MCID: PSD008
MIFTS: 34

Pseudopapilledema malady

Category: Eye diseases

Aliases & Classifications for Pseudopapilledema

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Aliases & Descriptions for Pseudopapilledema:

Name: Pseudopapilledema 11 27 39 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:1392
ICD9CM32 377.24
SNOMED-CT62 57138009
MeSH39 C562401

Summaries for Pseudopapilledema

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Wikipedia:71 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. 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 & Phenotypes for Pseudopapilledema

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MGI Mouse Phenotypes related to Pseudopapilledema according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2GATA3, IGF1, JAG1, PAX6
2MP:00053808.3GATA3, IGF2, JAG1, PAX6, RET
3MP:00028738.0GATA3, IGF1, JAG1, OGG1, PAX6, RET
4MP:00053888.0IGF1, IGF2, PAX6, RET, TBCE
5MP:00053817.9GATA3, IGF2, JAG1, PAX6, RET
6MP:00053907.7GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
7MP:00053677.6GATA3, IGF1, IGF2, JAG1, PAX6, RET
8MP:00053897.6GATA3, IGF1, IGF2, IL1RN, PAX6, RET
9MP:00107717.3GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
10MP:00053797.3GATA3, IGF1, IGF2, JAG1, PAX6, RET
11MP:00053697.2GATA3, IGF1, IGF2, JAG1, PAX6, RET
12MP:00053787.0GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
13MP:00053877.0GATA3, IGF1, IGF2, IL1RN, OGG1, PAX6
14MP:00053857.0GATA3, IGF1, IGF2, IL1RN, JAG1, PAX6
15MP:00053766.7GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
16MP:00053846.7GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
17MP:00036316.6GATA3, IGF1, IGF2, JAG1, OGG1, PAX6
18MP:00053976.4GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1
19MP:00107686.3GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1

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 Pseudopapilledema27

Anatomical Context for Pseudopapilledema

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MalaCards organs/tissues related to Pseudopapilledema:

36
Eye, Kidney

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
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. (25579359)
2014
4
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. (24727146)
2014
5
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. (25190532)
2014
6
Pseudopapilledema and association with idiopathic intracranial hypertension. (24573961)
2014
7
Pseudopapilledema in a pediatric kidney transplant recipient. (19413713)
2010
8
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. (21091000)
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
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. (1919455)
1991
18
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. (1836802)
1991
19
Pseudopapilledema associated with abnormally small optic discs. (3389093)
1988
20
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. (3340479)
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
Pseudopapilledema. (88936)
1979
26
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. (83135)
1979
27
A clinical analysis of pseudopapilledema. II. Visual field defects. (83136)
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 17)
idNameGO IDScoreTop Affiliating Genes
1developmental growthGO:004858910.4GATA3, TBCE
2lens development in camera-type eyeGO:000208810.4GATA3, PAX6
3cardiac right ventricle morphogenesisGO:000321510.4GATA3, JAG1
4negative regulation of fat cell differentiationGO:004559910.4GATA3, JAG1
5myoblast differentiationGO:004544510.3IGF1, JAG1
6positive regulation of osteoblast differentiationGO:004566910.3IGF1, JAG1
7cell activationGO:000177510.2GATA3, IGF1
8phosphatidylinositol 3-kinase signalingGO:001406510.2GATA3, IGF1
9positive regulation of transcription regulatory region DNA bindingGO:200067910.2GATA3, IGF1
10cell fate determinationGO:000170910.0GATA3, JAG1, PAX6
11positive regulation of activated T cell proliferationGO:00421049.8IGF1, IGF2
12positive regulation of glycogen biosynthetic processGO:00457259.8IGF1, IGF2
13positive regulation of mitotic nuclear divisionGO:00458409.8IGF1, IGF2
14axon guidanceGO:00074119.8GATA3, PAX6, RET
15ureter maturationGO:00357999.4GATA3, RET
16positive regulation of transcription, DNA-templatedGO:00458939.2GATA3, IGF1, PAX6, RET
17response to drugGO:00424939.1GATA3, OGG1, RET

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

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:007183710.5GATA3, PAX6
2insulin receptor bindingGO:000515810.0IGF1, IGF2
3insulin-like growth factor receptor bindingGO:000515910.0IGF1, IGF2
4RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.7GATA3, PAX6
5growth factor activityGO:00080839.6IGF1, IGF2, JAG1
6protein bindingGO:00055156.6GATA3, IGF1, IGF2, IL1RN, JAG1, OGG1

Sources for Pseudopapilledema

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet