MCID: PSD008
MIFTS: 38

Pseudopapilledema malady

Category: Eye diseases

Aliases & Classifications for Pseudopapilledema

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Aliases & Descriptions for Pseudopapilledema:

Name: Pseudopapilledema 11 26 38 13 67

Classifications:



External Ids:

Disease Ontology11 DOID:1392
ICD9CM31 377.24
SNOMED-CT61 57138009
MeSH38 C562401

Summaries for Pseudopapilledema

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Wikipedia:70 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

MalaCards based summary: Pseudopapilledema is related to pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies and pseudopapilledema blepharophimosis hand anomalies, and has symptoms including ophthalmoplegia, ophthalmoplegia and photophobia. An important gene associated with Pseudopapilledema is TBCE (Tubulin Folding Cofactor E), and among its related pathways are Th2 Differentiation Pathway and EGFR Transactivation by Gastrin. Affiliated tissues include eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and embryo.

Related Diseases for Pseudopapilledema

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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:


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

Drugs & Therapeutics for Pseudopapilledema

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudopapilledema


Cochrane evidence based reviews: pseudopapilledema

Genetic Tests for Pseudopapilledema

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Genetic tests related to Pseudopapilledema:

id Genetic test Affiliating Genes
1 Pseudopapilledema26

Anatomical Context for Pseudopapilledema

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MalaCards organs/tissues related to Pseudopapilledema:

35
Eye, Kidney

Animal Models for Pseudopapilledema or affiliated genes

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MGI Mouse Phenotypes related to Pseudopapilledema:

40 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3GATA3, IGF1, JAG1, PAX6
2MP:00053808.2GATA3, IGF2, JAG1, PAX6, RET
3MP:00053888.2IGF1, IGF2, PAX6, RET, TBCE
4MP:00028738.0GATA3, IGF1, JAG1, OGG1, PAX6, RET
5MP:00053697.8IGF1, IGF2, JAG1, PAX6, RET, TBCE
6MP:00053907.7GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
7MP:00107717.7GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
8MP:00053797.7GATA3, IGF1, IGF2, JAG1, PAX6, RET
9MP:00053897.5GATA3, IGF1, IGF2, IL1RN, PAX6, RET
10MP:00053677.3GATA3, IGF1, IGF2, JAG1, PAX6, RET
11MP:00053877.0GATA3, IGF1, IGF2, IL1RN, OGG1, PAX6
12MP:00053976.9GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
13MP:00053786.8GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
14MP:00053846.7GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
15MP:00036316.6GATA3, IGF1, IGF2, JAG1, OGG1, PAX6
16MP:00053856.5GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
17MP:00053766.3GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
18MP:00107686.2GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1

Publications for Pseudopapilledema

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Articles related to Pseudopapilledema:

(show all 35)
idTitleAuthorsYear
1
SD-OCT to distinguish papilledema from pseudopapilledema. (26148443)
2015
2
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. (25874128)
2015
3
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. (25190532)
2014
4
Pseudopapilledema and association with idiopathic intracranial hypertension. (24573961)
2014
5
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. (24727146)
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
Pseudopapilledema in a pediatric kidney transplant recipient. (19413713)
2010
9
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. (20876459)
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 and macrocephaly in a child. (3561953)
1986
22
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. (3711575)
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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Cellular components related to Pseudopapilledema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.1IGF1, IGF2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1cardiac right ventricle morphogenesisGO:000321510.2GATA3, JAG1
2myoblast differentiationGO:004544510.2IGF1, JAG1
3positive regulation of transcription regulatory region DNA bindingGO:200067910.1GATA3, IGF1
4phosphatidylinositol 3-kinase signalingGO:001406510.1GATA3, IGF1
5lens development in camera-type eyeGO:000208810.1GATA3, PAX6
6developmental growthGO:004858910.1GATA3, TBCE
7ureter maturationGO:003579910.1GATA3, RET
8negative regulation of fat cell differentiationGO:004559910.0GATA3, JAG1
9cell activationGO:000177510.0GATA3, IGF1
10response to radiationGO:00093149.8IGF2, OGG1
11positive regulation of glycogen biosynthetic processGO:00457259.7IGF1, IGF2
12positive regulation of activated T cell proliferationGO:00421049.7IGF1, IGF2
13animal organ morphogenesisGO:00098879.7GATA3, JAG1, PAX6
14cell fate determinationGO:00017099.7GATA3, JAG1, PAX6
15response to nicotineGO:00350949.2IGF1, IGF2
16positive regulation of gene expressionGO:00106289.2GATA3, PAX6, RET
17nervous system developmentGO:00073999.2GATA3, JAG1, RET
18positive regulation of mitotic nuclear divisionGO:00458409.0IGF1, IGF2
19positive regulation of transcription, DNA-templatedGO:00458938.9GATA3, IGF1, PAX6, RET
20response to ethanolGO:00454718.8GATA3, IGF2, OGG1
21response to drugGO:00424937.9GATA3, IGF2, OGG1, RET

Molecular functions related to Pseudopapilledema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:00718379.9GATA3, PAX6
2insulin-like growth factor receptor bindingGO:00051599.5IGF1, IGF2
3insulin receptor bindingGO:00051589.1IGF1, IGF2
4growth factor activityGO:00080838.9IGF1, IGF2, JAG1

Sources for Pseudopapilledema

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet