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MCID: PSD008
MIFTS: 32

Pseudopapilledema

Categories: Eye diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Pseudopapilledema

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MalaCards integrated aliases for Pseudopapilledema:

Name: Pseudopapilledema 56 12 74 58 43 15 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:1392
OMIM 56 177800
ICD9CM 34 377.24
MeSH 43 C562401
SNOMED-CT 67 57138009
Orphanet 58 ORPHA519339
MedGen 41 C0155300
UMLS 71 C0155300
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Summaries for Pseudopapilledema

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MalaCards based summary : Pseudopapilledema is related to optic disk drusen and retinal degeneration. An important gene associated with Pseudopapilledema is RDH12 (Retinol Dehydrogenase 12), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, kidney and testes, and related phenotypes are nervous system and pigmentation

Wikipedia : 74 Optic disc drusen (ODD) are globules of mucoproteins and mucopolysaccharides that progressively calcify... more...

More information from OMIM: 177800
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Related Diseases for Pseudopapilledema

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 optic disk drusen 32.5 PRSS56 CRB1
2 retinal degeneration 28.2 RPE65 RDH12 GUCY2D CRB1 CEP290 AIPL1
3 retinitis pigmentosa 28.1 RPE65 RDH12 GUCY2D CRB1 CEP290 AIPL1
4 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 12.3
5 pseudopapilledema blepharophimosis hand anomalies 12.3
6 cowden syndrome 1 11.8
7 myhre syndrome 11.3
8 papilledema 10.8
9 intracranial hypertension 10.4
10 intracranial hypertension, idiopathic 10.4
11 hydrops, lactic acidosis, and sideroblastic anemia 10.2
12 optic neuritis 10.2
13 neuritis 10.2
14 headache 10.2
15 leber congenital amaurosis 14 10.2 RDH12 AIPL1
16 leber congenital amaurosis 13 10.2 RDH12 AIPL1
17 leber congenital amaurosis 15 10.2 RDH12 AIPL1
18 chorioretinal scar 10.2 RDH12 CRB1
19 leber congenital amaurosis 5 10.1 RDH12 AIPL1
20 cone-rod dystrophy 8 10.1 GUCY2D AIPL1
21 migraine with or without aura 1 10.1
22 neurofibromatosis, type iv, of riccardi 10.1
23 optic nerve hypoplasia, bilateral 10.1
24 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
25 scheie syndrome 10.1
26 optic papillitis 10.1
27 neuroretinitis 10.1
28 optic nerve disease 10.1
29 craniosynostosis 10.1
30 ischemia 10.1
31 retinitis 10.1
32 macular retinal edema 10.1
33 diabetes mellitus 10.1
34 refractive error 10.1
35 growth hormone deficiency 10.1
36 farsightedness 10.1
37 megalencephaly 10.1
38 kenny-caffey syndrome 10.1
39 cone-rod dystrophy 12 10.1 GUCY2D AIPL1
40 microphthalmia, isolated 6 10.0 PRSS56 CRB1
41 bestrophinopathy, autosomal recessive 9.9 RPE65 CRB1
42 enhanced s-cone syndrome 9.9 RPE65 AIPL1
43 leber congenital amaurosis 16 9.9 GUCY2D CRB1 AIPL1
44 scotoma 9.8 RPE65 GUCY2D
45 fundus albipunctatus 9.8 RPE65 RDH12 CRB1
46 degeneration of macula and posterior pole 9.8 RPE65 CRB1
47 retinoschisis 1, x-linked, juvenile 9.8 RPE65 CRB1 AIPL1
48 choroidal dystrophy, central areolar, 1 9.8 RPE65 GUCY2D AIPL1
49 color blindness 9.8 RPE65 GUCY2D AIPL1
50 cone-rod dystrophy 6 9.7 RPE65 GUCY2D CRB1

Graphical network of the top 20 diseases related to Pseudopapilledema:



Diseases related to Pseudopapilledema
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Symptoms & Phenotypes for Pseudopapilledema

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Clinical features from OMIM:

177800

MGI Mouse Phenotypes related to Pseudopapilledema:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 AIPL1 CEP290 CRB1 GUCY2D PRSS56 RDH12
2 pigmentation MP:0001186 9.26 ADAMTSL4 CEP290 CRB1 RPE65
3 vision/eye MP:0005391 9.23 ADAMTSL4 AIPL1 CEP290 CRB1 GUCY2D PRSS56
Sources

Drugs & Therapeutics for Pseudopapilledema

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Search Clinical Trials , NIH Clinical Center for Pseudopapilledema

Cochrane evidence based reviews: pseudopapilledema

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Genetic Tests for Pseudopapilledema

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Anatomical Context for Pseudopapilledema

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MalaCards organs/tissues related to Pseudopapilledema:

