MCID: ATY002
MIFTS: 36

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 60 15 74
Atypical Papilloma of Choroid Plexus 60
Atypical Cpp 60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3544
NCIt 51 C53686
ICD10 via Orphanet 35 C71.5
UMLS via Orphanet 75 C1266176
Orphanet 60 ORPHA251902
UMLS 74 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 KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include breast, lung 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 132)
# Related Disease Score Top Affiliating Genes
1 papilloma of choroid plexus 31.4 KCNJ13 SYP
2 papilloma 30.8 KRT5 KRT7 KRT8
3 squamous cell papilloma 10.7
4 cerebral ventricle cancer 10.3 KCNJ13 SYP
5 central nervous system primitive neuroectodermal neoplasm 10.3 DICER1 SYP
6 odontoma 10.2 KRT5 KRT8
7 pineal gland cancer 10.2 DICER1 SYP
8 male reproductive organ benign neoplasm 10.2 DICER1 SYP
9 pleuropulmonary blastoma 10.2
10 embryoma 10.2
11 pineoblastoma 10.2 DICER1 SYP
12 sarcomatoid squamous cell skin carcinoma 10.2 KRT5 KRT8
13 papillary ependymoma 10.2 KRT8 SYP
14 breast papillary carcinoma 10.2 KRT5 SYP
15 carcinoid tumors, intestinal 10.2 NKX2-1 SYP
16 respiratory system benign neoplasm 10.2 NKX2-1 SYP
17 schneiderian carcinoma 10.1 KRT5 SYP
18 extraskeletal ewing sarcoma 10.1 NKX2-1 SYP
19 norwegian scabies 10.1 NKX2-1 TWIST1
20 subependymal giant cell astrocytoma 10.1 NKX2-1 SYP
21 dicer1-related disorders 10.1
22 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 10.1
23 multinodular goiter 10.1 DICER1 NKX2-1
24 proliferating trichilemmal cyst 10.1 KRT7 KRT8
25 endolymphatic sac tumor 10.1 KRT7 KRT8
26 optic nerve neoplasm 10.1 KRT5 SYP
27 hidrocystoma 10.1 KRT7 KRT8
28 venous hemangioma 10.1 SOX2 SYP
29 cutaneous adenocystic carcinoma 10.1 KRT7 KRT8
30 adenoid squamous cell carcinoma 10.1 KRT7 KRT8
31 binswanger's disease 10.1 APP NOTCH3 SYP
32 nasal cavity cancer 10.1 KRT7 KRT8
33 kidney benign neoplasm 10.0 DICER1 KRT7
34 pulmonary blastoma 10.0 DICER1 NKX2-1 SYP
35 brooke-spiegler syndrome 10.0 KRT7 KRT8
36 non-functioning pancreatic endocrine tumor 10.0 SOX2 SYP
37 solid adenocarcinoma with mucin production 10.0 KRT7 NKX2-1
38 sertoli-leydig cell tumor 10.0 DICER1 KRT7
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 cloacogenic carcinoma 10.0 KRT5 SOX2
43 mucinous tubular and spindle renal cell carcinoma 10.0 KRT7 KRT8
44 papillary adenoma 10.0 KRT7 NKX2-1
45 papillary serous adenocarcinoma 10.0 KRT7 NKX2-1
46 inverted transitional papilloma 10.0 KRT5 KRT7
47 balloon cell malignant melanoma 10.0 KRT5 KRT7
48 intestinal perforation 10.0 KRT7 NKX2-1
49 benign breast adenomyoepithelioma 10.0 KRT5 KRT7
50 breast adenomyoepithelioma 10.0 KRT5 KRT7

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 APP DICER1 KCNJ13 KRT5 NKX2-1 NOTCH3
2 growth/size/body region MP:0005378 10.06 APP DICER1 KCNJ13 KRT5 KRT8 NKX2-1
3 mortality/aging MP:0010768 10.02 APP DICER1 KCNJ13 KRT5 KRT8 NKX2-1
4 digestive/alimentary MP:0005381 9.91 KCNJ13 KRT5 KRT8 NKX2-1 SOX2 TWIST1
5 craniofacial MP:0005382 9.85 DICER1 KCNJ13 KRT5 SOX2 TWIST1
6 normal MP:0002873 9.73 APP DICER1 NKX2-1 NOTCH3 SOX2 SYP
7 no phenotypic analysis MP:0003012 9.72 APP DICER1 KRT5 NKX2-1 SOX2
8 reproductive system MP:0005389 9.63 APP DICER1 KRT8 NKX2-1 NOTCH3 SOX2
9 respiratory system MP:0005388 9.35 DICER1 KCNJ13 NKX2-1 NOTCH3 SOX2
10 skeleton MP:0005390 9.1 DICER1 KCNJ13 NKX2-1 NOTCH3 SOX2 TWIST1

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:

42
Breast, Lung, Kidney, Ovary, Thymus, Brain, Skin

Publications for Atypical Choroid Plexus Papilloma

Articles related to Atypical Choroid Plexus Papilloma:

(show all 19)
# Title Authors Year
1
A unique presentation of an adolescent with disseminated atypical choroid plexus papilloma. ( 29770898 )
2018
2
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? ( 29943907 )
2018
3
Atypical choroid plexus papilloma: clinicopathological and neuroradiological features. ( 28358248 )
2017
4
Ultrasonic elastography exploration of the foetal brain: A case of atypical choroid plexus papilloma. ( 28421905 )
2017
5
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases. ( 28686125 )
2017
6
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
2016
7
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
8
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
9
Atypical choroid plexus papilloma treated with single agent bevacizumab. ( 24711901 )
2014
10
Atypical choroid plexus papilloma in a newborn: prenatal diagnosis, preoperative tumor embolization, and resection. ( 21830192 )
2013
11
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. ( 24303341 )
2013
12
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. ( 20564313 )
2010
13
Rapid regrowth of an atypical choroid plexus papilloma located in the cerebellopontine angle. ( 19008101 )
2009
14
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. ( 19077039 )
2009
15
Atypical choroid plexus papilloma: clinical experience in the CPT-SIOP-2000 study. ( 19543851 )
2009
16
Grade II atypical choroid plexus papilloma with normal karyotype. ( 19554332 )
2009
17
Atypical choroid plexus papilloma in an adult. ( 19707500 )
2009
18
Efficacy of multi-staged surgery and adjuvant chemotherapy for successful treatment of atypical choroid plexus papilloma in an infant: case report. ( 19855149 )
2009
19
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 11.46 APP NKX2-1 NOTCH3 SYP
2
Show member pathways
11.17 KRT5 KRT7 KRT8

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 presynaptic active zone GO:0048786 9.16 APP SYP
2 intermediate filament GO:0005882 9.13 KRT5 KRT7 KRT8
3 keratin filament GO:0045095 8.8 KRT5 KRT7 KRT8

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 APP NKX2-1 NOTCH3 SOX2 TWIST1
2 keratinization GO:0031424 9.63 KRT5 KRT7 KRT8
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 DICER1 NKX2-1 NOTCH3 SOX2 TWIST1
4 neuron fate commitment GO:0048663 9.43 NKX2-1 NOTCH3
5 cornification GO:0070268 9.43 KRT5 KRT7 KRT8
6 pituitary gland development GO:0021983 9.4 NKX2-1 SOX2
7 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 APP SYP
8 negative regulation of neuron differentiation GO:0045665 9.13 APP NOTCH3 SOX2
9 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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