MCID: PSD008
MIFTS: 37

Pseudopapilledema

Categories: Eye diseases

Aliases & Classifications for Pseudopapilledema

MalaCards integrated aliases for Pseudopapilledema:

Name: Pseudopapilledema 53 12 72 28 41 14 69

Classifications:



External Ids:

OMIM 53 177800
Disease Ontology 12 DOID:1392
ICD9CM 34 377.24
MeSH 41 C562401
SNOMED-CT 64 57138009
MedGen 39 C0155300
UMLS 69 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 Development IGF-1 receptor signaling. Affiliated tissues include eye and kidney, and related phenotypes are cellular and cardiovascular system

Wikipedia : 72 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 39)
# 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 10.1 IGF1 PAX6
7 shoulder impingement syndrome 10.0 JAG1 RET
8 hereditary wilms' tumor 9.9 IGF2 PAX6
9 intracranial hypertension, idiopathic 9.9
10 intracranial hypertension 9.9
11 iris disease 9.9 IGF2 PAX6
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9 IGF2 PAX6
13 renal-hepatic-pancreatic dysplasia 9.9 JAG1 RET
14 fasting hypoglycemia 9.8 IGF1 IGF2
15 acid-labile subunit deficiency 9.8 IGF1 IGF2
16 osteochondrosis 9.8 IGF1 IGF2
17 wilms tumor 5 9.8 IGF2 PAX6
18 neurofibromatosis, type iv, of riccardi 9.8
19 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
20 scheie syndrome 9.8
21 hydrops, lactic acidosis, and sideroblastic anemia 9.8
22 diabetes mellitus 9.8
23 optic neuritis 9.8
24 neuritis 9.8
25 retinitis 9.8
26 macular retinal edema 9.8
27 refractive error 9.8
28 growth hormone deficiency 9.8
29 headache 9.8
30 kenny-caffey syndrome 9.8
31 fetal macrosomia 9.8 IGF1 IGF2
32 rubeosis iridis 9.8 IGF1 IGF2
33 hallermann-streiff syndrome 9.7 IGF1 IGF2
34 laron syndrome 9.7 IGF1 IGF2
35 meninges hemangiopericytoma 9.7 IGF1 IGF2
36 endocrine pancreas disease 9.7 IGF1 IGF2
37 aniridia 1 9.6 IGF2 PAX6
38 pancreas disease 9.6 IGF1 IGF2
39 cell type benign neoplasm 9.5 IGF1 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:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
2 cardiovascular system MP:0005385 10.12 GATA3 IGF1 IGF2 IL1RN JAG1 PAX6
3 homeostasis/metabolism MP:0005376 10.1 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
4 mortality/aging MP:0010768 10.09 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
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 OGG1 PAX6 RET GATA3 IGF1 IGF2
9 nervous system MP:0003631 9.97 OGG1 PAX6 RET TBCE GATA3 IGF1
10 digestive/alimentary MP:0005381 9.96 PAX6 RET GATA3 IGF2 JAG1
11 muscle MP:0005369 9.95 GATA3 IGF1 IGF2 JAG1 PAX6 RET
12 integument MP:0010771 9.93 IL1RN JAG1 PAX6 GATA3 IGF1 IGF2
13 hearing/vestibular/ear MP:0005377 9.83 GATA3 IGF1 JAG1 PAX6
14 normal MP:0002873 9.8 GATA3 IGF1 JAG1 OGG1 PAX6 RET
15 renal/urinary system MP:0005367 9.73 GATA3 IGF1 IGF2 JAG1 PAX6 RET
16 reproductive system MP:0005389 9.63 GATA3 IGF1 IGF2 IL1RN PAX6 RET
17 respiratory system MP:0005388 9.35 IGF1 IGF2 PAX6 RET TBCE
18 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 28

Anatomical Context for Pseudopapilledema

MalaCards organs/tissues related to Pseudopapilledema:

38
Eye, Kidney

Publications for Pseudopapilledema

Articles related to Pseudopapilledema:

