Choroid Plexus Papilloma malady

NIH Rare Diseases: Choroid plexus papilloma (CPP) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or CSF). CPPs most commonly occur in children but may occur in adults. Symptoms are generally due to increased secretion of CSF by tumor cells, causing hydrocephalus and subsequent intracranial pressure. Affected individuals may experience headaches, nausea and vomiting, drowsiness, ocular or gaze palsies, optic nerve swelling (papilledema), visual disturbances, and possible blindness. Infants, especially those with a tumor in the third ventricle, can present with hydrocephalus or macrocephaly. Some cases of CPP may result from a mutation in the TP53 gene. Complete tumor removal often cures the condition and may also relieve the hydrocephalus.³⁰

MalaCards: Choroid Plexus Papilloma, also known as childhood choroid plexus papilloma, is related to choroiditis and papilloma. An important gene associated with Choroid Plexus Papilloma is ZMYND10 (zinc finger, MYND-type containing 10), and among its related pathways are Non-small cell lung cancer and Bladder cancer. The drugs podophyllin and podophyllin pwdr [va product] and the compounds progesterone and 2,4-dinitrophenol have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related mouse phenotypes are digestive/alimentary and vision/eye.

Wikipedia: A Choroid plexus papilloma (CPP) is a rare, slow-growing, histologically benign intracranial neoplasm or...⁴⁴ more...

OMIM: 260500

Aliases & Descriptions:

choroid plexus papilloma 6 30 8 33 43 childhood choroid plexus papilloma 6 43 choroid plexus papilloma, no icd-o subtype (morphologic abnormality) 6 choroid plexus papilloma nos (morphologic abnormality) 6 pediatric papilloma of choroid plexus 6

papilloma of the choroid plexus 6 papilloma of choroid plexus 30 papilloma choroid plexus 32 papilloma 43

Diseases related to choroid plexus papilloma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 422)

id	Related Disease	Score	Top Affiliating Genes
1	choroiditis	28.5	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
2	papilloma	28.5	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
3	cervical cancer	28.2	RARB, RASSF1, MUC1, IGF2, TP53, DAPK1
4	ependymoma	27.7	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
5	cervicitis	27.4	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
6	squamous cell carcinoma	27.1	VIM, RARB, RASSF1, MUC1, S100B, IGF2
7	cervical carcinoma	26.9	VIM, RARB, RASSF1, IGF2, TP53, DAPK1
8	laryngitis	26.7	VIM, RARB, RASSF1, MUC1, S100B, IGF2
9	meningioma	26.6	VIM, RASSF1, MUC1, S100B, IGF2, TP53
10	carcinoma	26.6	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
11	laryngeal carcinoma	26.2	RASSF1, MUC1, S100B, TP53, SLC2A1
12	sinusitis	26.0	VIM, MUC1, TP53, GFAP
13	endocervicitis	25.4	VIM, MUC1, TP53
14	squamous cell carcinoma of the head and neck	25.3	RARB, RASSF1, TP53, SLC2A1
15	hemangioma	25.2	MUC1, IGF2, TP53, SLC2A1
16	li-fraumeni syndrome	24.8	VIM, IGF2, TP53, SHBG
17	retinoblastoma	24.7	VIM, RARB, RASSF1, MUC1, S100B, IGF2
18	hyperparathyroidism	24.7	IGF2, TP53, SHBG, TTR, SLC2A1
19	neurofibromatosis	24.6	VIM, S100B, TP53, SMARCB1, GFAP
20	esophagitis	24.4	VIM, RARB, RASSF1, MUC1, S100B, IGF2
21	oral squamous cell carcinoma	24.4	VIM, RARB, MUC1, IGF2, TP53, DAPK1
22	polyposis	24.1	VIM, RARB, RASSF1, MUC1, TP53, DAPK1
23	endometrial adenocarcinoma	23.6	VIM, RARB, MUC1, TP53, DAPK1, SLC2A1
24	astrocytoma	22.6	VIM, RARB, RASSF1, S100B, TP53, DAPK1
25	retinitis	22.5	VIM, S100B, IGF2, TP53, GFAP, TTR
26	immunodeficiency	21.9	VIM, S100B, IGF2, TP53, SMARCB1, SHBG
27	adenocarcinoma	21.9	VIM, RARB, RASSF1, ZMYND10, MUC1, S100B
28	adenoma	21.9	VIM, RARB, RASSF1, MUC1, S100B, IGF2
29	melanoma	20.8	VIM, RARB, RASSF1, MUC1, S100B, IGF2
30	breast cancer	20.5	VIM, RARB, RASSF1, MUC1, S100B, IGF2
31	thyroiditis	20.0	VIM, RARB, RASSF1, MUC1, S100B, IGF2
32	intracranial primitive neuroectodermal tumor	13.5	RASSF1, GFAP
33	monophasic synovial sarcoma	13.4	RASSF1, MUC1
34	psammomatous meningioma	13.3	MUC1, GFAP
35	progesterone-receptor negative breast cancer	13.3	RARB, RASSF1
36	epithelioid malignant peripheral nerve sheath tumor	13.3	S100B, SMARCB1
37	myxopapillary ependymoma	13.3	S100B, GFAP
38	gliofibroma	13.3	S100B, GFAP
39	papillary ependymoma	13.3	S100B, GFAP
40	anaplastic ganglioglioma	13.2	S100B, GFAP
41	fibrous meningioma	13.2	MUC1, S100B
42	ossifying fibroma	13.2	MUC1, GFAP
43	cerebellar liponeurocytoma	13.1	TP53, GFAP
44	kidney clear cell sarcoma	13.1	S100B, IGF2
45	nasopharynx carcinoma	13.1	RASSF1, ZMYND10, TP53
46	eccrine porocarcinoma	13.1	MUC1, TP53
47	pineocytoma	13.0	S100B, GFAP
48	choroid plexus carcinoma	13.0	TP53, SMARCB1, PLS1
49	oligoastrocytoma	13.0	TP53, GFAP
50	ganglioneuroma	13.0	RASSF1, S100B, GFAP

Clinical features from OMIM: 260500

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 podophyllin, podophyllin pwdr [va product]

MalaCards organs/tissues related to choroid plexus papilloma:

²²

MGI Mouse Phenotypes related to choroid plexus papilloma:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.0	GFAP, SMARCB1, TP53, IGF2, MUC1, RARB
2	vision/eye phenotype	MP:0005391	7.1	VIM, TTR, GFAP, SMARCB1, TP53, IGF2
3	homeostasis/metabolism phenotype	MP:0005376	6.0	SLC23A1, SLC2A1, TTR, GFAP, SMARCB1, DAPK1

Articles related to choroid plexus papilloma:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	Choroid plexus papilloma with stromal deposition of a myloid and elastic material. (20462365)	DA-az-Flores L.... DA-az-Flores L.	2010	TTR
2	Choroid plexus papillomas in two siblings: case repor t. (19621295)	Okay O.... ErgA1ngAPr F.	2009	TP53
3	Methylation of RASSF1A and TRAIL pathway-related genes is frequent in childhood intracranial ependymomas and benign choroid plexus papilloma. (16616114)	Michalowski M.B.... Plantaz D.	2006	DAPK1, RARB, RASSF1
4	No evidence of hSNF5/INI1 point mutations in choroid plexus papilloma. (15175083)	Mueller W.... von Deimling A.	2004	SMARCB1
5	Immunocytochemical detection of insulin-like growth factor II (IGF-II) in choroid plexus papilloma: a possible marker for differential diagnosis. (10192701)	Kubo S.... Hasegawa H.	1999	IGF2
6	Immunohistochemical study of insulin-like growth factor II (IGF-II) and insulin-like growth factor binding protein-2 (IGFBP-2) in choroid plexus papilloma. (10406004)	Kubo S.... Hyakawa T.	1999	IGF2
7	Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. (9195154)	Zajac V.... Monaco A.P.	1997	SHBG
8	Immunohistochemical localization of the glucose transporter GLUT1 in choroid plexus papillomas. (7795732)	Kurosaki M.... Hirano H.	1995	SLC2A1
9	Choroid plexus papilloma in an infant. (8106097)	Kunishio K.... Fujita H.	1993	TTR
10	Epithelial differentiation in gliomas, meningiomas and choroid plexus papillomas. (1352072)	Cruz-SA!nchez F.F.... Palacin A.	1992	VIM, MUC1
11	Primary choroid plexus papilloma located in the suprasellar region: case report. (1383866)	Kimura M.... Sugita K.	1992	TTR
12	Immunohistochemical study for choroid plexus papillomas and ependymomas (1726244)	Kunishio K.... Taguchi K.	1991	S100B, MUC1, GFAP

Genes related to choroid plexus papilloma according to GeneCards:

(show all 17)

id	Symbol	Description	Score	GeneCards Section Context
1	ZMYND10	zinc finger, MYND-type containing 10	11.0	Publications
2	SLC23A1	solute carrier family 23 (nucleobase transporters), member 1	11.0
3	RASSF1	Ras association (RalGDS/AF-6) domain family member 1	11.0	Publications
4	SMARCB1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11.0	Publications
5	TTR	transthyretin	11.0	Publications
6	AJAP1	adherens junctions associated protein 1	11.0
7	PLS1	plastin 1	11.0
8	RARB	retinoic acid receptor, beta	11.0	Publications
9	DAPK1	death-associated protein kinase 1	11.0	Publications
10	GFAP	glial fibrillary acidic protein	11.0	Publications
11	IGF2	insulin-like growth factor 2 (somatomedin A)	11.0	Publications
12	SLC2A1	solute carrier family 2 (facilitated glucose transporter), member 1	11.0	Publications
13	MUC1	mucin 1, cell surface associated	11.0	Publications
14	S100B	S100 calcium binding protein B	11.0	Publications
15	SHBG	sex hormone-binding globulin	11.0	Publications
16	VIM	vimentin	11.0	Publications
17	TP53	tumor protein p53	11.0	Publications

Pathways related to choroid plexus papilloma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Non-small cell lung cancer20	10.2	RASSF1
2	Bladder cancer20	9.3	DAPK1, TP53, RASSF1
3	Selected targets of p5310	8.9	TP53, DAPK1, SLC2A1
4	Pathways in cancer20	8.7	RARB, RASSF1, TP53, DAPK1, SLC2A1

Compounds related to choroid plexus papilloma according to GeneDecks:

(show top 50)    (show all 81)

id	Compound	Score	Top Affiliating Genes
1	progesterone32 42 9 18 9	13.7	RARB, S100B, GFAP
2	2,4-dinitrophenol32	9.7	SLC2A1, TTR, IGF2
3	sodium bisulfite32	9.7	DAPK1, IGF2, RASSF1, RARB
4	5-methylcytosine32 18	10.5	DAPK1, TP53, RASSF1, RARB
5	o6-methylguanine32	9.5	DAPK1, TP53, RASSF1, RARB
6	megestrol acetate32	9.5	TTR, SHBG, IGF2
7	crcs32	9.3	DAPK1, TP53, MUC1, RASSF1
8	glucose32	9.3	SLC23A1, SLC2A1, IGF2, S100B
9	mucicarmine32	8.9	VIM, MUC1, S100B
10	n-(4-hydroxyphenyl)retinamide32	8.8	TP53, IGF2, RARB, VIM
11	eosin32	8.8	GFAP, S100B, MUC1, VIM
12	s 10032	8.8	GFAP, S100B, MUC1, VIM
13	reticulin32	8.8	GFAP, S100B, MUC1, VIM
14	folate32	8.7	TTR, IGF2, MUC1, RASSF1, VIM
15	creatinine32	8.7	TTR, GFAP, SHBG, S100B, MUC1
16	azathioprine32 34 9 9	11.6	VIM, RARB, RASSF1, IGF2
17	hematoxylin32	8.6	VIM, MUC1, S100B, GFAP
18	dbc-amp32	8.6	VIM, S100B, IGF2, GFAP
19	ascorbic acid32 18	9.5	SLC23A1, SLC2A1, TTR, SHBG, IGF2, S100B
20	acth32	8.4	GFAP, SHBG, IGF2, S100B, MUC1
21	cysteine32	8.4	SLC2A1, GFAP, IGF2, S100B, MUC1, RARB
22	glycogen32 18	9.4	SLC2A1, GFAP, IGF2, S100B, VIM
23	methionine32	8.4	TTR, GFAP, DAPK1, S100B, RASSF1, VIM
24	cisplatin32 34 9 9	11.2	SLC2A1, GFAP, TP53, IGF2, MUC1, RASSF1
25	chloramphenicol32 9 9	10.2	IGF2, S100B, MUC1, RARB, VIM
26	progestin32	8.2	SHBG, IGF2, MUC1, VIM
27	dopamine32 9 18 9	11.2	SLC2A1, TTR, GFAP, SHBG, S100B, RARB
28	5-aza-2deoxycytidine32	8.1	DAPK1, TP53, IGF2, ZMYND10, RASSF1, RARB
29	retinoid32	8.1	TTR, SHBG, TP53, RARB, VIM
30	genistein32 9 18 9	11.0	SLC2A1, TTR, GFAP, SHBG, RARB, VIM
31	thymidine32 18	9.0	GFAP, TP53, IGF2, S100B, MUC1, RARB
32	glutamine32	8.0	SLC2A1, TTR, GFAP, IGF2, S100B, VIM
33	retinoic acid32 42 18	10.0	TTR, GFAP, SHBG, DAPK1, IGF2, S100B
34	actinomycin d32	7.9	SLC2A1, TP53, IGF2, MUC1, RARB, VIM
35	butyrate32	7.9	SLC2A1, GFAP, TP53, IGF2, MUC1, VIM
36	estradiol32 9 18 9	10.9	GFAP, SHBG, IGF2, MUC1, RARB, VIM
37	agar32	7.7	SLC2A1, TTR, GFAP, IGF2, MUC1, RASSF1
38	cycloheximide32	7.7	VIM, RARB, IGF2, TP53, GFAP, SLC2A1
39	forskolin32 42 9 9	10.7	SLC2A1, GFAP, IGF2, S100B, MUC1, RARB
40	lactate32	7.5	SLC2A1, TTR, GFAP, SHBG, IGF2, S100B
41	tamoxifen32 34 9 9	10.4	SHBG, TP53, IGF2, MUC1, VIM
42	alanine32	7.3	SLC2A1, TTR, GFAP, SHBG, IGF2, S100B
43	adenylate32	7.3	SLC2A1, TTR, GFAP, SHBG, IGF2, S100B
44	paraffin32	7.2	SLC2A1, TTR, GFAP, TP53, IGF2, S100B
45	testosterone32 9 18 9	10.2	TTR, GFAP, SHBG, IGF2, S100B, MUC1
46	vegf32	7.2	SLC2A1, GFAP, TP53, IGF2, S100B, MUC1
47	arginine32	7.1	TTR, GFAP, SHBG, TP53, IGF2, S100B
48	dexamethasone32 42 34 9 9	10.8	SLC2A1, TTR, GFAP, SHBG, IGF2, S100B
49	serine32	6.6	SLC2A1, TTR, GFAP, DAPK1, TP53, IGF2
50	estrogen32	5.7	VIM, SLC2A1, TTR, GFAP, SHBG, DAPK1

Cellular components related to choroid plexus papilloma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:005737	6.4	VIM, TTR, GFAP, PLS1, DAPK1, TP53

Biological processes related to choroid plexus papilloma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	L-ascorbic acid metabolic process	GO:019852	9.9	SLC2A1, SLC23A1
2	cellular response to glucose starvation	GO:042149	9.5	TP53, SLC2A1
3	Bergmann glial cell differentiation	GO:060020	9.4	VIM, GFAP
4	astrocyte development	GO:014002	9.3	VIM, GFAP
5	intermediate filament organization	GO:045109	9.2	GFAP, VIM
6	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:006978	9.2	MUC1, TP53

Molecular functions related to choroid plexus papilloma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	dehydroascorbic acid transporter activity	GO:033300	9.5	SLC23A1, SLC2A1
2	structural constituent of cytoskeleton	GO:005200	9.0	VIM, PLS1, GFAP
3	identical protein binding	GO:042802	7.9	VIM, RASSF1, S100B, TP53, SLC2A1