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
A mysterious post-traumatic pulsatile exophthalmos. (24022797)
2014
2
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
3
Congenital orbital encephalocele, orbital dystopia, and exophthalmos. (22801176)
2012
4
Index of suspicion: Case 1: Abdominal trauma, pain, and tenderness associated with anemia and hematuria in a 14-year-old boy. Case 2: Ptosis, diplopia, tremors, and mild exophthalmos in a 9-year-old girl. Case 3: Persistent cough, shortness of breath, and localized decreased aeration in an 18-year-old girl. (22045898)
2011
5
Teaching Video NeuroImages: positional exophthalmos in orbital varices. (19564578)
2009
6
Endoscopic transnasal surgical approach for monolateral myopic non-Graves' exophthalmos: a case report. (17970437)
2007
7
Orbital morphology in exophthalmos and exorbitism. (16462337)
2006
8
Transforniceal lateral deep bone decompression--a modified technique to prevent postoperative diplopia in patients with disfiguring exophthalmos due to dysthyroid orbitopathy. (16935761)
2006
9
Reliability of exophthalmos measurement and the exophthalmometry value distribution in a healthy Dutch population and in Graves' patients. An exploratory study. (15545129)
2004
10
A case of squamous cell carcinoma of the lung associated with exophthalmos and hypercalcemia]. (9492473)
1998
11
Diagnostic ophthalmology. Exophthalmos. (7859221)
1995
12
Paget's disease presenting with exophthalmos. (7821481)
1994
13
Radiotherapy in emergency treatment of malignant exophthalmos. (2109354)
1990
14
The management of thyroid exophthalmos. (2131225)
1990
15
Management of progressive exophthalmos. (2387602)
1990
16
Decompression of the orbit using a lateral rhinotomy approach in patients with malignant endocrine exophthalmos. (2350895)
1990
17
Exophthalmos in a horse resulting from an adenocarcinoma of the frontal sinus. (2607529)
1989
18
Invasive sinonasal polyps causing ophthalmoplegia, exophthalmos, and visual field loss. (2616151)
1989
19
A case of exophthalmos due to an AVM in Galen's vein area with ophthalmic venous drainage. Treatment by the endovascular route. (2947983)
1986
20
Exophthalmos, global luxation, rapid weight gain: differential diagnosis. (7125468)
1982
21
Cosmetic correction of eyelid deformities associated with exophthalmos. (6896024)
1981
22
Serum thyroglobulin, its autoantibody and thyroid stimulating antibodies in the endocrine exophthalmos. (6894054)
1981
23
Results of transantral decompression in hyperthyroid exophthalmos. (923413)
1977
24
Endocrine exophthalmos: an immunologic aberration. (327376)
1977
25
Cytoenzymology and 3H-thymidine uptake of retro-ocular connective tissue cultures in experimental endocrino-exophthalmos. (1066590)
1976
26
Rheumatoid scleritis producing exophthalmos. (1131332)
1975
27
Diagnosis and management of dysthyroid exophthalmos. (1242206)
1975
28
Exophthalmos. (1124199)
1975
29
Surgical decompression of the orbit for endocrine exophthalmos. (4534105)
1974
30
Modern examination methods of orbital disease. Thyroid exophthalmos. (4277577)
1974
31
Letter: Spontaneous primary hypothyroidism with unilateral exophthalmos. (4414403)
1974
32
Letter: Spontaneous primary hypothyroidism with exophthalmos. (4479826)
1974
33
A problem in the bioassay of exophthalmos-producing activity using goldfish. (4665973)
1972
34
Eight clinical varieties for endocrine exophthalmos. (5396087)
1969
35
The effect of metronidazole on exophthalmos in man. (4179963)
1968
36
Light induced exophthalmos in the domestic fowl. (5988012)
1967
37
Endocrine exophthalmos. Humoral and orbital factors. (6071321)
1967
38
Unilateral exophthalmos. (5993056)
1966
39
Failure of a new TSH inhibitor, the methyl ether of triiodothyrepropionic acid, in the treatment of endocrine exophthalmos. (13951708)
1963
40
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case. (13898627)
1962
41
Endocrine exophthalmos. (14039011)
1962
42
Pulsating exophthalmos in von Recklinghausen's disease. (13514496)
1958
43
Pulsating exophthalmos; report of 2 cases. (13608759)
1958
44
Congenital defect of the bony orbit and pulsating exophthalmos. (13354146)
1956
45
CORTISONE in exophthalmos: report on a therapeutic trial of cortisone and corticotrophin (A.C.T.H.) in exophthalmos and exophthalmic ophthalmoplegia by a panel appointed by the Medical Research Council. (13222835)
1955
46
Relationship of hypercementosis to the exophthalmos of hyperthyroidism. (13217541)
1954
47
Endocrine exophthalmos (in Hebrew; English summary). (15435931)
1950
48
Thyrotoxic exophthalmos with myopathy. (18135020)
1949
49
INTRACRANIAL ARTERIO-VENOUS ANEURISM OR PULSATING EXOPHTHALMOS. (17865057)
1924
50
XI. The Treatment of Pulsating Exophthalmos. (17861430)
1904

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

Search GEO for disease gene expression data for Exophthalmos.

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
  • Proteins
  • Lysates
  • 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