MCID: EXP004
MIFTS: 54

Exophthalmos malady

Eye diseases, Cancer diseases, Rare diseases categories
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Summaries for Exophthalmos

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Wikipedia:65 Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye... more...

MalaCards: Exophthalmos, also known as proptosis, is related to thyroiditis and thyrotoxicosis. An important gene associated with Exophthalmos is PITX1 (paired-like homeodomain 1), and among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. The compounds guanine and ghrp have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and bone, and related mouse phenotypes are adipose tissue and cardiovascular system.

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, 45Novoseek, 62UMLS, 35MeSH, 40NCIt, 27ICD9CM, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

exophthalmos 8 10 62
proptosis 8 45


External Ids:

Disease Ontology8 DOID:9370
MeSH35 D005094
ICD9CM27 376.30

Related Diseases for Exophthalmos

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Sources:
17GeneCards, 18GeneDecks
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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 300)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.8TRH, TSHR
2thyrotoxicosis30.4TRH, TSHR
3hyperthyroidism30.3TRH, TSHR, PRL
4cushing's syndrome30.2PRL, TRH
5adenoma30.0TRH, PRL, TSHR, PITX1
6prolactinoma30.0PRL, TRH
7hypothyroidism30.0TRH, TSHR
8strabismus30.0FGFR2, TSHR
9goiter30.0TRH, TSHR
10pituitary adenoma29.9PRL, PITX1, TRH, FGFR2
11empty sella syndrome29.8PRL, TRH
12acromegaly29.8PRL, TRH
13endocrine exophthalmos10.8
14pulsating exophthalmos10.7
15graves' disease10.5
16thyrotoxic exophthalmos10.3
17myxedema10.3
18neurofibromatosis10.2
19ophthalmoplegia10.2
20aneurysm10.2
21glaucoma10.2
22encephalocele10.2
23encephaloceles10.2
24meningioma10.1
25sinusitis10.1
26benign exophthalmos syndrome10.1
27melancholia10.1TRH
28endogenous depression10.1TRH
29acth deficiency10.1PRL
30scurvy10.1
31inverted papilloma10.1
32papilloma10.1
33constant exophthalmos10.1
34arteriovenous malformation10.1
35exophthalmic ophthalmoplegia10.1
36adenocarcinoma10.1
37lung cancer10.1
38myeloma10.1
39seminoma10.1
40pituitary tumors10.1
41pituitary apoplexy10.0PRL, TRH
42diabetes insipidus10.0PRL, TRH
43craniopharyngioma10.0TRH, PRL
44amenorrhea10.0PRL, TRH
45adrenal gland hyperfunction10.0TRH, PRL
46neuroendocrine tumor10.0PRL, TRH
47hyperprolactinemia10.0PRL, TRH
48cerebrovascular disease10.0TRH, ACE
49skeletal dysplasias10.0FGFR2, FLNA
50hypopituitarism10.0TRH, PRL

Graphical network of the top 20 diseases related to Exophthalmos:



Diseases related to exophthalmos

Symptoms for Exophthalmos

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Drugs & Therapeutics for Exophthalmos

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Exophthalmos

Search NIH Clinical Center for Exophthalmos

Genetic Tests for Exophthalmos

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Anatomical Context for Exophthalmos

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33MalaCards
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MalaCards organs/tissues related to Exophthalmos:

33
Eye, Thyroid, Bone, Pituitary, Lung, Prostate, Salivary gland, B cells, Heart, Testes, Brain

Animal Models for Exophthalmos or affiliated genes

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37MGI
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Publications for Exophthalmos

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Sources:
52PubMed
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Articles related to Exophthalmos:

(show top 50)    (show all 562)
idTitleAuthorsYear
1
Intradiploic hematoma of the frontal bone with secondary exophthalmos in a mare. (23953510)
2013
2
Intraorbital epidermoid cyst: a 5-year-old with exophthalmos and strabismus. (22446470)
2012
3
Bilateral exophthalmos in a rabbit. Diagnosis: Thymoma. (20729825)
2010
4
A new technique for the treatment of lagophthalmos in patients with stabilized exophthalmos in Graves-Basedow disease. (19050494)
2008
5
Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle. (18836565)
2008
6
A sphenoid en plaque meningioma aggravates exophthalmos in a patient with thyroid ophthalmopathy. (16761251)
2006
7
Bilateral exophthalmos in a Holstein cow with lymphosarcoma. (13677600)
2003
8
Unilateral exophthalmos caused by an extramedullary plasmacytoma: a case report. (23365508)
2003
9
Exophthalmos: a rare complication of systemic corticosteroids. (11989195)
2002
10
Surgical treatment of endocrine exophthalmos by removal of orbital fat: clinical experience. (12436178)
2002
11
Bilateral ophthalmoplegia and exophthalmos complicating central hemodialysis catheter placement. (10213657)
1999
12
Exophthalmos associated with frontal sinus osteomyelitis in a puppy. (8542356)
1995
13
Blepharoplasty in the patient with exophthalmos. (8485936)
1993
14
Treatment of exophthalmos. (1732917)
1992
15
Optic nerve involvement in endocrine exophthalmos. (2079900)
1990
16
Radiotherapy in emergency treatment of malignant exophthalmos. (2109354)
1990
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
Epidural haematoma and unilateral exophthalmos--a review. (2672704)
1989
19
Exophthalmos in a horse resulting from an adenocarcinoma of the frontal sinus. (2607529)
1989
20
Rhabdomyolysis of the ocular muscles as a cause of unilateral exophthalmos. (3356534)
1988
21
Cranial tumors in aged cattle causing Horner's syndrome and exophthalmos. (6478839)
1984
22
Diagnosis of exophthalmos using orbital ultrasonography and treatment of malignant exophthalmos with steroid therapy, orbital radiation therapy, and plasmapheresis. (6134291)
1983
23
Computerized tomography in endocrine exophthalmos: report of a case. (6896413)
1982
24
Anisocoria and ipsilateral exophthalmos during enflurane anesthesia. (7114547)
1982
25
Case report. Steroid exophthalmos. (7033312)
1981
26
Cosmetic correction of eyelid deformities associated with exophthalmos. (6896024)
1981
27
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. (6782020)
1980
28
Exophthalmos and pretibial myxoedema not responding to plasmapheresis. (486950)
1979
29
Results of transantral decompression in hyperthyroid exophthalmos. (923413)
1977
30
Letter: Computerized axial tomography in patients with exophthalmos. (773355)
1976
31
Rheumatoid scleritis producing exophthalmos. (1131332)
1975
32
Chondrosarcoma of the maxillary antrum presenting as exophthalmos. (1061464)
1975
33
Surgical decompression of the orbit for endocrine exophthalmos. (4534105)
1974
34
Studies on the activity of the exophthalmos-producing substance (E.P.S.). II. Lack of suppressibility by thyroxine. (4938108)
1970
35
Endocrine exophthalmos. (5537363)
1970
36
Response of experimental exophthalmos to guanethidine type drugs. (5531584)
1970
37
Long-acting thyroid stimulator (LATS) in hyperthyroidism and exophthalmos. (5392781)
1969
38
The effect of triiodothyronine on cervical lymphoid structures, thyroid activity, IgG and IgM immunoglobulin level and exophthalmos in Graves' disease. (4184992)
1969
39
Simultaneous bioassay of exophthalmos-producing and thyrotrophic substances. I. The EPS assay. (5695045)
1968
40
Retrobulbar connective tissue in TSH-induced exophthalmos in the crucian carp (Carassius carassius L.). (4230853)
1968
41
Evaluation of the relationship between long-acting thyroid stimulator, clinical and biological thyrotoxicosis and exophthalmos. (5695780)
1968
42
Orbital venography in the diagnosis of intermittent exophthalmos. (5337703)
1967
43
The pathological basis for postural (intermittent) exophthalmos. Case report. (6027447)
1967
44
Aleukaemic leukaemia and exophthalmos in children. (4880741)
1967
45
Incidence of different malignant tumours of nasopharynx with exophthalmos in U.A.R. (Egypt). (5602908)
1967
46
Unilateral exophthalmos. Discussion of management of thyroid ophthalmopathy. (5953026)
1966
47
Radiological findings in exophthalmos. (4958168)
1966
48
Pulsating exophthalmos in von Recklinghausen's disease. (13514496)
1958
49
Pulsating Exophthalmos. (19993105)
1945
50
Pulsating Exophthalmos: Arterio-Venous Aneurysm. (19989361)
1933

Variations for Exophthalmos

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Expression for genes affiliated with Exophthalmos

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2BioGPS, 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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50PathCards, 54R&D Systems, 38NCBI BioSystems Database
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Pathways related to Exophthalmos according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ACE, APPL1
29.4ACE, APPL1
39.2TRH, TSHR

Compounds for genes affiliated with Exophthalmos

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 3BitterDB, 61Tocris Bioscience
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Compounds related to Exophthalmos according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1guanine45 24 1111.6FGFR2, TSHR, FLNA
2ghrp459.6PRL, TRH
3pyridostigmine45 1110.6TRH, PRL
4sulpiride45 29 1111.6PRL, TRH
5domperidone45 29 1111.6TRH, PRL
6fenfluramine45 29 1111.6TRH, PRL
7phenylalanine459.6FGFR2, TSHR, FLNA
8metoclopramide45 51 1111.5TRH, PRL
9deoxyribonucleic acid459.5FGFR2, TSHR
10iodine45 2410.5TSHR, TRH
11ribonucleic acid459.5TSHR, PRL, FGFR2
12apomorphine29 45 1111.5TRH, PRL
13methimazole45 3 1111.4TRH, TSHR
14bromocriptine45 29 1111.4TRH, PRL
15naloxone45 29 51 1112.4TRH, PRL
1612-o-tetradecanoylphorbol 13-acetate459.3FGFR2, EIF6, TSHR
17gnrh459.3PITX1, PRL, TRH
18clonidine45 51 29 1112.2TRH, PRL
19triiodothyronine459.2TRH, PRL, TSHR
20thyroxine45 2410.2TSHR, PRL, TRH
21acth459.1TSHR, PRL, TRH
22octreotide45 61 29 1111.9PRL, TRH
23norepinephrine45 24 1110.9PRL, ACE, TRH
24adenylate458.9FGFR2, TRH, TSHR, PABPN1
25dopamine45 29 24 1111.9TRH, PRL, FLNA
26estradiol45 24 1110.9TSHR, PRL, TRH
27oligonucleotide458.8FLNA, TSHR, TRH, FGFR2
28estrogen458.6TSHR, PRL, TRH, FGFR2
29arginine458.5PABPN1, TSHR, PRL, TRH, FGFR2
30glucose458.3TSHR, PRL, ACE, TRH, FGFR2
31progesterone45 29 61 24 1112.2FGFR2, TRH, EIF6, PRL, TSHR
32tyrosine458.1FLNA, TSHR, EIF6, TRH, FGFR2
33lipid457.8APPL1, FLNA, TSHR, ACE, TRH, FGFR2

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:0055768.0FGFR2, TRH, ACE, PRL, FLNA

Biological processes related to Exophthalmos according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:0603489.8FGFR2, ASXL1
2regulation of multicellular organism growthGO:0400149.7FGFR2, PRL
3epithelial to mesenchymal transitionGO:0018379.5FGFR2, FLNA
4cell-cell signalingGO:0072678.7FGFR2, TRH, TSHR

Molecular functions related to Exophthalmos according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.6FGFR2, EIF6, ACE, PRL, ASXL1, TSHR

Products for genes affiliated with Exophthalmos

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Exophthalmos

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet