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 Pathways in cancer and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include eye and kidney, and related phenotypes are cellular and cardiovascular 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

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 11.9
2 pseudopapilledema blepharophimosis hand anomalies 11.9
3 bannayan-riley-ruvalcaba syndrome 11.2
4 optic disk drusen 11.0
5 papilledema 10.4
6 keratopathy 10.2 IGF1 PAX6
7 shoulder impingement syndrome 10.0 JAG1 RET
8 intracranial hypertension, idiopathic 10.0
9 intracranial hypertension 10.0
10 iris disease 9.9 IGF2 PAX6
11 hereditary wilms' tumor 9.9 IGF2 PAX6
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.8 IGF2 PAX6
13 neurofibromatosis, type ii 9.8
14 scheie syndrome 9.8
15 diabetes mellitus 9.8
16 optic neuritis 9.8
17 neuritis 9.8
18 retinitis 9.8
19 macular retinal edema 9.8
20 refractive error 9.8
21 growth hormone deficiency 9.8
22 headache 9.8
23 kenny-caffey syndrome 9.8
24 renal-hepatic-pancreatic dysplasia 9.8 JAG1 RET
25 fasting hypoglycemia 9.7 IGF1 IGF2
26 acid-labile subunit deficiency 9.7 IGF1 IGF2
27 osteochondrosis 9.7 IGF1 IGF2
28 wilms tumor 5 9.7 IGF2 PAX6
29 fetal macrosomia 9.7 IGF1 IGF2
30 laron syndrome 9.6 IGF1 IGF2
31 hallermann-streiff syndrome 9.6 IGF1 IGF2
32 rubeosis iridis 9.6 IGF1 IGF2
33 endocrine pancreas disease 9.5 IGF1 IGF2
34 aniridia 1 9.4 IGF2 PAX6
35 pancreas disease 9.3 IGF1 IGF2
36 cell type benign neoplasm 9.2 IGF1 RET
37 trehalase deficiency 9.2 GATA3 JAG1 PAX6 RET

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 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
2 cardiovascular system MP:0005385 10.13 IGF1 IGF2 IL1RN JAG1 PAX6 RET
3 homeostasis/metabolism MP:0005376 10.1 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
4 mortality/aging MP:0010768 10.09 IL1RN JAG1 OGG1 PAX6 RET TBCE
5 growth/size/body region MP:0005378 10.08 GATA3 IGF1 IGF2 IL1RN JAG1 PAX6
6 hematopoietic system MP:0005397 10.05 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
7 endocrine/exocrine gland MP:0005379 10.02 GATA3 IGF1 IGF2 JAG1 PAX6 RET
8 immune system MP:0005387 10.02 IL1RN OGG1 PAX6 RET GATA3 IGF1
9 digestive/alimentary MP:0005381 9.97 JAG1 PAX6 RET GATA3 IGF2
10 nervous system MP:0003631 9.97 GATA3 IGF1 IGF2 JAG1 OGG1 PAX6
11 embryo MP:0005380 9.96 GATA3 IGF2 JAG1 PAX6 RET
12 muscle MP:0005369 9.95 GATA3 IGF1 IGF2 JAG1 PAX6 RET
13 integument MP:0010771 9.93 GATA3 IGF1 IGF2 IL1RN JAG1 PAX6
14 hearing/vestibular/ear MP:0005377 9.83 GATA3 IGF1 JAG1 PAX6
15 normal MP:0002873 9.8 GATA3 IGF1 JAG1 OGG1 PAX6 RET
16 renal/urinary system MP:0005367 9.73 GATA3 IGF1 IGF2 JAG1 PAX6 RET
17 reproductive system MP:0005389 9.63 GATA3 IGF1 IGF2 IL1RN PAX6 RET
18 respiratory system MP:0005388 9.35 IGF1 IGF2 PAX6 RET TBCE
19 skeleton MP:0005390 9.1 GATA3 IGF1 IGF2 IL1RN JAG1 PAX6

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

Publications for Pseudopapilledema

Articles related to Pseudopapilledema:

