MCID: EXP004
MIFTS: 51

Exophthalmos malady

Summaries for Exophthalmos

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 graves' disease and cushing's syndrome. 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 brain, lung and heart, 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

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 45Novoseek, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM
See all sources

Aliases & Descriptions:

exophthalmos 8 10 61
proptosis 8 45


External Ids:

Disease Ontology8 DOID:9370
MeSH35 D005094
ICD9CM27 376.30

Related Diseases for Exophthalmos

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Exophthalmos family:

benign exophthalmos syndrome

Diseases related to Exophthalmos via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 253)
idRelated DiseaseScoreTop Affiliating Genes
1graves' disease30.7TSHR
2cushing's syndrome30.1TRH, PRL
3adenoma30.0PITX1, PRL, TRH, TSHR
4prolactinoma29.9TRH, PRL
5pituitary apoplexy29.7PRL, TRH
6acromegaly29.7TRH, PRL
7empty sella syndrome29.7TRH, PRL
8thyroiditis29.7TSHR, TRH
9pulsating exophthalmos10.7
10thyrotoxic exophthalmos10.4
11myxedema10.3
12thyrotoxicosis10.3
13neurofibromatosis10.2
14encephalocele10.2
15n syndrome10.1
16benign exophthalmos syndrome10.1
17scurvy10.1
18exophthalmic ophthalmoplegia10.0
19arteriovenous malformation10.0
20cavernous sinus thrombosis10.0
21constant exophthalmos10.0
22adenocarcinoma10.0
23melancholia10.0TRH
24obesity10.0TRH
25acth deficiency10.0PRL
26endogenous depression10.0TRH
27panic disorder10.0TRH
28neuropathy10.0PABPN1, FIG4
29mitral valve prolapse10.0TSHR
30polydactyly10.0FGFR2
31endemic goiter10.0TSHR
32nontoxic goiter10.0TSHR
33neonatal thyrotoxicosis10.0TSHR
34lung cancer10.0TGFB1
35glomerulonephritis10.0TGFB1
36pancreatitis10.0TGFB1
37diabetes insipidus10.0TRH, PRL
38hyperthyroxinemia10.0TSHR, TRH
39systemic scleroderma10.0ACE
40orbital cellulitis10.0
41cellulitis10.0
42ectomesenchymoma10.0
43myeloid sarcoma10.0
44fibrous dysplasia10.0
45multiple endocrine neoplasia10.0NF1
46urinary tract obstruction10.0ACE
47hydrocephalus10.0FLNA, NF1
48goiter10.0TRH, TSHR
49urticaria10.0ACE
50adrenal gland hyperfunction10.0PRL, TRH

Graphical network of the top 20 diseases related to Exophthalmos:



Diseases related to exophthalmos

Clinical Features for Exophthalmos

Drugs & Therapeutics for Exophthalmos

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Exophthalmos

Sources:
33MalaCards
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MalaCards organs/tissues related to Exophthalmos:

33
Brain, Lung, Heart, Thyroid, Salivary gland, Adrenal gland, Prostate, T cells, B lymphoblasts, B cells, Temporal lobe, Pituitary

Animal Models for Exophthalmos or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Exophthalmos

Sources:
51PubMed
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Articles related to Exophthalmos:

