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report. 61
33725872 2021
48
Ocular Adnexal MALT Lymphoma in Association With Rosai-Dorfman Disease in a Child. 61
33710034 2021
49
Case report of unilateral retrobulbar hematoma associated with von Willebrand disease in a Doberman Pinscher dog. 61
33768818 2021
50
[Secondary eyelid pockets: Pitfalls in blepharoplasty surgery]. 61
33516573 2021

Variations for Exophthalmos

ClinVar genetic disease variations for Exophthalmos:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MATN4 NM_030590.4(MATN4):c.515G>C (p.Gly172Ala) SNV Likely pathogenic 183295 rs730882210 GRCh37: 20:43932996-43932996
GRCh38: 20:45304356-45304356
2 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Likely pathogenic 374132 rs201217593 GRCh37: X:31196064-31196064
GRCh38: X:31177947-31177947
3 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu) SNV Likely pathogenic 627622 rs1568269273 GRCh37: 19:13136247-13136247
GRCh38: 19:13025433-13025433
4 LEMD2 NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe) SNV Likely pathogenic 917488 GRCh37: 6:33740481-33740481
GRCh38: 6:33772704-33772704

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 integral component of plasma membrane GO:0005887 9.95 TSHR TPO FGFR2 CD1E CD1D CD1C
2 endosome GO:0005768 9.8 CD68 CD1E CD1D CD1C CD1B CD1A
3 lysosome GO:0005764 9.77 CD68 CD1E CD1D CD1C CD1B
4 external side of plasma membrane GO:0009897 9.65 CD1E CD1D CD1C CD1B CD1A
5 extracellular space GO:0005615 9.65 TPO TGFB1 TG PRL FAM20C CD1E
6 endosome membrane GO:0010008 9.55 CD68 CD1D CD1C CD1B CD1A
7 cell surface GO:0009986 9.17 TSHR TPO TGFB1 FGFR2 DMD CD1D

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 TSHR TGFB1 PRL FGFR2 DMD
2 immune response GO:0006955 9.83 CD1E CD1D CD1C CD1B CD1A
3 wound healing GO:0042060 9.69 TGFB1 NF1 FGFR2
4 regulation of immune response GO:0050776 9.67 CD1D CD1C CD1B CD1A
5 cerebral cortex development GO:0021987 9.58 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 9.49 TPO TG
8 hormone biosynthetic process GO:0042446 9.46 TPO TG
9 epithelial to mesenchymal transition GO:0001837 9.43 TGFB1 FLNA FGFR2
10 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.35 CD1E CD1D CD1C CD1B CD1A
11 negative regulation of neuroblast proliferation GO:0007406 9.32 TGFB1 NF1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....