(show all 46)
# 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
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. ( 28819712 )
2017
7
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. ( 28732589 )
2017
8
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29203329 )
2017
9
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. ( 28534259 )
2017
10
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. ( 29120977 )
2017
11
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. ( 25874128 )
2015
12
SD-OCT to distinguish papilledema from pseudopapilledema. ( 26148443 )
2015
13
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. ( 25190532 )
2014
14
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. ( 25579359 )
2014
15
Pseudopapilledema and association with idiopathic intracranial hypertension. ( 24573961 )
2014
16
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. ( 24727146 )
2014
17
[Pseudopapilledema--optic disc drusen]. ( 23713375 )
2013
18
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. ( 21091000 )
2010
19
Pseudopapilledema in a pediatric kidney transplant recipient. ( 19413713 )
2010
20
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. ( 20876459 )
2010
21
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
22
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. ( 15531344 )
2004
23
Ophthaproblem. Pseudopapilledema. ( 12053631 )
2002
24
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. ( 11756851 )
2001
25
Pseudopapilledema in neurofibromatosis type 2. ( 10704571 )
2000
26
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. ( 9642641 )
1998
27
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. ( 9856698 )
1998
28
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. ( 1919455 )
1991
29
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
30
Pseudopapilledema associated with abnormally small optic discs. ( 3389093 )
1988
31
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. ( 3340479 )
1988
32
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. ( 3711575 )
1986
33
Pseudopapilledema and macrocephaly in a child. ( 3561953 )
1986
34
Optic nerve drusen and pseudopapilledema. ( 6169281 )
1981
35
Pseudopapilledema. ( 7352867 )
1980
36
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. ( 83135 )
1979
37
Pseudopapilledema. ( 88936 )
1979
38
A clinical analysis of pseudopapilledema. II. Visual field defects. ( 83136 )
1979
39
Pseudopapilledema versus papilledema. ( 844957 )
1977
40
Pseudopapilledema. ( 4642152 )
1972
41
Pseudopapilledema of juvenile diabetes mellitus. ( 5554869 )
1971
42
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. ( 5357348 )
1969
43
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. ( 14180782 )
1964
44
Pseudopapilledema. ( 13978689 )
1963
45
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. ( 14449444 )
1962
46
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

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 GATA3 IGF1 IGF2 JAG1 PAX6
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 GATA3 IGF1 PAX6 RET
3 negative regulation of apoptotic process GO:0043066 9.85 IGF1 IGF2 OGG1 RET
4 response to drug GO:0042493 9.79 GATA3 OGG1 RET
5 regulation of gene expression GO:0010468 9.77 IGF1 IGF2 PAX6
6 axon guidance GO:0007411 9.75 GATA3 PAX6 RET
7 regulation of signaling receptor activity GO:0010469 9.71 IGF1 IGF2 IL1RN JAG1
8 positive regulation of MAPK cascade GO:0043410 9.7 IGF1 IGF2 RET
9 positive regulation of osteoblast differentiation GO:0045669 9.62 IGF1 JAG1
10 positive regulation of gene expression GO:0010628 9.62 GATA3 IGF1 PAX6 RET
11 negative regulation of fat cell differentiation GO:0045599 9.61 GATA3 JAG1
12 lens development in camera-type eye GO:0002088 9.61 GATA3 PAX6
13 phosphatidylinositol 3-kinase signaling GO:0014065 9.59 GATA3 IGF1
14 positive regulation of mitotic nuclear division GO:0045840 9.57 IGF1 IGF2
15 positive regulation of activated T cell proliferation GO:0042104 9.56 IGF1 IGF2
16 myoblast differentiation GO:0045445 9.54 IGF1 JAG1
17 cell activation GO:0001775 9.49 GATA3 IGF1
18 positive regulation of insulin receptor signaling pathway GO:0046628 9.48 IGF1 IGF2
19 positive regulation of transcription regulatory region DNA binding GO:2000679 9.46 GATA3 IGF1
20 positive regulation of glycogen biosynthetic process GO:0045725 9.43 IGF1 IGF2
21 glucose homeostasis GO:0042593 9.43 IGF1 IGF2 PAX6
22 cardiac right ventricle morphogenesis GO:0003215 9.37 GATA3 JAG1
23 animal organ morphogenesis GO:0009887 9.26 GATA3 IGF2 JAG1 PAX6
24 ureter maturation GO:0035799 9.16 GATA3 RET
25 cell fate determination GO:0001709 8.8 GATA3 JAG1 PAX6

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 IGF1 IGF2 JAG1
2 insulin receptor binding GO:0005158 9.32 IGF1 IGF2
3 HMG box domain binding GO:0071837 9.16 GATA3 PAX6
4 insulin-like growth factor receptor binding GO:0005159 8.96 IGF1 IGF2
5 receptor activator activity GO:0030546 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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