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MCID: PSD008
MIFTS: 33

Pseudopapilledema

Categories: Eye diseases, Neuronal 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 Neuronal 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 nerve hypoplasia, bilateral and retinitis. An important gene associated with Pseudopapilledema is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1), 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 95)
# Related Disease Score Top Affiliating Genes
1 optic nerve hypoplasia, bilateral 29.6 RPE65 CRB1
2 retinitis 29.6 RPE65 RDH12 CRB1
3 retinal degeneration 28.2 RPE65 RDH12 GUCY2D CRB1 CEP290 AIPL1
4 retinitis pigmentosa 27.8 RPE65 RDH12 PRSS56 GUCY2D CRB1 CEP290
5 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 12.3
6 pseudopapilledema blepharophimosis hand anomalies 12.3
7 cowden syndrome 1 11.8
8 optic disk drusen 11.6
9 myhre syndrome 11.3
10 papilledema 10.9
11 intracranial hypertension 10.5
12 intracranial hypertension, idiopathic 10.4
13 leber congenital amaurosis 14 10.2 RDH12 AIPL1
14 solar retinopathy 10.2 RDH12 CRB1
15 leber congenital amaurosis 13 10.2 RDH12 AIPL1
16 leber congenital amaurosis 5 10.2 RDH12 AIPL1
17 cone-rod dystrophy 17 10.2 GUCY2D AIPL1
18 chorioretinal scar 10.2 RDH12 CRB1
19 optic neuritis 10.2
20 neuritis 10.2
21 leber congenital amaurosis 15 10.2 RDH12 AIPL1
22 cone-rod dystrophy 8 10.2 GUCY2D AIPL1
23 partial central choroid dystrophy 10.2 GUCY2D AIPL1
24 hereditary choroidal atrophy 10.2 GUCY2D AIPL1
25 cone-rod dystrophy 12 10.2 GUCY2D AIPL1
26 microphthalmia, isolated 6 10.1 PRSS56 CRB1
27 achromatopsia 3 10.1 GUCY2D CRB1
28 migraine with or without aura 1 10.1
29 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
30 scheie syndrome 10.1
31 optic papillitis 10.1
32 neuroretinitis 10.1
33 optic nerve disease 10.1
34 craniosynostosis 10.1
35 ischemia 10.1
36 macular retinal edema 10.1
37 neurofibromatosis 10.1
38 diabetes mellitus 10.1
39 refractive error 10.1
40 growth hormone deficiency 10.1
41 farsightedness 10.1
42 headache 10.1
43 megalencephaly 10.1
44 kenny-caffey syndrome 10.1
45 leber congenital amaurosis 11 10.0 RDH12 GUCY2D AIPL1
46 leber congenital amaurosis 16 10.0 GUCY2D CRB1 AIPL1
47 enophthalmos 9.8 PRSS56 GUCY2D CEP290
48 leber congenital amaurosis 7 9.8 RDH12 GUCY2D CRB1 AIPL1
49 pigmented paravenous chorioretinal atrophy 9.8 RDH12 GUCY2D CRB1 AIPL1
50 enhanced s-cone syndrome 9.8 RPE65 AIPL1

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
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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 127)
# 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
Update in Pediatric Pseudotumor Cerebri Syndrome. 61
32422670 2020
10
Imaging Methods for Differentiating Pediatric Papilledema from Pseudopapilledema: A Report by the American Academy of Ophthalmology. 61
32386809 2020
11
Coexistence of papilledema and pseudopapilledema after remission of idiopathic intracranial hypertension by bariatric surgery. 61
32159598 2020
12
Prevalence and histopathological signatures of optic disc drusen based on microscopy of 1713 enucleated eyes. 61
31264343 2020
13
[What's New in Papilloedema, Pseudotumor Cerebri and Idiopathic Intracranial Hypertension]. 61
31600818 2019
14
Usefulness of Standardized A-Scan technique in distinguishing papilledema from pseudopapilledema. 61
31154489 2019
15
Accuracy of machine learning for differentiation between optic neuropathies and pseudopapilledema. 61
31399077 2019
16
Custom Optical Coherence Tomography Parameters for Distinguishing Papilledema from Pseudopapilledema. 61
31318797 2019
17
Ultrasound-Assisted Diagnosis of Optic Neuritis in the Emergency Department: A Case Report. 61
31253461 2019
18
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
19
Papilledema or pseudopapilledema? 61
30900572 2019
20
Optic Nerve Head and Macular Optical Coherence Tomography Measurements in Papilledema Compared With Pseudopapilledema. 61
29474199 2019
21
Optical Coherence Tomography Angiography in Papilledema Compared With Pseudopapilledema. 61
30640969 2019
22
Diagnosis and Imaging of Optic Nerve Head Drusen. 61
31157991 2019
23
Intracranial hypertension: a current review. 61
30188410 2018
24
Peripapillary Ovoid Hyperreflectivity in Optic Disc Edema and Pseudopapilledema. 61
29891127 2018
25
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
26
Chiari 1 malformation with optic disc drusen. 61
30042799 2018
27
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29535053 2018
28
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29535052 2018
29
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
30
Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema. 61
29203329 2018
31
Comparison of Ocular Ultrasonography and Magnetic Resonance Imaging for Detection of Increased Intracranial Pressure. 61
29740393 2018
32
Use of A-scan Ultrasound and Optical Coherence Tomography to Differentiate Papilledema From Pseudopapilledema. 61
29120977 2017
33
Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. 61
28732589 2017
34
The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema. 61
28534259 2017
35
Pediatric Pseudotumor Cerebri Syndrome. 61
28806347 2017
36
Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema. 61
28819712 2017
37
The diagnostic challenge of evaluating papilledema in the pediatric patient. 61
29018749 2017
38
Use of MultiColor imaging in the assessment of suspected papilledema in 20 consecutive children. 61
27816749 2016
39
Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension. 61
26269534 2016
40
Optical Coherence Tomography for the Neurologist. 61
26444402 2015
41
SD-OCT to distinguish papilledema from pseudopapilledema. 61
26148443 2015
42
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
43
Outcome of pediatric patients referred for papilledema. 61
26235795 2015
44
Optic nerve sonography in the diagnostic evaluation of pseudopapilledema and raised intracranial pressure: a cross-sectional study. 61
25874128 2015
45
The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema. 61
25190532 2014
46
Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. 61
25579359 2014
47
Optical coherence tomography in papilledema: what am I missing? 61
25133965 2014
48
Quantification of peripapillary total retinal volume in pseudopapilledema and mild papilledema using spectral-domain optical coherence tomography. 61
24727146 2014
49
Pseudopapilledema and association with idiopathic intracranial hypertension. 61
24573961 2014
50
Proteus syndrome: report of a case with developmental glaucoma. 61
24882963 2014
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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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.62 RPE65 RDH12 GUCY2D AIPL1
2 retina development in camera-type eye GO:0060041 9.51 RPE65 CRB1
3 camera-type eye development GO:0043010 9.49 RPE65 PRSS56
4 retinoid metabolic process GO:0001523 9.48 RPE65 RDH12
5 retinol metabolic process GO:0042572 9.46 RPE65 RDH12
6 retina homeostasis GO:0001895 9.43 RPE65 AIPL1
7 photoreceptor cell maintenance GO:0045494 9.4 RDH12 CRB1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCY2D AIPL1
9 detection of light stimulus involved in visual perception GO:0050908 9.26 RPE65 CRB1
10 eye photoreceptor cell development GO:0042462 9.16 CRB1 CEP290
11 visual perception GO:0007601 9.02 RPE65 RDH12 GUCY2D CRB1 AIPL1
12 retina morphogenesis in camera-type eye GO:0060042 8.96 RPE65 CRB1
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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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