MCID: PSD008
MIFTS: 34

Pseudopapilledema malady

Categories: Eye diseases

Aliases & Classifications for Pseudopapilledema

Aliases & Descriptions for Pseudopapilledema:

Name: Pseudopapilledema 12 29 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1392
ICD9CM 35 377.24
MeSH 42 C562401
SNOMED-CT 64 57138009
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 Development IGF-1 receptor signaling and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include eye and kidney, and related phenotypes are cellular and cardiovascular system

Wikipedia : 71 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... more...

Related Diseases for Pseudopapilledema

Graphical network of the top 20 diseases related to Pseudopapilledema:



Diseases related to Pseudopapilledema

Symptoms & Phenotypes for Pseudopapilledema

MGI Mouse Phenotypes related to Pseudopapilledema:

44 (show all 19)
id 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 GATA3 IGF1 IGF2 IL1RN JAG1 PAX6
3 homeostasis/metabolism MP:0005376 10.1 OGG1 PAX6 RET GATA3 IGF1 IGF2
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 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 JAG1 OGG1 PAX6 RET TBCE GATA3
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 IL1RN JAG1 PAX6 GATA3 IGF1 IGF2
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:

id Genetic test Affiliating Genes
1 Pseudopapilledema 29

Anatomical Context for Pseudopapilledema

MalaCards organs/tissues related to Pseudopapilledema:

39
Eye, Kidney

Publications for Pseudopapilledema

Articles related to Pseudopapilledema:

(show all 35)
id Title Authors Year
1
SD-OCT to distinguish papilledema from pseudopapilledema. ( 26148443 )
2015
2
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. ( 25874128 )
2015
3
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. ( 25579359 )
2014
4
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. ( 24727146 )
2014
5
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. ( 25190532 )
2014
6
Pseudopapilledema and association with idiopathic intracranial hypertension. ( 24573961 )
2014
7
Pseudopapilledema in a pediatric kidney transplant recipient. ( 19413713 )
2010
8
Use of optical coherence tomography to evaluate papilledema and pseudopapilledema. ( 21091000 )
2010
9
Pearls & Oy-sters: spontaneous venous pulsation and its role in differentiating papilledema from pseudopapilledema. ( 20876459 )
2010
10
Pseudopapilledema in Kenny-Caffey Syndrome. ( 19791716 )
2009
11
The pseudopapilledema of neonatal-onset multisystem inflammatory disease. ( 15531344 )
2004
12
Ophthaproblem. Pseudopapilledema. ( 12053631 )
2002
13
Optic disc topography in pseudopapilledema: a comparison to pseudotumor cerebri. ( 11756851 )
2001
14
Pseudopapilledema in neurofibromatosis type 2. ( 10704571 )
2000
15
Pseudopapilledema and congenital disc anomalies in growth hormone deficiency. ( 9642641 )
1998
16
Headaches, idiopathic intracranial hypertension, and pseudopapilledema. ( 9856698 )
1998
17
Accuracy of papilledema and pseudopapilledema detection: a multispecialty study. ( 1919455 )
1991
18
Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. ( 1836802 )
1991
19
Pseudopapilledema associated with abnormally small optic discs. ( 3389093 )
1988
20
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema. ( 3340479 )
1988
21
Pseudopapilledema and macrocephaly in a child. ( 3561953 )
1986
22
Pseudopapilledema secondary to optic nerve drusen: ophthalmoscopic differentiation. ( 3711575 )
1986
23
Optic nerve drusen and pseudopapilledema. ( 6169281 )
1981
24
Pseudopapilledema. ( 7352867 )
1980
25
Pseudopapilledema. ( 88936 )
1979
26
A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. ( 83135 )
1979
27
A clinical analysis of pseudopapilledema. II. Visual field defects. ( 83136 )
1979
28
Pseudopapilledema versus papilledema. ( 844957 )
1977
29
Pseudopapilledema. ( 4642152 )
1972
30
Pseudopapilledema of juvenile diabetes mellitus. ( 5554869 )
1971
31
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis. ( 5357348 )
1969
32
PSEUDOTUMOR CEREBRI. REPORT OF SIX CASES COMPARED WITH ONE CASE OF PSEUDOPAPILLEDEMA. ( 14180782 )
1964
33
Pseudopapilledema. ( 13978689 )
1963
34
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. ( 14449444 )
1962
35
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 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.81 GATA3 IGF1 PAX6 RET
2 response to drug GO:0042493 9.73 GATA3 OGG1 RET
3 axon guidance GO:0007411 9.63 GATA3 PAX6 RET
4 positive regulation of osteoblast differentiation GO:0045669 9.57 IGF1 JAG1
5 negative regulation of fat cell differentiation GO:0045599 9.55 GATA3 JAG1
6 lens development in camera-type eye GO:0002088 9.54 GATA3 PAX6
7 developmental growth GO:0048589 9.52 GATA3 TBCE
8 positive regulation of activated T cell proliferation GO:0042104 9.49 IGF1 IGF2
9 phosphatidylinositol 3-kinase signaling GO:0014065 9.48 GATA3 IGF1
10 positive regulation of mitotic nuclear division GO:0045840 9.43 IGF1 IGF2
11 myoblast differentiation GO:0045445 9.4 IGF1 JAG1
12 cell activation GO:0001775 9.37 GATA3 IGF1
13 positive regulation of glycogen biosynthetic process GO:0045725 9.32 IGF1 IGF2
14 positive regulation of transcription regulatory region DNA binding GO:2000679 9.26 GATA3 IGF1
15 cardiac right ventricle morphogenesis GO:0003215 9.16 GATA3 JAG1
16 ureter maturation GO:0035799 8.96 GATA3 RET
17 cell fate determination GO:0001709 8.8 GATA3 JAG1 PAX6

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 GATA3 IGF1 IGF2 IL1RN JAG1 OGG1
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.37 GATA3 PAX6
3 growth factor activity GO:0008083 9.33 IGF1 IGF2 JAG1
4 insulin receptor binding GO:0005158 9.26 IGF1 IGF2
5 HMG box domain binding GO:0071837 8.96 GATA3 PAX6
6 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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