MCID: PSD008
MIFTS: 24

Pseudopapilledema malady

Summaries for Pseudopapilledema

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

MalaCards: Pseudopapilledema is related to papilledema and pseudopapilledema blepharophimosis hand anomalies. An important gene associated with Pseudopapilledema is JAG1 (jagged 1), and among its related pathways is Notch signaling pathway. Affiliated tissues include kidney, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Description from OMIM:46 177800

Aliases & Classifications for Pseudopapilledema

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8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

pseudopapilledema 8 10 60


External Ids:

Disease Ontology8 DOID:1392
OMIM46 177800
SNOMED-CT56 57138009
ICD9CM27 377.24

Related Diseases for Pseudopapilledema

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17GeneCards, 18GeneDecks
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Diseases related to Pseudopapilledema via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1papilledema10.3
2pseudopapilledema blepharophimosis hand anomalies10.2
3pseudotumor cerebri10.1
4neurofibromatosis9.9
5bannayan-riley-ruvalcaba syndrome9.9
6optic disk drusen9.9
7diabetes mellitus9.9
8hypertension9.9
9intracranial hypertension9.9
10neuritis9.9
11optic neuritis9.9
12refractive error9.9
13acro-oto-ocular syndrome9.9

Graphical network of diseases related to Pseudopapilledema:



Diseases related to pseudopapilledema

Clinical Features for Pseudopapilledema

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46OMIM
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Clinical features from OMIM:

177800

Drugs & Therapeutics for Pseudopapilledema

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pseudopapilledema

Drug clinical trials:

Search ClinicalTrials for Pseudopapilledema

Search NIH Clinical Center for Pseudopapilledema

Search CenterWatch for Pseudopapilledema

Genetic Tests for Pseudopapilledema

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Anatomical Context for Pseudopapilledema

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32MalaCards
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MalaCards organs/tissues related to Pseudopapilledema:

32
Kidney

Animal Models for Pseudopapilledema or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudopapilledema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1GATA3, JAG1
2MP:00053778.8GATA3, JAG1

Publications for Pseudopapilledema

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50PubMed
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Articles related to Pseudopapilledema:

(show all 29)
idTitleAuthorsYear
1
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. (21091000)
2010
2
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. (20876459)
2010
3
Pseudopapilledema in a pediatric kidney transplant recipient. (19413713)
2010
4
Pseudopapilledema in Kenny-Caffey Syndrome. (19791716)
2009
5
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. (15531344)
2004
6
Ophthaproblem. Pseudopapilledema. (12053631)
2002
7
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. (11756851)
2001
8
Pseudopapilledema in neurofibromatosis type 2. (10704571)
2000
9
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. (9642641)
1998
10
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. (9856698)
1998
11
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. (1836802)
1991
12
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. (1919455)
1991
13
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. (3340479)
1988
14
Pseudopapilledema associated with abnormally small optic discs. (3389093)
1988
15
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. (3711575)
1986
16
Pseudopapilledema and macrocephaly in a child. (3561953)
1986
17
Optic nerve drusen and pseudopapilledema. (6169281)
1981
18
Pseudopapilledema. (7352867)
1980
19
A clinical analysis of pseudopapilledema. II. Visual field defects. (83136)
1979
20
Pseudopapilledema. (88936)
1979
21
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. (83135)
1979
22
Pseudopapilledema versus papilledema. (844957)
1977
23
Pseudopapilledema. (4642152)
1972
24
Pseudopapilledema of juvenile diabetes mellitus. (5554869)
1971
25
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. (5357348)
1969
26
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. (14180782)
1964
27
Pseudopapilledema. (13978689)
1963
28
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. (14449444)
1962
29
Pseudopapilledema. (13491166)
1957

Genetic Variations for Pseudopapilledema

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Expression for genes affiliated with Pseudopapilledema

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudopapilledema

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Pathways for genes affiliated with Pseudopapilledema

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37NCBI BioSystems Database
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Pathways related to Pseudopapilledema according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GATA3, JAG1

Compounds for genes affiliated with Pseudopapilledema

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GO Terms for genes affiliated with Pseudopapilledema

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16Gene Ontology
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Biological processes related to Pseudopapilledema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cardiac right ventricle morphogenesisGO:0032159.1GATA3, JAG1
2positive regulation of transcription from RNA polymerase II promoterGO:0459449.1GATA3, JAG1
3cell fate determinationGO:0017099.0GATA3, JAG1
4negative regulation of fat cell differentiationGO:0455998.8GATA3, JAG1

Products for genes affiliated with Pseudopapilledema

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  • Antibodies
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Sources for Pseudopapilledema

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet