PedAM

Pediatric Disease Annotations & Medicines


	ependymoma

Disease ID	315
Disease	ependymoma
Definition	Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)
Synonym	[m]ependymoma nos [m]ependymoma nos (morphologic abnormality) ependymoma (disorder) ependymoma [disease/finding] ependymoma, no icd-o subtype ependymoma, no icd-o subtype (morphologic abnormality) ependymoma, no international classification of diseases for oncology subtype ependymoma, no international classification of diseases for oncology subtype (morphologic abnormality) ependymoma, nos ependymomas epithelial ependymoma epithelial ependymoma (morphologic abnormality) who grade ii ependymal neoplasm who grade ii ependymal tumor
Orphanet	ORPHANET:251636
DOID	DOID:4844
UMLS	C0014474
MeSH	D004806
SNOMED-CT	SNOMEDCT_US_2016_09_01:443643007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0085113 \| neurofibromatosis \| 5 C0027662 \| multiple endocrine neoplasia \| 2 C0025149 \| medulloblastoma \| 2 C0033375 \| prolactinoma \| 1 C0001430 \| adenoma \| 1 C0014553 \| absence seizures \| 1 C0700367 \| ependymoblastoma \| 1 C0205770 \| choroid plexus papilloma \| 1 C0039144 \| syringomyelia \| 1 C0030354 \| papilloma \| 1 C0027809 \| schwannoma \| 1 C0005747 \| blepharospasm \| 1 C0017636 \| glioblastoma \| 1 C0153676 \| pulmonary metastases \| 1 C0009451 \| communicating hydrocephalus \| 1 C0027858 \| neuroma \| 1 C0030421 \| paraganglioma \| 1 C0206719 \| central neurocytoma \| 1 C0025286 \| meningioma \| 1 C0025267 \| multiple endocrine neoplasia type 1 \| 1 C0796004 \| kabuki syndrome \| 1 C0032000 \| pituitary adenoma \| 1 C0020255 \| hydrocephalus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) RELA \| 5970 \| ORPHANET GDNF \| 2668 \| CTD_human EPHB2 \| 2048 \| CTD_human RAB3A \| 5864 \| CTD_human RTBDN \| 83546 \| CTD_human ZNF668 \| 79759 \| CTD_human BCL7C \| 9274 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) RELA \| 11q13.1 C11ORF95 \| 11q13.1

Disease ID	315
Disease	ependymoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0002664 \| Neoplasia \| 10 HP:0001067 \| Neurofibromas \| 5 HP:0040184 \| Oral hemorrhage \| 3 HP:0002885 \| Medulloblastoma \| 2 HP:0100568 \| Endocrine neoplasia \| 2 HP:0030066 \| Ependymoblastoma \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0012531 \| Pain \| 1 HP:0200022 \| Choroid plexus papilloma \| 1 HP:0003418 \| Back pain \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0030430 \| Pinched nerve \| 1 HP:0000643 \| Spontaneous closure of eyelid \| 1 HP:0002858 \| Mengiomia \| 1 HP:0012740 \| Papilloma \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0002121 \| Petit mal seizures \| 1 HP:0001334 \| Communicating hydrocephalus \| 1 HP:0030064 \| Neurocytoma \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0002385 \| Paraparesis \| 1

Disease ID	315
Disease	ependymoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1608408 \| malignant transformation C0700093 \| cystic astrocytoma C0038525 \| subarachnoid hemorrhage C0032285 \| pneumonia C0019080 \| hemorrhage C0002793 \| anaplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0019080 \| hemorrhage \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913500	23934769	4255	MGMT	umls:C0014474	BeFree	As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma.	0.00408156	2014	IDH1	2	208248388	C	T
rs121913500	23934769	3417	IDH1	umls:C0014474	BeFree	As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma.	0.000542884	2014	IDH1	2	208248388	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0014474	carmustine	D002330	154-93-8	ependymoma	MESH:D004806	therapeutic	4343318
C0014474	methotrexate	D008727	1959/5/2	ependymoma	MESH:D004806	therapeutic	3359561
C0014474	thalidomide	D013792	50-35-1	ependymoma	MESH:D004806	therapeutic	15694139
C0014474	vincristine	D014750	-	ependymoma	MESH:D004806	therapeutic	16609949

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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