MCID: PSD008
MIFTS: 23

Pseudopapilledema malady

Summaries for Pseudopapilledema

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

MalaCards: Pseudopapilledema is related to pseudopapilledema blepharophimosis hand anomalies and pseudotumor cerebri. 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:47 177800

Aliases & Classifications for Pseudopapilledema

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 47OMIM, 57SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

pseudopapilledema 8 10 61


External Ids:

Disease Ontology8 DOID:1392
OMIM47 177800
SNOMED-CT57 57138009
ICD9CM27 377.24

Related Diseases for Pseudopapilledema

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

idRelated DiseaseScoreTop Affiliating Genes
1pseudopapilledema blepharophimosis hand anomalies10.2
2pseudotumor cerebri10.1
3neurofibromatosis10.0
4bannayan-riley-ruvalcaba syndrome10.0
5optic disk drusen10.0
6growth hormone deficiency10.0
7headache10.0
8acro-oto-ocular syndrome10.0

Graphical network of diseases related to Pseudopapilledema:



Diseases related to pseudopapilledema

Clinical Features for Pseudopapilledema

Sources:
47OMIM
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Clinical features from OMIM:

177800

Drugs & Therapeutics for Pseudopapilledema

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Pseudopapilledema

Sources:
33MalaCards
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MalaCards organs/tissues related to Pseudopapilledema:

33
Kidney

Animal Models for Pseudopapilledema or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pseudopapilledema:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1GATA3, JAG1
2MP:00053778.8GATA3, JAG1

Publications for Pseudopapilledema

Sources:
51PubMed
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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

Expression for genes affiliated with Pseudopapilledema

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

Search GEO for disease gene expression data for Pseudopapilledema.

Pathways for genes affiliated with Pseudopapilledema

Sources:
38NCBI 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

GO Terms for genes affiliated with Pseudopapilledema

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudopapilledema

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet