MCID: EXP004
MIFTS: 51

Exophthalmos malady

Summaries for Exophthalmos

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Exophthalmos, also called exophthalmia or proptosis, is a bulging of the eye anteriorly out of the... more...

MalaCards: Exophthalmos, also known as proptosis, is related to thyroiditis and graves' disease. An important gene associated with Exophthalmos is FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and MAPK signaling pathway. The compounds benazepril and ramipril have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and bone, and related mouse phenotypes are endocrine/exocrine gland and craniofacial.

Disease Ontology:8 An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.

Aliases & Classifications for Exophthalmos

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Aliases & Descriptions:

exophthalmos 8 10 60
proptosis 8 44


External Ids:

Disease Ontology8 DOID:9370
MeSH34 D005094
ICD9CM27 376.30

Related Diseases for Exophthalmos

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Exophthalmos:



Diseases related to exophthalmos

Clinical Features for Exophthalmos

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Drugs & Therapeutics for Exophthalmos

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Exophthalmos

Drug clinical trials:

Search ClinicalTrials for Exophthalmos

Search NIH Clinical Center for Exophthalmos

Search CenterWatch for Exophthalmos

Genetic Tests for Exophthalmos

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Anatomical Context for Exophthalmos

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32MalaCards
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MalaCards organs/tissues related to Exophthalmos:

32
Eye, Thyroid, Bone, Pituitary, Lung, Prostate, Brain, Heart, Salivary gland, Testes, B cells

Animal Models for Exophthalmos or affiliated genes

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36MGI
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Publications for Exophthalmos

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50PubMed
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Articles related to Exophthalmos:

(show top 50)    (show all 571)
idTitleAuthorsYear
1
Posttraumatic pulsating exophthalmos in a child. (24119872)
2014
2
Intradiploic hematoma of the frontal bone with secondary exophthalmos in a mare. (23953510)
2013
3
Fronto-orbital osteoma. Answer to the e-quid "Unilateral exophthalmos in a 30-year-old man". (23294927)
2013
4
A 42 year old man with bilateral exophthalmos and weight loss. (21436114)
2011
5
Significance of orbital fatty tissue for exophthalmos in thyroid-associated ophthalmopathy. (12136278)
2002
6
Extubation-induced unilateral exophthalmos. (11743424)
2001
7
Correlation between clubbing and exophthalmos and/or pretibial myxoedema in Graves disease. (10778547)
1999
8
New approach to the surgical treatment of severe exophthalmos in Graves disease. (9780936)
1998
9
Successful surgical repair of progressive exophthalmos caused by a meningocele in a patient with neurofibromatosis Type 1. Case report. (9833833)
1998
10
Exophthalmos in Cushing's syndrome. (8881448)
1996
11
Thymoma in a geriatric rabbit with hypercalcemia and periodic exophthalmos. (7759335)
1995
12
Malignant exophthalmos associated with multiple myeloma. (8012091)
1993
13
Graves exophthalmos without muscle involvement. (1594204)
1992
14
Surgical treatment of exophthalmos and exorbitism: a modified technique. (1401111)
1992
15
Graves exophthalmos unrelated to extraocular muscle enlargement. Superior rectus muscle inflammation may induce venous obstruction. (1961633)
1991
16
Exophthalmos in myelodysplastic syndrome. (1872149)
1991
17
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1989. Unilateral exophthalmos three years after treatment of cervical and mediastinal Hodgkin's disease. (2913509)
1989
18
Surgical treatment of thyrotoxic exophthalmos. (2813584)
1989
19
Steroid induced exophthalmos. A case report. (2775085)
1989
20
Somatomedin C in pathogenesis of malignant exophthalmos of endocrine origin. (2868246)
1986
21
Orbital decompression in endocrine exophthalmos of Graves' disease. (3839618)
1985
22
Exophthalmos secondary to massive intraocular gliosis in a patient with a colobomatous cyst. (6720845)
1984
23
Oskar Hirsch and surgery for exophthalmos. (6360480)
1983
24
Computerized tomography in endocrine exophthalmos: report of a case. (6896413)
1982
25
Pulsating exophthalmos: orbital tumors in siblings. (6820739)
1982
26
Recurrent Churg-Strauss vasculitis. With exophthalmos, hearing loss, nasal obstruction, amyloid deposits, hyperimmunoglobulinemia E, and circulating immune complexes. (6115626)
1981
27
Rhinoscleroma with exophthalmos: a case report. (7448152)
1981
28
Correlation between unilateral exophthalmos and thyroid diseases. (6777725)
1980
29
Exophthalmos in autoimmune thyroid disease. (6893711)
1980
30
Transantral orbital decompression for endocrine exophthalmos--an appraisal. (6893600)
1980
31
Acute endocrine exophthalmos. (952821)
1976
32
Experimental endocrine exophthalmos: II. Effect of patients' sera on radiosulfate incorporation. (4479728)
1974
33
Experimental exophthalmos. Alterations of normal hormone-receptor interactions in the pathogenesis of a disease. (4140169)
1974
34
Unilateral exophthalmos. (4686980)
1973
35
Exophthalmos due to rete mirabile abscess caused by infection with Corynebacterium pyogenes in cattle. (4578019)
1973
36
Ipsilateral exophthalmos in subfrontal epidural hematomas. Report of four cases. (5076380)
1972
37
Blepharoplasty in exophthalmos. (5544837)
1971
38
Relationship of thyrotropin to exophthalmos-producing substance. Formation of an exophthalmos-producing substance by pepsin digestion of pituitary glycoproteins containing both thyrotropic and exophthalmogenic activity. (4943675)
1971
39
Exophthalmos, stare, increase in intraocular pressure and systolic propulsion of the eyeballs due to congestive heart failure. (5474495)
1970
40
Evaluation of the relationship between long-acting thyroid stimulator, clinical and biological thyrotoxicosis and exophthalmos. (5695780)
1968
41
Increased urinary excretion of acidic mucopolysaccharides in exophthalmos. (4235688)
1968
42
Orbital venography in the diagnosis of intermittent exophthalmos. (5337703)
1967
43
Endocrine exophthalmos. (6071405)
1967
44
Studies on the exophthalmos-producing substance in Bufo regularis. (4299746)
1967
45
Radiological findings in exophthalmos. (4958168)
1966
46
Changes in ocular rigidity in endocrine exophthalmos. (13596559)
1958
47
The nature of endocrine exophthalmos. (13471481)
1957
48
INTRACRANIAL ARTERIO-VENOUS ANEURISM OR PULSATING EXOPHTHALMOS. (17865084)
1924
49
II. Pulsating Exophthalmos due to Traumatic Aneurism of the Internal Carotid Artery: Report of a Case Caused by a Bullet Wound of the Base of the Skull. (17861447)
1904
50
Case of Pulsating Exophthalmos in which both Common Carotid Arteries were ligated. (16691882)
1893

Genetic Variations for Exophthalmos

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Expression for genes affiliated with Exophthalmos

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exophthalmos

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Pathways for genes affiliated with Exophthalmos

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49PharmGKB, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Exophthalmos according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.7TGFB1, ACE
2
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9.2TGFB1, FGFR2, NF1, FLNA

Compounds for genes affiliated with Exophthalmos

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Exophthalmos according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1benazepril44 1111.0ACE, TGFB1
2ramipril44 1110.8ACE, TGFB1
3polyethylene glycol449.7PRL, TSHR, TGFB1
4ghrp449.6TRH, PRL
5pyridostigmine44 1110.6TRH, PRL
6cytochalasin d44 5910.5TGFB1, NF1, FLNA
7sulpiride44 28 1111.5TRH, PRL
8domperidone44 28 1111.5TRH, PRL
9ribonucleic acid449.5PRL, FGFR2, TSHR, TGFB1
10metoclopramide44 1110.4TRH, PRL
11paraffin449.3NF1, FGFR2, TSHR, TGFB1
12triiodothyronine449.3TSHR, TRH, PRL
13clonidine44 28 1111.3TGFB1, TRH, PRL
1412-o-tetradecanoylphorbol 13-acetate449.2TGFB1, TSHR, EIF6, FGFR2
15verapamil44 49 28 11 2413.1TRH, ACE, TGFB1
16fenfluramine28 44 1111.1TRH, PRL
17thyroxine44 2410.0PRL, TRH, TSHR, TGFB1
18alanine448.9FLNA, NF1, PABPN1, TSHR, TGFB1
19bromodeoxyuridine448.9TGFB1, FGFR2, TRH
20adenylate448.8NF1, TRH, FGFR2, PABPN1, TSHR
21arginine448.5PRL, NF1, TRH, FGFR2, PABPN1, TSHR
22oligonucleotide448.4FLNA, NF1, TRH, FGFR2, TSHR, TGFB1
23estrogen448.3PRL, NF1, TRH, FGFR2, TSHR, TGFB1
24progesterone44 59 28 11 2412.2TSHR, EIF6, FGFR2, TRH, NF1, PRL
25lipid447.8APPL1, FLNA, NF1, TRH, FGFR2, ACE

GO Terms for genes affiliated with Exophthalmos

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16Gene Ontology
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Cellular components related to Exophthalmos according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.6TGFB1, ACE, GPHB5, FGFR2, TRH, PRL

Biological processes related to Exophthalmos according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mononuclear cell proliferationGO:0329439.8TGFB1, ACE
2negative regulation of neuroblast proliferationGO:0074069.6NF1, TGFB1
3pigmentationGO:0434739.6FIG4, NF1
4positive regulation of epithelial cell proliferationGO:0506799.5TGFB1, FGFR2, PRL
5response to hypoxiaGO:0016668.9TGFB1, TRH, NF1

Molecular functions related to Exophthalmos according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.3TGFB1, FLNA, PRL, NF1, FIG4, FGFR2

Products for genes affiliated with Exophthalmos

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  • Antibodies
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  • Antibodies

Sources for Exophthalmos

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet