MCID: EXP004
MIFTS: 55

Exophthalmos malady

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

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

MalaCards based summary: 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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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 44Novoseek, 39NCIt, 34MeSH, 57SNOMED-CT, 27ICD9CM
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Exophthalmos, Aliases & Descriptions:

Name: Exophthalmos 8 10 62
 
Proptosis 8 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:9370
MeSH34 D005094
ICD9CM27 376.30

Related Diseases for Exophthalmos

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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 306)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.9TRH, TSHR
2thyrotoxicosis30.6TRH, TSHR
3cushing's syndrome30.2PRL, TRH
4hyperthyroidism30.2TRH, TSHR, PRL
5empty sella syndrome30.1PRL, TRH
6prolactinoma30.0PRL, TRH
7hypothyroidism30.0TRH, TSHR
8strabismus30.0FGFR2, TSHR
9goiter30.0TRH, TSHR
10acromegaly29.9PRL, TRH
11pituitary adenoma29.8PRL, PITX1, TRH, FGFR2
12adenoma29.7TRH, PRL, TSHR, PITX1
13endocrine exophthalmos10.8
14pulsating exophthalmos10.7
15graves' disease10.5
16melancholia10.5TRH
17endogenous depression10.5TRH
18acth deficiency10.4PRL
19thyrotoxic exophthalmos10.3
20myxedema10.3
21ophthalmoplegia10.3
22neurofibromatosis10.3
23aneurysm10.2
24pituitary apoplexy10.2PRL, TRH
25diabetes insipidus10.2PRL, TRH
26craniopharyngioma10.2TRH, PRL
27amenorrhea10.2PRL, TRH
28adrenal gland hyperfunction10.2TRH, PRL
29encephalocele10.2
30neuroendocrine tumor10.2PRL, TRH
31hyperprolactinemia10.2PRL, TRH
32cerebrovascular disease10.2TRH, ACE
33skeletal dysplasia multi-gene panels10.1FGFR2, FLNA
34hypopituitarism10.1TRH, PRL
35hyperthyroxinemia10.1TRH, TSHR
36sinusitis10.1
37meningioma10.1
38benign exophthalmos syndrome10.1
39klinefelter's syndrome10.1TRH, PRL
40scurvy10.1
41inverted papilloma10.1
42papilloma10.1
43primary hyperoxaluria10.1ACE, TRH
44arteriovenous fistula10.1
45exophthalmic ophthalmoplegia10.1
46constant exophthalmos10.1
47arteriovenous malformation10.1
48adenocarcinoma10.1
49lung cancer10.1
50myeloma10.1

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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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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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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Publications for Exophthalmos

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Articles related to Exophthalmos:

(show top 50)    (show all 570)
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
Cranial tumors in aged cattle causing Horner's syndrome and exophthalmos. (6478839)
1984
21
Diagnosis of exophthalmos using orbital ultrasonography and treatment of malignant exophthalmos with steroid therapy, orbital radiation therapy, and plasmapheresis. (6134291)
1983
22
Computerized tomography in endocrine exophthalmos: report of a case. (6896413)
1982
23
Anisocoria and ipsilateral exophthalmos during enflurane anesthesia. (7114547)
1982
24
Case report. Steroid exophthalmos. (7033312)
1981
25
Cosmetic correction of eyelid deformities associated with exophthalmos. (6896024)
1981
26
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. (6782020)
1980
27
Exophthalmos and pretibial myxoedema not responding to plasmapheresis. (486950)
1979
28
Results of transantral decompression in hyperthyroid exophthalmos. (923413)
1977
29
Letter: Computerized axial tomography in patients with exophthalmos. (773355)
1976
30
Rheumatoid scleritis producing exophthalmos. (1131332)
1975
31
Chondrosarcoma of the maxillary antrum presenting as exophthalmos. (1061464)
1975
32
Surgical decompression of the orbit for endocrine exophthalmos. (4534105)
1974
33
Studies on the activity of the exophthalmos-producing substance (E.P.S.). II. Lack of suppressibility by thyroxine. (4938108)
1970
34
Endocrine exophthalmos. (5537363)
1970
35
Response of experimental exophthalmos to guanethidine type drugs. (5531584)
1970
36
Long-acting thyroid stimulator (LATS) in hyperthyroidism and exophthalmos. (5392781)
1969
37
The effect of triiodothyronine on cervical lymphoid structures, thyroid activity, IgG and IgM immunoglobulin level and exophthalmos in Graves' disease. (4184992)
1969
38
Simultaneous bioassay of exophthalmos-producing and thyrotrophic substances. I. The EPS assay. (5695045)
1968
39
Retrobulbar connective tissue in TSH-induced exophthalmos in the crucian carp (Carassius carassius L.). (4230853)
1968
40
Evaluation of the relationship between long-acting thyroid stimulator, clinical and biological thyrotoxicosis and exophthalmos. (5695780)
1968
41
Orbital venography in the diagnosis of intermittent exophthalmos. (5337703)
1967
42
The pathological basis for postural (intermittent) exophthalmos. Case report. (6027447)
1967
43
Unilateral pulsating exophthalmos in von Recklinghausen's disease. (4964637)
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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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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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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Compounds related to Exophthalmos according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1guanine44 24 1111.6FGFR2, TSHR, FLNA
2ghrp449.6PRL, TRH
3pyridostigmine44 1110.6TRH, PRL
4sulpiride44 28 1111.6TRH, PRL
5domperidone44 28 1111.6TRH, PRL
6fenfluramine44 28 1111.6PRL, TRH
7phenylalanine449.6FLNA, FGFR2, TSHR
8metoclopramide44 50 1111.5TRH, PRL
9deoxyribonucleic acid449.5FGFR2, TSHR
10ribonucleic acid449.5FGFR2, TSHR, PRL
11iodine44 2410.5TSHR, TRH
12apomorphine28 44 1111.5PRL, TRH
13methimazole44 2 1111.4TRH, TSHR
14bromocriptine44 28 1111.4TRH, PRL
15naloxone44 28 50 1112.4TRH, PRL
1612-o-tetradecanoylphorbol 13-acetate449.3EIF6, FGFR2, TSHR
17gnrh449.3PITX1, TRH, PRL
18clonidine44 50 28 1112.2PRL, TRH
19triiodothyronine449.2TRH, PRL, TSHR
20thyroxine44 2410.2TRH, PRL, TSHR
21acth449.1TSHR, PRL, TRH
22norepinephrine44 24 1110.9PRL, TRH, ACE
23octreotide44 61 28 1111.9TRH, PRL
24adenylate448.9TRH, TSHR, PABPN1, FGFR2
25dopamine44 28 24 1111.9FLNA, PRL, TRH
26estradiol44 24 1110.9TSHR, TRH, PRL
27oligonucleotide448.8FLNA, FGFR2, TRH, TSHR
28estrogen448.6FGFR2, TRH, PRL, TSHR
29arginine448.5PRL, PABPN1, TRH, FGFR2, TSHR
30glucose448.3ACE, TRH, FGFR2, TSHR, PRL
31progesterone44 28 61 24 1112.2FGFR2, TRH, EIF6, PRL, TSHR
32tyrosine448.1TRH, EIF6, TSHR, FLNA, FGFR2
33lipid447.8FLNA, APPL1, TSHR, ACE, TRH, FGFR2

GO Terms for genes affiliated with Exophthalmos

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet