MCID: ATY002
MIFTS: 36

Atypical Choroid Plexus Papilloma

Categories: Neuronal diseases, Rare diseases, Cancer 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
SNOMED-CT 68 128904001
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 and pseudobulbar palsy, and has symptoms including headache and vomiting. 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 brain, 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 120)
# Related Disease Score Top Affiliating Genes
1 papilloma 30.4 KRT5 KRT7 KRT8
2 pseudobulbar palsy 10.7 NOTCH3 NOTCH4
3 papilloma of choroid plexus 10.6
4 choroiditis 10.6
5 odontoma 10.6 KRT5 KRT8
6 pilomyxoid astrocytoma 10.6 SUFU SYP
7 cerebellum cancer 10.6 SUFU SYP
8 central nervous system primitive neuroectodermal neoplasm 10.5 DICER1 SYP
9 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.5 NOTCH3 NOTCH4
10 chorioretinal scar 10.5 NOTCH3 NOTCH4
11 pineal gland cancer 10.5 DICER1 SYP
12 malignant teratoma 10.4 NKX2-1 SYP
13 papillary ependymoma 10.4 KRT8 SYP
14 pineoblastoma 10.4 DICER1 SYP
15 respiratory system benign neoplasm 10.4 NKX2-1 SYP
16 carcinoid tumors, intestinal 10.3 NKX2-1 SYP
17 gastric squamous cell carcinoma 10.3 KRT5 SYP
18 cerebellar liponeurocytoma 10.3 SUFU SYP
19 extraskeletal ewing sarcoma 10.3 NKX2-1 SYP
20 binswanger's disease 10.2 APP NOTCH3 SYP
21 venous hemangioma 10.2 SOX2 SYP
22 proliferating trichilemmal cyst 10.2 KRT7 KRT8
23 endolymphatic sac tumor 10.2 KRT7 KRT8
24 embryoma 10.2 DICER1 NKX2-1 SYP
25 hidrocystoma 10.2 KRT7 KRT8
26 pulmonary blastoma 10.2 DICER1 NKX2-1 SYP
27 cutaneous adenocystic carcinoma 10.2 KRT7 KRT8
28 nasal cavity cancer 10.1 KRT7 KRT8
29 brooke-spiegler syndrome 10.1 KRT7 KRT8
30 non-functioning pancreatic endocrine tumor 10.1 SOX2 SYP
31 solid adenocarcinoma with mucin production 10.1 KRT7 NKX2-1
32 cervical clear cell adenocarcinoma 10.1 KRT5 KRT8 SYP
33 ovarian germ cell teratoma 10.1 KRT7 NKX2-1
34 sertoli-leydig cell tumor 10.1 DICER1 KRT7
35 lung acinar adenocarcinoma 10.1 KRT7 NKX2-1
36 ovarian germ cell cancer 10.1 KRT7 NKX2-1
37 kidney benign neoplasm 10.1 DICER1 KRT7
38 optic nerve neoplasm 10.1 KRT5 SYP
39 mucinous bronchioloalveolar adenocarcinoma 10.1 KRT7 NKX2-1
40 inverted transitional papilloma 10.1 KRT5 KRT7
41 balloon cell malignant melanoma 10.1 KRT5 KRT7
42 benign breast adenomyoepithelioma 10.1 KRT5 KRT7
43 malignant spiradenoma 10.0 KRT5 KRT7
44 bronchiolo-alveolar adenocarcinoma 10.0 KRT7 NKX2-1
45 testicular disease 10.0 SRY TWIST1
46 papillary serous adenocarcinoma 10.0 KRT7 NKX2-1
47 bile duct mucoepidermoid carcinoma 10.0 KRT5 KRT7
48 large cell acanthoma 10.0 KRT5 KRT7
49 mucinous tubular and spindle renal cell carcinoma 10.0 KRT7 KRT8
50 intestinal perforation 10.0 KRT7 NKX2-1

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:


headache, vomiting

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 KRT8 KRT5
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 KRT8 KRT5 KRT7
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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 DICER1 NOTCH3 KRT5 APP NKX2-1 SYP
2 growth/size/body region MP:0005378 10.1 NOTCH3 KRT5 NOTCH4 KRT8 APP NKX2-1
3 cardiovascular system MP:0005385 10.08 DICER1 NOTCH3 NOTCH4 KRT8 APP NKX2-1
4 homeostasis/metabolism MP:0005376 10.02 DICER1 NOTCH3 KRT7 NOTCH4 KRT8 APP
5 mortality/aging MP:0010768 10.02 DICER1 NOTCH3 KRT5 NOTCH4 KRT8 APP
6 embryo MP:0005380 9.98 DICER1 NOTCH3 NOTCH4 KRT8 SUFU TWIST1
7 digestive/alimentary MP:0005381 9.93 KRT5 KRT8 NKX2-1 SUFU TWIST1 SOX2
8 nervous system MP:0003631 9.81 NOTCH3 NOTCH4 APP NKX2-1 DICER1 SUFU
9 neoplasm MP:0002006 9.65 NKX2-1 DICER1 NOTCH3 SUFU SOX2
10 no phenotypic analysis MP:0003012 9.43 DICER1 KRT5 APP NKX2-1 SUFU SOX2
11 normal MP:0002873 9.23 NOTCH3 NOTCH4 APP NKX2-1 DICER1 SYP

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
Brain

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
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
6
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
7
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
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 9.36 DICER1 KRT5 KRT7 KRT8 NKX2-1 NOTCH3
2 intermediate filament GO:0005882 9.33 KRT5 KRT7 KRT8
3 keratin filament GO:0045095 9.13 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 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 APP NKX2-1 NOTCH3 SOX2 TWIST1
2 keratinization GO:0031424 9.7 KRT5 KRT7 KRT8
3 Notch signaling pathway GO:0007219 9.58 APP NOTCH3 NOTCH4
4 cornification GO:0070268 9.54 KRT5 KRT7 KRT8
5 negative regulation of cell differentiation GO:0045596 9.5 NOTCH3 NOTCH4 TWIST1
6 pituitary gland development GO:0021983 9.49 NKX2-1 SOX2
7 neuron fate commitment GO:0048663 9.48 NKX2-1 NOTCH3
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.46 APP SYP
9 positive regulation of transcription of Notch receptor target GO:0007221 9.43 NOTCH3 NOTCH4
10 negative regulation of neuron differentiation GO:0045665 9.43 APP NOTCH3 SOX2
11 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 DICER1 NKX2-1 NOTCH3 SOX2 SUFU TWIST1
12 regulation of developmental process GO:0050793 9.16 NOTCH3 NOTCH4
13 forebrain development GO:0030900 8.92 APP NKX2-1 NOTCH3 SOX2
14 regulation of transcription, DNA-templated GO:0006355 10.05 NKX2-1 NOTCH3 NOTCH4 SOX2 SRY SUFU

Sources for Atypical Choroid Plexus Papilloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
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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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