40
Eye, Kidney, Testes
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Publications for Pseudopapilledema

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Articles related to Pseudopapilledema:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Familial pseudopapilledema. 61 56
4752231 1973
2
Pseudopapilledema: anomalous elevation of optic disk. Pitafalls in diagnosis and management. 61 56
14449444 1962
3
Anterior ischemic optic neuropathy in eyes with optic disc drusen. 56
14718294 2004
4
Optic disk drusen, peripapillary choroidal neovascularization, and POEMS syndrome. 56
11812439 2002
5
A comparison of imaging techniques for diagnosing drusen of the optic nerve head. 56
10448747 1999
6
Familial anomaly simulating papilledema: a case report. 56
5933899 1966
7
Drusen of the optic disk, an irregularly dominant hereditary affection. 56
14466675 1961
8
Hyaline bodies in the optic discs: report of ten cases exemplifying importance in neurological diagnosis. 56
14830666 1951
9
[What's New in Papilloedema, Pseudotumor Cerebri and Idiopathic Intracranial Hypertension]. 61
31600818 2019
10
Usefulness of Standardized A-Scan technique in distinguishing papilledema from pseudopapilledema. 61
31154489 2019
11
Accuracy of machine learning for differentiation between optic neuropathies and pseudopapilledema. 61
31399077 2019
12
Custom Optical Coherence Tomography Parameters for Distinguishing Papilledema from Pseudopapilledema. 61
31318797 2019
13
Ultrasound-Assisted Diagnosis of Optic Neuritis in the Emergency Department: A Case Report. 61
31253461 2019
14
Role of ultrasonographic optic nerve sheath diameter in the diagnosis and follow-up of papilledema and its correlation with Frisén's severity grading. 61
31332116 2019
15
Prevalence and histopathological signatures of optic disc drusen based on microscopy of 1713 enucleated eyes. 61
31264343 2019
16
Papilledema or pseudopapilledema? 61
30900572 2019
17
Optic Nerve Head and Macular Optical Coherence Tomography Measurements in Papilledema Compared With Pseudopapilledema. 61
29474199 2019
18
Optical Coherence Tomography Angiography in Papilledema Compared With Pseudopapilledema. 61
30640969 2019
19
Diagnosis and Imaging of Optic Nerve Head Drusen. 61
31157991 2019
20
Intracranial hypertension: a current review. 61
30188410 2018
21
Peripapillary Ovoid Hyperreflectivity in Optic Disc Edema and Pseudopapilledema. 61
29891127 2018
22
Re: Chang et al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). 61
30143102 2018
23
Chiari 1 malformation with optic disc drusen. 61
30042799 2018
24
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29535052 2018
25
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29535053 2018
26
Re: Chang et al.: Accuracy of diagnostic imaging modalities for classifying pediatric eyes as papilledema versus pseudopapilledema (Ophthalmology. 2017;124:1839-1848). 61
29458838 2018
27
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29203329 2018
28
Comparison of Ocular Ultrasonography and Magnetic Resonance Imaging for Detection of Increased Intracranial Pressure. 61
29740393 2018
29
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. 61
28732589 2017
30
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. 61
29120977 2017
31
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. 61
28534259 2017
32
Pediatric Pseudotumor Cerebri Syndrome. 61
28806347 2017
33
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. 61
28819712 2017
34
The diagnostic challenge of evaluating papilledema in the pediatric patient. 61
29018749 2017
35
Use of MultiColor imaging in the assessment of suspected papilledema in 20 consecutive children. 61
27816749 2016
36
Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension. 61
26269534 2016
37
Optical Coherence Tomography for the Neurologist. 61
26444402 2015
38
SD-OCT to distinguish papilledema from pseudopapilledema. 61
26148443 2015
39
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review. 61
26297663 2015
40
Outcome of pediatric patients referred for papilledema. 61
26235795 2015
41
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. 61
25874128 2015
42
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. 61
25579359 2014
43
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. 61
25190532 2014
44
Optical coherence tomography in papilledema: what am I missing? 61
25133965 2014
45
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. 61
24727146 2014
46
Pseudopapilledema and association with idiopathic intracranial hypertension. 61
24573961 2014
47
Proteus syndrome: report of a case with developmental glaucoma. 61
24882963 2014
48
Retinal vessel diameter assessment in papilledema by semi-automated analysis of SLO images: feasibility and reliability. 61
24609623 2014
49
Using autofluorescence to detect optic nerve head drusen in children. 61
24210347 2013
50
[Pseudopapilledema--optic disc drusen]. 61
23713375 2013
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Variations for Pseudopapilledema

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Expression for Pseudopapilledema

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Search GEO for disease gene expression data for Pseudopapilledema.
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Pathways for Pseudopapilledema

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Pathways related to Pseudopapilledema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of fat-soluble vitamins 65
Show member pathways
 11.66 RPE65 RDH12 GUCY2D
2
Phototransduction 36
Show member pathways
 11.32 RPE65 RDH12 GUCY2D
3
the visual cycle I (vertebrates) 1
Show member pathways
 11.06 RPE65 RDH12
4
Vitamin A and Carotenoid Metabolism 1
10.9 RPE65 RDH12
5
Visual Cycle in Retinal Rods 63
10.77 RPE65 RDH12 GUCY2D
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GO Terms for Pseudopapilledema

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 8.8 RDH12 CRB1 AIPL1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 RPE65 RDH12 GUCY2D AIPL1
2 camera-type eye development GO:0043010 9.43 RPE65 PRSS56
3 retinoid metabolic process GO:0001523 9.4 RPE65 RDH12
4 retinol metabolic process GO:0042572 9.37 RPE65 RDH12
5 retina homeostasis GO:0001895 9.32 RPE65 AIPL1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
7 eye photoreceptor cell development GO:0042462 8.96 CRB1 CEP290
8 visual perception GO:0007601 8.92 RPE65 RDH12 GUCY2D AIPL1
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Sources for Pseudopapilledema

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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