(show all 40)
# Title Authors Year
1
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. ( 28534259 )
2017
2
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. ( 28732589 )
2017
3
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. ( 28819712 )
2017
4
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. ( 29120977 )
2017
5
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. ( 29203329 )
2017
6
SD-OCT to distinguish papilledema from pseudopapilledema. ( 26148443 )
2015
7
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. ( 25874128 )
2015
8
Pseudopapilledema and association with idiopathic intracranial hypertension. ( 24573961 )
2014
9
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. ( 24727146 )
2014
10
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. ( 25190532 )
2014
11
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. ( 25579359 )
2014
12
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. ( 20876459 )
2010
13
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. ( 21091000 )
2010
14
Pseudopapilledema in a pediatric kidney transplant recipient. ( 19413713 )
2010
15
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
16
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. ( 15531344 )
2004
17
Ophthaproblem. Pseudopapilledema. ( 12053631 )
2002
18
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. ( 11756851 )
2001
19
Pseudopapilledema in neurofibromatosis type 2. ( 10704571 )
2000
20
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. ( 9856698 )
1998
21
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. ( 9642641 )
1998
22
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
23
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. ( 1919455 )
1991
24
Pseudopapilledema associated with abnormally small optic discs. ( 3389093 )
1988
25
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. ( 3340479 )
1988
26
Pseudopapilledema and macrocephaly in a child. ( 3561953 )
1986
27
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. ( 3711575 )
1986
28
Optic nerve drusen and pseudopapilledema. ( 6169281 )
1981
29
Pseudopapilledema. ( 7352867 )
1980
30
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. ( 83135 )
1979
31
A clinical analysis of pseudopapilledema. II. Visual field defects. ( 83136 )
1979
32
Pseudopapilledema. ( 88936 )
1979
33
Pseudopapilledema versus papilledema. ( 844957 )
1977
34
Pseudopapilledema. ( 4642152 )
1972
35
Pseudopapilledema of juvenile diabetes mellitus. ( 5554869 )
1971
36
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. ( 5357348 )
1969
37
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. ( 14180782 )
1964
38
Pseudopapilledema. ( 13978689 )
1963
39
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. ( 14449444 )
1962
40
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 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 GATA3 IGF1 PAX6 RET
2 response to drug GO:0042493 9.75 GATA3 OGG1 RET
3 axon guidance GO:0007411 9.69 GATA3 PAX6 RET
4 regulation of receptor activity GO:0010469 9.67 IGF1 IGF2 IL1RN JAG1
5 negative regulation of neuron differentiation GO:0045665 9.59 JAG1 PAX6
6 positive regulation of osteoblast differentiation GO:0045669 9.58 IGF1 JAG1
7 negative regulation of fat cell differentiation GO:0045599 9.57 GATA3 JAG1
8 lens development in camera-type eye GO:0002088 9.56 GATA3 PAX6
9 phosphatidylinositol 3-kinase signaling GO:0014065 9.55 GATA3 IGF1
10 developmental growth GO:0048589 9.54 GATA3 TBCE
11 positive regulation of mitotic nuclear division GO:0045840 9.49 IGF1 IGF2
12 positive regulation of activated T cell proliferation GO:0042104 9.48 IGF1 IGF2
13 myoblast differentiation GO:0045445 9.46 IGF1 JAG1
14 positive regulation of gene expression GO:0010628 9.46 GATA3 IGF1 PAX6 RET
15 positive regulation of transcription regulatory region DNA binding GO:2000679 9.43 GATA3 IGF1
16 cell activation GO:0001775 9.4 GATA3 IGF1
17 positive regulation of glycogen biosynthetic process GO:0045725 9.32 IGF1 IGF2
18 cardiac right ventricle morphogenesis GO:0003215 9.26 GATA3 JAG1
19 ureter maturation GO:0035799 8.96 GATA3 RET
20 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 9.33 IGF1 IGF2 JAG1
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.32 GATA3 PAX6
3 insulin receptor binding GO:0005158 9.26 IGF1 IGF2
4 HMG box domain binding GO:0071837 8.96 GATA3 PAX6
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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