Aliases & Classifications for Pseudopapilledema

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Aliases & Descriptions for Pseudopapilledema:

Name: Pseudopapilledema 10 12 65

Classifications:



External Ids:

Disease Ontology10 DOID:1392
ICD9CM29 377.24
SNOMED-CT59 57138009
MeSH36 C562401
UMLS65 C0155300

Summaries for Pseudopapilledema

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Wikipedia:68 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

MalaCards based summary: Pseudopapilledema is related to pseudopapilledema blepharophimosis hand anomalies and bannayan-riley-ruvalcaba syndrome, and has symptoms including excessive eye blinking, ocular signs and symptoms nec and scotoma, scintillating. An important gene associated with Pseudopapilledema is TBCE (Tubulin Folding Cofactor E), and among its related pathways are Th2 Differentiation Pathway and Notch signaling pathway (Pathway Interaction Database). Affiliated tissues include eye, lung and thyroid, and related mouse phenotypes are tumorigenesis and hearing/vestibular/ear.

Related Diseases for Pseudopapilledema

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Diseases related to Pseudopapilledema via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1pseudopapilledema blepharophimosis hand anomalies12.0
2bannayan-riley-ruvalcaba syndrome11.1
3acro-oto-ocular syndrome10.9
4papilledema10.3
5leber congenital amaurosis10.3IGF1, PAX6
6clitoris cancer10.2IGF2, PAX6
7epithelial predominant wilms' tumor10.2IGF2, PAX6
8isolated levocardia10.1IGF1, PAX6
9vagus nerve disease10.1IGF1, IGF2
10fetal methimazole syndrome10.1IGF1, IGF2
11hypotrichosis10.1IGF1, IGF2
12growth hormone insensitivity, partial10.1IGF1, IGF2
13fatal infantile encephalomyopathy10.0IGF1, IGF2
14osteonecrosis10.0IGF1, IGF2
15endocrine pancreas disease10.0JAG1, RET
16struma ovarii10.0IGF1, IGF2
17pseudotumor cerebri10.0
18intracranial hypertension10.0
19optic disk drusen10.0
20spindle cell hemangioma10.0IGF1, IGF2
21ptosis9.9JAG1, RET
22primary hypertrophic osteoarthropathy9.8IGF1, IGF2
23neurofibromatosis, type 29.8
24optic neuritis9.8
25neuritis9.8
26retinitis9.8
27neurofibromatosis9.8
28refractive error9.8
29growth hormone deficiency9.8
30headache9.8
31kenny-caffey syndrome9.8
32pyloric stenosis9.8IGF1, RET
33esophageal varix9.8GATA3, TBCE
34hepatic flexure cancer9.8IGF1, IGF2
35labyrinthine unilateral reactive loss9.8IL1RN, RET
36displacement of cardia through esophageal hiatus9.7IGF1, RET
37oculoglandular tularemia9.7IGF1, IGF2
38lung cancer susceptibility 29.7IGF1, IGF2
39parametritis9.7IGF2, RET
40organ system benign neoplasm9.4IGF1, RET
41spinal canal intradural extramedullary neoplasm9.3IGF1, IGF2, IL1RN, PAX6
42bacterial esophagitis7.0GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1

Graphical network of the top 20 diseases related to Pseudopapilledema:



Diseases related to pseudopapilledema

Symptoms for Pseudopapilledema

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UMLS symptoms related to Pseudopapilledema:


excessive eye blinking, ocular signs and symptoms nec, scotoma, scintillating, lid lag, photophobia, ophthalmoplegia

Drugs & Therapeutics for Pseudopapilledema

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudopapilledema

Genetic Tests for Pseudopapilledema

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Anatomical Context for Pseudopapilledema

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MalaCards organs/tissues related to Pseudopapilledema:

33
Eye, Lung, Thyroid, Pancreas, Prostate, Endothelial, T cells

Animal Models for Pseudopapilledema or affiliated genes

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MGI Mouse Phenotypes related to Pseudopapilledema:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8IGF1, OGG1, PAX6, RET
2MP:00053778.8GATA3, IGF1, JAG1, PAX6
3MP:00053808.3GATA3, IGF2, JAG1, PAX6, RET
4MP:00053888.2IGF1, IGF2, PAX6, RET, TBCE
5MP:00107718.1GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
6MP:00028738.0GATA3, IGF1, JAG1, OGG1, PAX6, RET
7MP:00053797.8GATA3, IGF1, IGF2, JAG1, PAX6, RET
8MP:00053697.7IGF1, IGF2, JAG1, PAX6, RET, TBCE
9MP:00053677.7GATA3, IGF1, IGF2, JAG1, PAX6, RET
10MP:00053907.6GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
11MP:00053897.6GATA3, IGF1, IGF2, IL1RN, PAX6, RET
12MP:00053787.0GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
13MP:00036316.9GATA3, IGF1, IGF2, JAG1, OGG1, PAX6
14MP:00053856.9GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
15MP:00053846.7GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
16MP:00053876.7GATA3, IGF1, IGF2, IL1RN, OGG1, PAX6
17MP:00053766.7GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
18MP:00053976.4GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
19MP:00107686.3GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1

Publications for Pseudopapilledema

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Articles related to Pseudopapilledema:

(show all 35)
idTitleAuthorsYear
1
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. (25874128)
2015
2
SD-OCT to distinguish papilledema from pseudopapilledema. (26148443)
2015
3
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. (25190532)
2014
4
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. (24727146)
2014
5
Pseudopapilledema and association with idiopathic intracranial hypertension. (24573961)
2014
6
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. (25579359)
2014
7
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. (21091000)
2010
8
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. (20876459)
2010
9
Pseudopapilledema in a pediatric kidney transplant recipient. (19413713)
2010
10
Pseudopapilledema in Kenny-Caffey Syndrome. (19791716)
2009
11
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. (15531344)
2004
12
Ophthaproblem. Pseudopapilledema. (12053631)
2002
13
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. (11756851)
2001
14
Pseudopapilledema in neurofibromatosis type 2. (10704571)
2000
15
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. (9642641)
1998
16
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. (9856698)
1998
17
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. (1836802)
1991
18
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. (1919455)
1991
19
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. (3340479)
1988
20
Pseudopapilledema associated with abnormally small optic discs. (3389093)
1988
21
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. (3711575)
1986
22
Pseudopapilledema and macrocephaly in a child. (3561953)
1986
23
Optic nerve drusen and pseudopapilledema. (6169281)
1981
24
Pseudopapilledema. (7352867)
1980
25
A clinical analysis of pseudopapilledema. II. Visual field defects. (83136)
1979
26
Pseudopapilledema. (88936)
1979
27
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. (83135)
1979
28
Pseudopapilledema versus papilledema. (844957)
1977
29
Pseudopapilledema. (4642152)
1972
30
Pseudopapilledema of juvenile diabetes mellitus. (5554869)
1971
31
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. (5357348)
1969
32
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. (14180782)
1964
33
Pseudopapilledema. (13978689)
1963
34
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. (14449444)
1962
35
Pseudopapilledema. (13491166)
1957

Variations for Pseudopapilledema

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Expression for genes affiliated with Pseudopapilledema

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Search GEO for disease gene expression data for Pseudopapilledema.

Pathways for genes affiliated with Pseudopapilledema

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GO Terms for genes affiliated with Pseudopapilledema

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Biological processes related to Pseudopapilledema according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:003021610.3JAG1, PAX6
2axonogenesisGO:000740910.3PAX6, TBCE
3regulation of cell migrationGO:003033410.2JAG1, PAX6
4developmental growthGO:004858910.2GATA3, TBCE
5myoblast differentiationGO:004544510.1IGF1, JAG1
6negative regulation of fat cell differentiationGO:004559910.1GATA3, JAG1
7cardiac right ventricle morphogenesisGO:000321510.1GATA3, JAG1
8cell fate commitmentGO:004516510.1GATA3, PAX6
9negative regulation of neuron differentiationGO:004566510.0JAG1, PAX6
10cell activationGO:000177510.0GATA3, IGF1
11organ morphogenesisGO:000988710.0GATA3, PAX6
12phosphatidylinositol 3-kinase signalingGO:001406510.0GATA3, IGF1
13positive regulation of glycogen biosynthetic processGO:004572510.0IGF1, IGF2
14cell fate determinationGO:00017099.9JAG1, PAX6
15positive regulation of osteoblast differentiationGO:00456699.9IGF1, JAG1
16response to nutrient levelsGO:00316679.9IGF1, IGF2
17ureter maturationGO:00357999.9GATA3, RET
18lens development in camera-type eyeGO:00020889.9GATA3, PAX6
19retina development in camera-type eyeGO:00600419.7PAX6, RET
20positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.7IGF1, IGF2
21platelet degranulationGO:00025769.6IGF1, IGF2
22female pregnancyGO:00075659.4IGF1, IGF2
23memoryGO:00076139.0IGF1, IGF2
24cellular protein metabolic processGO:00442679.0IGF1, IGF2, TBCE
25positive regulation of transcription, DNA-templatedGO:00458938.7GATA3, IGF1, PAX6, RET
26response to drugGO:00424938.6GATA3, IGF2, RET

Sources for Pseudopapilledema

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet