MCID: PSD008
MIFTS: 37

Pseudopapilledema

Categories: Eye diseases

Aliases & Classifications for Pseudopapilledema

MalaCards integrated aliases for Pseudopapilledema:

Name: Pseudopapilledema 57 12 76 29 44 15 73

Classifications:



External Ids:

OMIM 57 177800
Disease Ontology 12 DOID:1392
ICD9CM 35 377.24
MeSH 44 C562401
SNOMED-CT 68 57138009
MedGen 42 C0155300
UMLS 73 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 Development IGF-1 receptor signaling and Pathways in cancer. Affiliated tissues include eye, kidney and pancreas, and related phenotypes are cellular and hematopoietic system

Wikipedia : 76 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

Description from OMIM: 177800

Related Diseases for Pseudopapilledema

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:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
2 hematopoietic system MP:0005397 10.04 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
3 homeostasis/metabolism MP:0005376 10.02 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
4 cardiovascular system MP:0005385 10.01 GATA3 IGF1 IGF2 IL1RN JAG1 RET
5 mortality/aging MP:0010768 10.01 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
6 immune system MP:0005387 9.93 GATA3 IGF1 IGF2 IL1RN OGG1 RET
7 endocrine/exocrine gland MP:0005379 9.91 GATA3 IGF1 IGF2 JAG1 RET
8 nervous system MP:0003631 9.87 GATA3 IGF1 IGF2 JAG1 OGG1 RET
9 muscle MP:0005369 9.85 GATA3 IGF1 IGF2 JAG1 RET TBCE
10 integument MP:0010771 9.83 GATA3 IGF1 IGF2 IL1RN JAG1
11 normal MP:0002873 9.65 GATA3 IGF1 JAG1 OGG1 RET
12 renal/urinary system MP:0005367 9.55 GATA3 IGF1 IGF2 JAG1 RET
13 reproductive system MP:0005389 9.35 GATA3 IGF1 IGF2 IL1RN RET
14 skeleton MP:0005390 9.02 GATA3 IGF1 IGF2 IL1RN JAG1

Drugs & Therapeutics for Pseudopapilledema

Search Clinical Trials , NIH Clinical Center for Pseudopapilledema

Cochrane evidence based reviews: pseudopapilledema

Genetic Tests for Pseudopapilledema

Genetic tests related to Pseudopapilledema:

# Genetic test Affiliating Genes
1 Pseudopapilledema 29

Anatomical Context for Pseudopapilledema

MalaCards organs/tissues related to Pseudopapilledema:

41
Eye, Kidney, Pancreas

Publications for Pseudopapilledema

Articles related to Pseudopapilledema:

(show all 49)
# Title Authors Year
1
Optic Nerve Head and Macular Optical Coherence Tomography Measurements in Papilledema Compared With Pseudopapilledema. ( 29474199 )
2018
2
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29535052 )
2018
3
Re: Chang etA al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). ( 29458838 )
2018
4
Peripapillary Ovoid Hyperreflectivity in Optic Disc Edema and Pseudopapilledema. ( 29891127 )
2018
5
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29535053 )
2018
6
Re: Chang et al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). ( 30143102 )
2018
7
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. ( 28819712 )
2017
8
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. ( 28732589 )
2017
9
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29203329 )
2017
10
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. ( 28534259 )
2017
11
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. ( 29120977 )
2017
12
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. ( 25874128 )
2015
13
SD-OCT to distinguish papilledema from pseudopapilledema. ( 26148443 )
2015
14
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. ( 25190532 )
2014
15
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. ( 25579359 )
2014
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
[Pseudopapilledema--optic disc drusen]. ( 23713375 )
2013
19
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. ( 21091000 )
2010
20
Pseudopapilledema in a pediatric kidney transplant recipient. ( 19413713 )
2010
21
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. ( 20876459 )
2010
22
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
23
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. ( 15531344 )
2004
24
Ophthaproblem. Pseudopapilledema. ( 12053631 )
2002
25
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. ( 11756851 )
2001
26
Pseudopapilledema in neurofibromatosis type 2. ( 10704571 )
2000
27
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. ( 9642641 )
1998
28
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. ( 9856698 )
1998
29
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. ( 1919455 )
1991
30
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
31
Pseudopapilledema associated with abnormally small optic discs. ( 3389093 )
1988
32
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. ( 3340479 )
1988
33
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. ( 3711575 )
1986
34
Pseudopapilledema and macrocephaly in a child. ( 3561953 )
1986
35
Optic nerve drusen and pseudopapilledema. ( 6169281 )
1981
36
Pseudopapilledema. ( 7352867 )
1980
37
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. ( 83135 )
1979
38
Pseudopapilledema. ( 88936 )
1979
39
A clinical analysis of pseudopapilledema. II. Visual field defects. ( 83136 )
1979
40
Bilateral juxtapapillary subretinal neovascularization and pseudopapilledema in a three-year-old child. ( 24877479 )
1978
41
Pseudopapilledema versus papilledema. ( 844957 )
1977
42
Familial pseudopapilledema. ( 4752231 )
1973
43
Pseudopapilledema. ( 4642152 )
1972
44
Pseudopapilledema of juvenile diabetes mellitus. ( 5554869 )
1971
45
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. ( 5357348 )
1969
46
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. ( 14180782 )
1964
47
Pseudopapilledema. ( 13978689 )
1963
48
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. ( 14449444 )
1962
49
Pseudopapilledema. ( 13491166 )
1957

Variations for Pseudopapilledema

Expression for Pseudopapilledema

Search GEO for disease gene expression data for Pseudopapilledema.

Pathways for Pseudopapilledema

GO Terms for Pseudopapilledema

Cellular components related to Pseudopapilledema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 IGF1 IGF2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.89 GATA3 IGF1 IGF2 JAG1
2 negative regulation of apoptotic process GO:0043066 9.83 IGF1 IL1RN OGG1 RET
3 positive regulation of gene expression GO:0010628 9.77 GATA3 IGF1 RET
4 positive regulation of protein kinase B signaling GO:0051897 9.67 GATA3 IGF2 RET
5 regulation of signaling receptor activity GO:0010469 9.62 IGF1 IGF2 IL1RN JAG1
6 positive regulation of osteoblast differentiation GO:0045669 9.58 IGF1 JAG1
7 negative regulation of fat cell differentiation GO:0045599 9.58 GATA3 JAG1
8 phosphatidylinositol 3-kinase signaling GO:0014065 9.57 GATA3 IGF1
9 positive regulation of activated T cell proliferation GO:0042104 9.56 IGF1 IGF2
10 positive regulation of mitotic nuclear division GO:0045840 9.55 IGF1 IGF2
11 aortic valve morphogenesis GO:0003180 9.54 GATA3 JAG1
12 positive regulation of MAPK cascade GO:0043410 9.54 IGF1 IGF2 RET
13 myoblast differentiation GO:0045445 9.51 IGF1 JAG1
14 cell fate determination GO:0001709 9.48 GATA3 JAG1
15 positive regulation of glycogen biosynthetic process GO:0045725 9.46 IGF1 IGF2
16 positive regulation of transcription regulatory region DNA binding GO:2000679 9.43 GATA3 IGF1
17 cardiac right ventricle morphogenesis GO:0003215 9.4 GATA3 JAG1
18 animal organ morphogenesis GO:0009887 9.33 GATA3 IGF2 JAG1
19 cell activation GO:0001775 9.26 GATA3 IGF1
20 response to drug GO:0042493 9.26 GATA3 IL1RN OGG1 RET
21 ureter maturation GO:0035799 8.62 GATA3 RET

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.16 IGF1 IGF2
2 growth factor activity GO:0008083 9.13 IGF1 IGF2 JAG1
3 insulin-like growth factor receptor binding GO:0005159 8.62 IGF1 IGF2

Sources for Pseudopapilledema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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