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, 60UMLS, 44Novoseek, 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, Salivary gland, B cells, Heart, Brain, Testes

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
Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome. (23555062)
2013
2
A pitfall of decompression for severe exophthalmos: role of the posterior wall of the maxillary sinus-1. (21772185)
2011
3
Visual vignette. Steroid-induced exophthalmos. (20713333)
2011
4
Dynamic exophthalmos secondary to an orbital varix. (24256753)
2008
5
Exophthalmos: a rare complication of systemic corticosteroids. (11989195)
2002
6
A complication of peribulbar block in a patient with exophthalmos. (9924245)
1998
7
Computed tomography and magnetic resonance imaging of cavernous sinus enlargement in a dog with unilateral exophthalmos. (9335094)
1997
8
Malignant bilateral exophthalmos and secondary glaucoma in iatrogenic Cushing's syndrome. (9101572)
1997
9
Treatment of exophthalmos. (1546098)
1992
10
Unilateral facial swelling and exophthalmos in a patient with polyarteritis nodosa. (1352998)
1992
11
Unilateral exophthalmos caused by an anterior ethmoidal meningoencephalocele. (1546089)
1992
12
Rapidly expanding exophthalmos: an unusual presentation of small cell lung cancer. (2546578)
1989
13
Exophthalmos in ageing rats with Harderian gland disease. (3702330)
1986
14
Cranial tumors in aged cattle causing Horner's syndrome and exophthalmos. (6478839)
1984
15
Ophthalmic surgery in malignant exophthalmos. (6895548)
1981
16
Orbital decompression of exophthalmos. (7367005)
1980
17
Exophthalmos and pretibial myxoedema not responding to plasmapheresis. (486950)
1979
18
Orbital decompression and infraorbital augmentation for correction of exophthalmos secondary to Cruzon disease. (272460)
1978
19
Unilateral exophthalmos: an unusual presentation of primary hyperparathyroidism. (727953)
1978
20
Evaluation of unilateral exophthalmos with ultrasonography: analysis of 258 consecutive cases. (1242787)
1975
21
Unilateral exophthalmos. Case reports. (5026617)
1972
22
Endocrine exophthalmos. (5067997)
1972
23
Ocular complications of transantral decompression for thyrotrophic exophthalmos. (5114294)
1971
24
Studies on the activity of the exophthalmos-producing substance (E.P.S.). II. Lack of suppressibility by thyroxine. (4938108)
1970
25
Endocrine exophthalmos. (5537363)
1970
26
Studies on the activity of the exophthalmos-producing substance (E.P.S.). 3. Correlation with the degree of exophthalmos. (5535304)
1970
27
Electromyography of the extraocular muscles in exophthalmos. A contribution to the problem of differential diagnosis. (5394341)
1969
28
Simple tumours of orbital bones and exophthalmos (not including osteomas). (5744645)
1968
29
Transantral orbital decompression in malignant exophthalmos. (5659560)
1968
30
Needle aspiration of malignant (progressive) endocrine exophthalmos. (5699320)
1968
31
Aleukaemic leukaemia and exophthalmos in children. (4880741)
1967
32
Bilateral exophthalmos in seminoma. (4168317)
1967
33
Acute undifferentiated cell leukaemia and exophthalmos. (4880740)
1967
34
Tonography and visual fields in endocrine exophthalmos. Report on 29 patients. (6028635)
1967
35
The correlation between endocrine exophthalmos and exophthalmos producing substance (EPS). (5952376)
1966
36
Exophthalmos in a woman with lingual, subhyoid and lateral-lobe thyroid glands. (17926377)
1966
37
Unilateral exophthalmos. (5898395)
1965
38
D-thyroxine in the treatment of patients with endocrine exophthalmos. (5899951)
1964
39
THE VALUE OF ANGIOGRAPHY IN THE DIFFERENTIAL DIAGNOSIS OF PULSATING EXOPHTHALMOS; A REPORT OF 3 CASES. (14186116)
1964
40
PARALLEL ASSAYS OF THYROTROPHIN, LONG-ACTING THYROID STIMULATOR AND EXOPHTHALMOS-PRODUCING SUBSTANCE IN ENDOCRINE EXOPHTHALMOS AND PRETIBIAL MYXEDEMA. (14228536)
1964
41
In vitro sulfation of orbital tissues of the guinea pig. II. Relationship to endocrine exophthalmos. (13951709)
1962
42
Electromyographic study of the eye muscles in endocrine exophthalmos. (13734810)
1961
43
Endocrine exophthalmos. (14447755)
1960
44
Pulsating exophthalmos caused by carotidcavernous fistulas. (13715516)
1960
45
An assessment of modern views on the nature of endocrine exophthalmos. (13409533)
1956
46
Post-traumatic pulsating exophthalmos caused by perforation of an eroded orbital roof by a hydrocephalic brain. (13053255)
1953
47
Unilateral pulsating exophthalmos associated with multiple bony tumours (some pulsating) and nodular thyroid swelling. (12993804)
1952
48
THREE CASES OF TRAUMATIC PULSATING EXOPHTHALMOS. (18168862)
1930
49
PULSATING EXOPHTHALMOS TREATED BY SLOW OCCLUSION OF THE COMMON CAROTID ARTERY WITH THE NEFF CLAMP. (18736749)
1915
50
Report of Two Cases of Pulsating Exophthalmos. Relief of one by Ligation of the Common Carotid; Relief of the Other by Ligation of the Common Carotid, Followed after Recurrence by Ligation of the Internal Carotid. (16692232)
1911

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
  • Proteins
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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