PedAM

Pediatric Disease Annotations & Medicines


	pineoblastoma

Disease ID	1187
Disease	pineoblastoma
Definition	Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. [HPO:probinson] {comment="PMID:21717450"}
Synonym	pineal gland pnet pineal gland primitive neuroectodermal neoplasm pineal gland primitive neuroectodermal tumor pineal pnet pineal primitive neuroectodermal neoplasm pineal primitive neuroectodermal tumor pinealblastoma pinealoblastoma pineoblastoma (morphologic abnormality) pineoblastoma (who grade iv) pineoblastoma, malignant pineoblastomas pnet of pineal gland pnet of the pineal gland primitive neuroectodermal neoplasm of pineal gland primitive neuroectodermal neoplasm of the pineal gland primitive neuroectodermal tumor of pineal gland primitive neuroectodermal tumor of the pineal gland
Orphanet	ORPHANET:251909
DOID	DOID:1664
UMLS	C0205898
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0035335 \| retinoblastoma \| 3 C1959589 \| cavernous angioma \| 1 C0020255 \| hydrocephalus \| 1 C0751483 \| hereditary retinoblastoma \| 1 C0854915 \| unilateral retinoblastoma \| 1 C0018916 \| angioma \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:59) 1361 \| CPB2 \| DISEASES 1113 \| CHGA \| DISEASES 4741 \| NEFM \| DISEASES 1406 \| CRX \| DISEASES 5949 \| RBP3 \| DISEASES 24145 \| PANX1 \| DISEASES 2026 \| ENO2 \| DISEASES 79923 \| NANOG \| DISEASES 4759 \| NEU2 \| DISEASES 6659 \| SOX4 \| DISEASES 2670 \| GFAP \| DISEASES 51659 \| GINS2 \| DISEASES 56112 \| PCDHGA3 \| DISEASES 5460 \| POU5F1 \| DISEASES 1031 \| CDKN2C \| DISEASES 6598 \| SMARCB1 \| DISEASES 6855 \| SYP \| DISEASES 6017 \| RLBP1 \| DISEASES 7157 \| TP53 \| DISEASES 5458 \| POU4F2 \| DISEASES 1360 \| CPB1 \| DISEASES 6271 \| S100A1 \| DISEASES 6010 \| RHO \| DISEASES 9317 \| PTER \| DISEASES 5604 \| MAP2K1 \| DISEASES 7030 \| TFE3 \| DISEASES 8289 \| ARID1A \| DISEASES 10215 \| OLIG2 \| DISEASES 283093 \| OR4C12 \| DISEASES 23405 \| DICER1 \| DISEASES 5802 \| PTPRS \| DISEASES 4133 \| MAP2 \| DISEASES 6663 \| SOX10 \| DISEASES 5475 \| PPEF1 \| DISEASES 2271 \| FH \| DISEASES 116496 \| FAM129A \| DISEASES 6004 \| RGS16 \| DISEASES 10763 \| NES \| DISEASES 94233 \| OPN4 \| DISEASES 8242 \| KDM5C \| DISEASES 171023 \| ASXL1 \| DISEASES 4878 \| NPPA \| DISEASES 10590 \| SCGN \| DISEASES 54880 \| BCOR \| DISEASES 4267 \| CD99 \| DISEASES 438 \| ASMT \| DISEASES 5991 \| RFX3 \| DISEASES 8618 \| CADPS \| DISEASES 3239 \| HOXD13 \| DISEASES 174 \| AFP \| DISEASES 116372 \| LYPD1 \| DISEASES 23532 \| PRAME \| DISEASES 6295 \| SAG \| DISEASES 151 \| ADRA2B \| DISEASES 5537 \| PPP6C \| DISEASES 146713 \| RBFOX3 \| DISEASES 23218 \| NBEAL2 \| DISEASES 79776 \| ZFHX4 \| DISEASES 10381 \| TUBB3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1187
Disease	pineoblastoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:19) HP:0004372 \| Reduced consciousness/confusion HP:0100576 \| Amaurosis fugax HP:0002516 \| Increased intracranial pressure HP:0000619 \| Impaired convergence HP:0001085 \| Papilledema HP:0003470 \| Paralysis HP:0002315 \| Headache HP:0007663 \| Reduced visual acuity HP:0001254 \| Lethargy HP:0000708 \| Behavioral abnormality HP:0000763 \| Sensory neuropathy HP:0001250 \| Seizures HP:0007045 \| Midline brain calcifications HP:0100543 \| Cognitive impairment HP:0010799 \| Pinealoma HP:0002354 \| Memory impairment HP:0002344 \| Progressive neurologic deterioration HP:0009919 \| Retinoblastoma HP:0007987 \| Progressive visual field defects
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0009919 \| Retinoblastoma \| 3 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001048 \| Cavernous angioma \| 1

Disease ID	1187
Disease	pineoblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0153690 \| osseous metastasis
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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