MCID: PSD008
MIFTS: 31

Pseudopapilledema

Categories: Eye diseases

Aliases & Classifications for Pseudopapilledema

MalaCards integrated aliases for Pseudopapilledema:

Name: Pseudopapilledema 58 12 77 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:1392
OMIM 58 177800
ICD9CM 36 377.24
MeSH 45 C562401
SNOMED-CT 69 57138009
MedGen 43 C0155300
UMLS 74 C0155300

Summaries for Pseudopapilledema

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/superpathways are Adipogenesis and Microglia Activation During Neuroinflammation: Microglia Polarization. Affiliated tissues include eye and kidney, and related phenotypes are cellular and hematopoietic system

Wikipedia : 77 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

Description from OMIM: 177800

Related Diseases for Pseudopapilledema

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 12.1
2 pseudopapilledema blepharophimosis hand anomalies 12.1
3 cowden syndrome 1 11.4
4 optic disk drusen 11.2
5 papilledema 10.7
6 intracranial hypertension 10.3
7 intracranial hypertension, idiopathic 10.2
8 salla disease 10.0
9 scheie syndrome 10.0
10 diabetes mellitus 10.0
11 optic neuritis 10.0
12 neuritis 10.0
13 macular retinal edema 10.0
14 refractive error 10.0
15 growth hormone deficiency 10.0
16 kenny-caffey syndrome 10.0
17 hypoparathyroidism 9.7 GATA3 TBCE

Graphical network of the top 20 diseases related to Pseudopapilledema:



Diseases related to Pseudopapilledema

Symptoms & Phenotypes for Pseudopapilledema

Clinical features from OMIM:

177800

MGI Mouse Phenotypes related to Pseudopapilledema:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.77 GATA3 IGF1 IL1RN JAG1 OGG1
2 hematopoietic system MP:0005397 9.72 GATA3 IGF1 IL1RN JAG1 OGG1
3 mortality/aging MP:0010768 9.63 GATA3 IGF1 IL1RN JAG1 OGG1 TBCE
4 integument MP:0010771 9.56 GATA3 IGF1 IL1RN JAG1
5 muscle MP:0005369 9.26 GATA3 IGF1 JAG1 TBCE
6 nervous system MP:0003631 9.02 GATA3 IGF1 JAG1 OGG1 TBCE

Drugs & Therapeutics for Pseudopapilledema

Search Clinical Trials , NIH Clinical Center for Pseudopapilledema

Cochrane evidence based reviews: pseudopapilledema

Genetic Tests for Pseudopapilledema

Anatomical Context for Pseudopapilledema

MalaCards organs/tissues related to Pseudopapilledema:

42
Eye, Kidney

Publications for Pseudopapilledema

Articles related to Pseudopapilledema:

(show top 50) (show all 51)
# Title Authors Year
1
Optic Nerve Head and Macular Optical Coherence Tomography Measurements in Papilledema Compared With Pseudopapilledema. ( 29474199 )
2019
2
Optical Coherence Tomography Angiography in Papilledema Compared With Pseudopapilledema. ( 30640969 )
2019
3
Papilledema or pseudopapilledema? ( 30900572 )
2019
4
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29203329 )
2018
5
Re: Chang et al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). ( 29458838 )
2018
6
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29535052 )
2018
7
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29535053 )
2018
8
Re: Chang et al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). ( 30143102 )
2018
9
Peripapillary Ovoid Hyperreflectivity in Optic Disc Edema and Pseudopapilledema. ( 29891127 )
2018
10
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. ( 28819712 )
2017
11
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. ( 29120977 )
2017
12
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. ( 28534259 )
2017
13
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. ( 28732589 )
2017
14
SD-OCT to distinguish papilledema from pseudopapilledema. ( 26148443 )
2015
15
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. ( 25874128 )
2015
16
Pseudopapilledema and association with idiopathic intracranial hypertension. ( 24573961 )
2014
17
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. ( 24727146 )
2014
18
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. ( 25190532 )
2014
19
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. ( 25579359 )
2014
20
[Pseudopapilledema--optic disc drusen]. ( 23713375 )
2013
21
Pseudopapilledema in Kenny-Caffey syndrome. ( 19791716 )
2011
22
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. ( 20876459 )
2010
23
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. ( 21091000 )
2010
24
Pseudopapilledema in a pediatric kidney transplant recipient. ( 19413713 )
2010
25
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. ( 15531344 )
2004
26
Ophthaproblem. Pseudopapilledema. ( 12053631 )
2002
27
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. ( 11756851 )
2001
28
Pseudopapilledema in neurofibromatosis type 2. ( 10704571 )
2000
29
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. ( 9642641 )
1998
30
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. ( 9856698 )
1998
31
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. ( 1919455 )
1991
32
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
33
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. ( 3340479 )
1988
34
Pseudopapilledema associated with abnormally small optic discs. ( 3389093 )
1988
35
Pseudopapilledema and macrocephaly in a child. ( 3561953 )
1986
36
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. ( 3711575 )
1986
37
Optic nerve drusen and pseudopapilledema. ( 6169281 )
1981
38
Pseudopapilledema. ( 7352867 )
1980
39
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. ( 83135 )
1979
40
A clinical analysis of pseudopapilledema. II. Visual field defects. ( 83136 )
1979
41
Pseudopapilledema. ( 88936 )
1979
42
Bilateral juxtapapillary subretinal neovascularization and pseudopapilledema in a three-year-old child. ( 24877479 )
1978
43
Pseudopapilledema versus papilledema. ( 844957 )
1977
44
Familial pseudopapilledema. ( 4752231 )
1973
45
Pseudopapilledema. ( 4642152 )
1972
46
Pseudopapilledema of juvenile diabetes mellitus. ( 5554869 )
1971
47
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. ( 5357348 )
1969
48
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. ( 14180782 )
1964
49
Pseudopapilledema. ( 13978689 )
1963
50
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. ( 14449444 )
1962

Variations for Pseudopapilledema

Expression for Pseudopapilledema

Search GEO for disease gene expression data for Pseudopapilledema.

Pathways for Pseudopapilledema

Pathways related to Pseudopapilledema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.28 GATA3 IGF1
2 10.81 IGF1 IL1RN
3 10.29 GATA3 JAG1

GO Terms for Pseudopapilledema

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.67 IGF1 IL1RN JAG1
2 response to ethanol GO:0045471 9.52 GATA3 OGG1
3 negative regulation of apoptotic process GO:0043066 9.51 IGF1 OGG1
4 positive regulation of osteoblast differentiation GO:0045669 9.48 IGF1 JAG1
5 negative regulation of fat cell differentiation GO:0045599 9.46 GATA3 JAG1
6 response to drug GO:0042493 9.43 GATA3 OGG1
7 phosphatidylinositol 3-kinase signaling GO:0014065 9.4 GATA3 IGF1
8 aortic valve morphogenesis GO:0003180 9.37 GATA3 JAG1
9 myoblast differentiation GO:0045445 9.32 IGF1 JAG1
10 cell fate determination GO:0001709 9.26 GATA3 JAG1
11 negative regulation of cell migration GO:0030336 9.25 JAG1
12 animal organ morphogenesis GO:0009887 9.24 JAG1
13 positive regulation of transcription regulatory region DNA binding GO:2000679 9.16 GATA3 IGF1
14 cardiac right ventricle morphogenesis GO:0003215 8.96 GATA3 JAG1
15 cell activation GO:0001775 8.62 GATA3 IGF1

Sources for Pseudopapilledema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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