(show top 50)    (show all 571)
idTitleAuthorsYear
1
Exophthalmos due to multicentric B-cell lymphoma in a goat. (22654143)
2011
2
Exophthalmos as a first manifestation of small cell lung cancer: a long-term follow-up. (22220160)
2011
3
Severe exophthalmos in trigeminal plexiform neurofibroma involving the orbit and the infratemporal fossa. (19364654)
2009
4
Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle. (18836565)
2008
5
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. (18674647)
2008
6
Correction of lid retraction and exophthalmos. (18453764)
2008
7
Tailor-made orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos. Case report. (17330538)
2007
8
Unilateral exophthalmos associated with ipsilateral mucosal turbinate hypertrophy: benign exophthalmos syndrome (BES). A description of a new clinical condition. (16329069)
2005
9
Exophthalmos and orbital floor thickening related to maxillary sinusitis. (12644767)
2003
10
Physical signs for the general dental practitioner. Case 6: Exophthalmos. (12955959)
2003
11
Unilateral exophthalmos in a 2(1/2) year old girl. (11970926)
2002
12
A giant prolactinoma presenting with unilateral exophthalmos: effect of cabergoline and review of the literature. (10908167)
2000
13
Multifocal fibrosclerosis presenting as Grave's orbitopathy. Bilateral exophthalmos associated with retroperitoneal and sellar fibrosis. (10090590)
1999
14
Exophthalmos associated with frontal sinus osteomyelitis in a puppy. (8542356)
1995
15
History and clinical signs. Bilateral exophthalmos, and left lagophthalmos and corneal ulceration. (7648545)
1995
16
Grades of exophthalmos and thyrotropin-binding inhibitory immunoglobulin in patients with myasthenia gravis. (7796844)
1995
17
Polyarteritis nodosa (PN) complicated with unilateral exophthalmos. (8101107)
1993
18
Diagnostic exercise: exophthalmos in a ground squirrel. (2166872)
1990
19
Complex neuroradiologic diagnosis in unilateral exophthalmos. (2242339)
1990
20
Epidural haematoma and unilateral exophthalmos--a review. (2672704)
1989
21
Left carotido-cavernous fistula with right exophthalmos: treatment by detachable balloon. Case report and literature review. (2931617)
1985
22
Surgical treatment for malignant exophthalmos of endocrine origin. (6472017)
1984
23
Exophthalmos in hemoglobin SC disease. (6848736)
1983
24
Echographic study of exophthalmos and neoformative endocular pathology in childhood. (7143080)
1982
25
Case report. Steroid exophthalmos. (7033312)
1981
26
Exophthalmos caused by an invasive pituitary adenoma in a child. (548845)
1979
27
Dural arteriovenous malformation with false aneurysm and exophthalmos. A successfully treated case. (707169)
1978
28
Computer assisted tomography in 90 cases of exophthalmos. (617613)
1977
29
Intermittent exophthalmos due to orbital varicose vein accompanied by varicose veins of the legs. (1247263)
1976
30
Comparison of ultrasonography, computerized tomography (EMI scan), and radiographic techniques in evaluation of exophthalmos. (936403)
1976
31
The differential diagnosis of exophthalmos. (1220908)
1975
32
Prevention of malignant exophthalmos after treatment of thyrotoxicosis. (4123593)
1973
33
Cell-mediated immunity in the exophthalmos of Graves' disease as demonstrated by the migration inhibition factor (MIF) test. (4740520)
1973
34
Blowout fracture of the orbital roof with pulsating exophthalmos, blepharoptosis, and superior gaze paresis. (5562511)
1971
35
Prophylaxis against exophthalmos or its progression in newly-treated thyrotoxicosis. (5006666)
1971
36
Long-acting thyroid stimulator (LATS) in hyperthyroidism and exophthalmos. (5392781)
1969
37
Investigation of endocrine exophthalmos. (5818230)
1969
38
Observations on the course of exophthalmos after 131-I therapy. (5818231)
1969
39
Long-acting thyroid stimulator and exophthalmos. (4181434)
1969
40
Radioactive scanning in the analysis of unilateral exophthalmos. (5357341)
1969
41
Trans-antral ethmoid decompression in malignant exophthalmos. (5795336)
1969
42
Mechanisms of Graves' disease and endocrine exophthalmos. (4895778)
1969
43
Cataract extraction in the presence of pulsating exophthalmos. (4975333)
1969
44
Simultaneous bioassay of exophthalmos-producing and thyrotrophic substances. I. The EPS assay. (5695045)
1968
45
Immune exophthalmos due to harderian gland antigen. (5685972)
1968
46
Unilateral pulsating exophthalmos in von Recklinghausen's disease. (4964637)
1967
47
Dysthyroid exophthalmos. Palliation by lateral orbital decompression. (4161484)
1966
48
ENDOCRINE EXOPHTHALMOS. (14283811)
1965
49
Endocrine exophthalmos. Effects of thyrotropin preparations and the thyroxin isomers. Quantitative evaluations in guinea pigs. (13775892)
1961
50
Pulsating Exophthalmos. (19974124)
1910

Genetic Variations for Exophthalmos

Expression for genes affiliated with Exophthalmos

Sources:
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

Sources:
50PharmGKB, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Exophthalmos according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Exophthalmos

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Exophthalmos according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1benazepril45 1111.0ACE, TGFB1
2ramipril45 1110.8ACE, TGFB1
3polyethylene glycol459.7PRL, TSHR, TGFB1
4ghrp459.6TRH, PRL
5pyridostigmine45 1110.6TRH, PRL
6cytochalasin d45 6010.5TGFB1, NF1, FLNA
7sulpiride45 29 1111.5TRH, PRL
8domperidone45 29 1111.5TRH, PRL
9ribonucleic acid459.5PRL, FGFR2, TSHR, TGFB1
10metoclopramide45 1110.4TRH, PRL
11paraffin459.3NF1, FGFR2, TSHR, TGFB1
12triiodothyronine459.3TSHR, TRH, PRL
13clonidine45 29 1111.3TGFB1, TRH, PRL
1412-o-tetradecanoylphorbol 13-acetate459.2TGFB1, TSHR, EIF6, FGFR2
15verapamil45 50 29 11 2413.1TRH, ACE, TGFB1
16fenfluramine29 45 1111.1TRH, PRL
17thyroxine45 2410.0PRL, TRH, TSHR, TGFB1
18alanine458.9FLNA, NF1, PABPN1, TSHR, TGFB1
19bromodeoxyuridine458.9TGFB1, FGFR2, TRH
20adenylate458.8NF1, TRH, FGFR2, PABPN1, TSHR
21arginine458.5PRL, NF1, TRH, FGFR2, PABPN1, TSHR
22oligonucleotide458.4FLNA, NF1, TRH, FGFR2, TSHR, TGFB1
23estrogen458.3PRL, NF1, TRH, FGFR2, TSHR, TGFB1
24progesterone45 60 29 11 2412.2TSHR, EIF6, FGFR2, TRH, NF1, PRL
25lipid457.8APPL1, FLNA, NF1, TRH, FGFR2, ACE

GO Terms for genes affiliated with Exophthalmos

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exophthalmos

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet