MCID: ATY002
MIFTS: 40

Atypical Choroid Plexus Papilloma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Choroid Plexus Papilloma

MalaCards integrated aliases for Atypical Choroid Plexus Papilloma:

Name: Atypical Choroid Plexus Papilloma 12 59 15 73
Atypical Papilloma of Choroid Plexus 59
Atypical Cpp 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3544
NCIt 50 C53686
Orphanet 59 ORPHA251902
UMLS via Orphanet 74 C1266176
ICD10 via Orphanet 34 C71.5
UMLS 73 C1266176

Summaries for Atypical Choroid Plexus Papilloma

MalaCards based summary : Atypical Choroid Plexus Papilloma, also known as atypical papilloma of choroid plexus, is related to papilloma of choroid plexus and papilloma, and has symptoms including vomiting and headache. An important gene associated with Atypical Choroid Plexus Papilloma is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Neuroscience. Affiliated tissues include lung, skin and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Atypical Choroid Plexus Papilloma

Diseases related to Atypical Choroid Plexus Papilloma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 papilloma of choroid plexus 31.2 KCNJ13 SYP
2 papilloma 30.9 KRT5 KRT7 KRT8
3 pseudobulbar palsy 10.2 NOTCH3 NOTCH4
4 squamous cell papilloma 10.2
5 chorioretinal scar 10.2 NOTCH3 NOTCH4
6 cerebral ventricle cancer 10.2 KCNJ13 SYP
7 central nervous system primitive neuroectodermal neoplasm 10.2 DICER1 SYP
8 obstructive hydrocephalus 10.2 SUFU SYP
9 pineal gland cancer 10.2 DICER1 SYP
10 male reproductive organ benign neoplasm 10.2 DICER1 SYP
11 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.2 NOTCH3 NOTCH4
12 odontoma 10.2 KRT5 KRT8
13 pineoblastoma 10.1 DICER1 SYP
14 papillary ependymoma 10.1 KRT8 SYP
15 carcinoid tumors, intestinal 10.1 NKX2-1 SYP
16 respiratory system benign neoplasm 10.1 NKX2-1 SYP
17 breast papillary carcinoma 10.1 KRT5 SYP
18 prostate small cell carcinoma 10.1 NKX2-1 SYP
19 sarcomatoid squamous cell skin carcinoma 10.1 KRT5 KRT8
20 extraskeletal ewing sarcoma 10.1 NKX2-1 SYP
21 schneiderian carcinoma 10.1 KRT5 SYP
22 norwegian scabies 10.1 NKX2-1 TWIST1
23 binswanger's disease 10.1 APP NOTCH3 SYP
24 cerebellar liponeurocytoma 10.1 SUFU SYP
25 pleuropulmonary blastoma 10.1
26 embryoma 10.1
27 pulmonary blastoma 10.1 DICER1 NKX2-1 SYP
28 proliferating trichilemmal cyst 10.1 KRT7 KRT8
29 subependymal giant cell astrocytoma 10.1 NKX2-1 SYP
30 endolymphatic sac tumor 10.1 KRT7 KRT8
31 hidrocystoma 10.0 KRT7 KRT8
32 cutaneous adenocystic carcinoma 10.0 KRT7 KRT8
33 adenoid squamous cell carcinoma 10.0 KRT7 KRT8
34 nasal cavity cancer 10.0 KRT7 KRT8
35 venous hemangioma 10.0 SOX2 SYP
36 kidney benign neoplasm 10.0 DICER1 KRT7
37 brooke-spiegler syndrome 10.0 KRT7 KRT8
38 solid adenocarcinoma with mucin production 10.0 KRT7 NKX2-1
39 ovarian germ cell teratoma 10.0 KRT7 NKX2-1
40 lung acinar adenocarcinoma 10.0 KRT7 NKX2-1
41 ovarian germ cell cancer 10.0 KRT7 NKX2-1
42 papillary adenoma 10.0 KRT7 NKX2-1
43 papillary serous adenocarcinoma 10.0 KRT7 NKX2-1
44 intestinal perforation 10.0 KRT7 NKX2-1
45 sertoli-leydig cell tumor 10.0 DICER1 KRT7
46 mucinous tubular and spindle renal cell carcinoma 10.0 KRT7 KRT8
47 cervical clear cell adenocarcinoma 10.0 KRT5 KRT8 SYP
48 adenomatoid tumor 10.0 KRT7 NKX2-1
49 inverted transitional papilloma 10.0 KRT5 KRT7
50 non-functioning pancreatic endocrine tumor 10.0 SOX2 SYP

Graphical network of the top 20 diseases related to Atypical Choroid Plexus Papilloma:



Diseases related to Atypical Choroid Plexus Papilloma

Symptoms & Phenotypes for Atypical Choroid Plexus Papilloma

UMLS symptoms related to Atypical Choroid Plexus Papilloma:


vomiting, headache

GenomeRNAi Phenotypes related to Atypical Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.44 KRT5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.44 KRT5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.44 KRT5 KRT8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.44 KRT5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 KRT8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.44 KRT7
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.44 KRT5 KRT7 KRT8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.44 KRT7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 KRT5 KRT7

MGI Mouse Phenotypes related to Atypical Choroid Plexus Papilloma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 APP DICER1 KCNJ13 KRT5 NKX2-1 NOTCH3
2 growth/size/body region MP:0005378 10.17 APP DICER1 KCNJ13 KRT5 KRT8 NKX2-1
3 mortality/aging MP:0010768 10.14 APP DICER1 KCNJ13 KRT5 KRT8 NKX2-1
4 cardiovascular system MP:0005385 10.11 APP DICER1 KRT8 NKX2-1 NOTCH3 NOTCH4
5 digestive/alimentary MP:0005381 10.02 KCNJ13 KRT5 KRT8 NKX2-1 SOX2 SUFU
6 embryo MP:0005380 10 DICER1 KRT8 NOTCH3 NOTCH4 SOX2 SUFU
7 craniofacial MP:0005382 9.97 DICER1 KCNJ13 KRT5 SOX2 SUFU TWIST1
8 nervous system MP:0003631 9.97 APP DICER1 NKX2-1 NOTCH3 NOTCH4 SOX2
9 neoplasm MP:0002006 9.77 DICER1 NKX2-1 NOTCH3 SOX2 SUFU
10 normal MP:0002873 9.76 APP DICER1 NKX2-1 NOTCH3 NOTCH4 SOX2
11 no phenotypic analysis MP:0003012 9.73 APP DICER1 KRT5 NKX2-1 SOX2 SUFU
12 respiratory system MP:0005388 9.43 DICER1 KCNJ13 NKX2-1 NOTCH3 SOX2 SUFU
13 skeleton MP:0005390 9.17 DICER1 KCNJ13 NKX2-1 NOTCH3 SOX2 SUFU

Drugs & Therapeutics for Atypical Choroid Plexus Papilloma

Search Clinical Trials , NIH Clinical Center for Atypical Choroid Plexus Papilloma

Genetic Tests for Atypical Choroid Plexus Papilloma

Anatomical Context for Atypical Choroid Plexus Papilloma

MalaCards organs/tissues related to Atypical Choroid Plexus Papilloma:

41
Lung, Skin, Kidney, Breast, Ovary, Prostate, Thymus

Publications for Atypical Choroid Plexus Papilloma

Articles related to Atypical Choroid Plexus Papilloma:

(show all 18)
# Title Authors Year
1
A unique presentation of an adolescent with disseminated atypical choroid plexus papilloma. ( 29770898 )
2018
2
Ultrasonic elastography exploration of the foetal brain: A case of atypical choroid plexus papilloma. ( 28421905 )
2017
3
Atypical choroid plexus papilloma: clinicopathological and neuroradiological features. ( 28358248 )
2017
4
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases. ( 28686125 )
2017
5
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
2016
6
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
7
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
8
Atypical choroid plexus papilloma treated with single agent bevacizumab. ( 24711901 )
2014
9
Atypical choroid plexus papilloma in a newborn: prenatal diagnosis, preoperative tumor embolization, and resection. ( 21830192 )
2013
10
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. ( 24303341 )
2013
11
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. ( 20564313 )
2010
12
Grade II atypical choroid plexus papilloma with normal karyotype. ( 19554332 )
2009
13
Efficacy of multi-staged surgery and adjuvant chemotherapy for successful treatment of atypical choroid plexus papilloma in an infant: case report. ( 19855149 )
2009
14
Rapid regrowth of an atypical choroid plexus papilloma located in the cerebellopontine angle. ( 19008101 )
2009
15
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. ( 19077039 )
2009
16
Atypical choroid plexus papilloma: clinical experience in the CPT-SIOP-2000 study. ( 19543851 )
2009
17
Atypical choroid plexus papilloma in an adult. ( 19707500 )
2009
18
Metastatic atypical choroid plexus papilloma: a case report. ( 16955222 )
2007

Variations for Atypical Choroid Plexus Papilloma

Expression for Atypical Choroid Plexus Papilloma

Search GEO for disease gene expression data for Atypical Choroid Plexus Papilloma.

Pathways for Atypical Choroid Plexus Papilloma

Pathways related to Atypical Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.65 APP NOTCH3 NOTCH4
2 11.56 APP NKX2-1 NOTCH3 NOTCH4 SYP
3 11.52 NOTCH3 NOTCH4 SOX2 SUFU
4
Show member pathways
11.47 KRT5 KRT7 KRT8
5 11.34 NOTCH3 NOTCH4 TWIST1
6 10.8 NOTCH3 NOTCH4

GO Terms for Atypical Choroid Plexus Papilloma

Cellular components related to Atypical Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 DICER1 KRT5 KRT7 KRT8 NKX2-1 NOTCH3
2 intermediate filament GO:0005882 9.43 KRT5 KRT7 KRT8
3 nuclear transcription factor complex GO:0044798 9.16 SOX2 SRY
4 keratin filament GO:0045095 8.8 KRT5 KRT7 KRT8

Biological processes related to Atypical Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 NKX2-1 NOTCH3 NOTCH4 SOX2 SRY SUFU
2 cell differentiation GO:0030154 9.91 NOTCH3 NOTCH4 SOX2 SRY TWIST1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 APP NKX2-1 NOTCH3 SOX2 SRY TWIST1
4 Notch signaling pathway GO:0007219 9.61 APP NOTCH3 NOTCH4
5 cornification GO:0070268 9.58 KRT5 KRT7 KRT8
6 neuron fate commitment GO:0048663 9.54 NKX2-1 NOTCH3
7 pituitary gland development GO:0021983 9.52 NKX2-1 SOX2
8 negative regulation of cell differentiation GO:0045596 9.5 NOTCH3 NOTCH4 TWIST1
9 negative regulation of transcription by RNA polymerase II GO:0000122 9.5 DICER1 NKX2-1 NOTCH3 SOX2 SRY SUFU
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 APP SYP
11 positive regulation of transcription of Notch receptor target GO:0007221 9.46 NOTCH3 NOTCH4
12 negative regulation of neuron differentiation GO:0045665 9.43 APP NOTCH3 SOX2
13 regulation of developmental process GO:0050793 9.16 NOTCH3 NOTCH4
14 forebrain development GO:0030900 8.92 APP NKX2-1 NOTCH3 SOX2

Sources for Atypical Choroid Plexus Papilloma

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
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40 LOVD
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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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