PedAM

Pediatric Disease Annotations & Medicines


	hemangioblastoma

Disease ID	584
Disease	hemangioblastoma
Definition	A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)
Synonym	angioblastoma capillary hemangioblastoma haemangioblastoma hemangioblastoma (morphologic abnormality) hemangioblastoma [disease/finding] hemangioblastomas
Orphanet	ORPHANET:252054
DOID	DOID:5241
UMLS	C0206734
MeSH	D018325
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0019562 \| lindau disease \| 5 C0019562 \| von hippel-lindau disease \| 5 C0019562 \| hippel-lindau disease \| 4 C0279702 \| clear cell renal cell carcinoma \| 2 C0007134 \| renal cell carcinoma \| 2 C0020255 \| hydrocephalus \| 2 C0007766 \| intracranial aneurysm \| 1 C0024437 \| macular degeneration \| 1 C0549423 \| obstructive hydrocephalus \| 1 C0031511 \| adrenal pheochromocytoma \| 1 C0025286 \| meningiomas \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0031511 \| pheochromocytoma \| 1 C0024437 \| age-related macular degeneration \| 1 C0004114 \| astrocytoma \| 1 C0003125 \| anorexia nervosa \| 1 C0024441 \| macular hole \| 1 C0007766 \| cranial aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) NDRG1 \| 10397 \| CTD_human HIF1A \| 3091 \| CTD_human VHL \| 7428 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:157) 10777 \| ARPP21 \| DISEASES 997 \| CDC34 \| DISEASES 9978 \| RBX1 \| DISEASES 5836 \| PYGL \| DISEASES 1113 \| CHGA \| DISEASES 7249 \| TSC2 \| DISEASES 7991 \| TUSC3 \| DISEASES 27294 \| DHDH \| DISEASES 2057 \| EPOR \| DISEASES 199731 \| CADM4 \| DISEASES 708 \| C1QBP \| DISEASES 5539 \| PPY \| DISEASES 1027 \| CDKN1B \| DISEASES 2026 \| ENO2 \| DISEASES 6500 \| SKP1 \| DISEASES 1044 \| CDX1 \| DISEASES 5217 \| PFN2 \| DISEASES 92 \| ACVR2A \| DISEASES 3229 \| HOXC13 \| DISEASES 3237 \| HOXD11 \| DISEASES 112399 \| EGLN3 \| DISEASES 25796 \| PGLS \| DISEASES 2056 \| EPO \| DISEASES 140628 \| GATA5 \| DISEASES 10343 \| PKDREJ \| DISEASES 2670 \| GFAP \| DISEASES 3656 \| IRAK2 \| DISEASES 7428 \| VHL \| DISEASES 8933 \| FAM127A \| DISEASES 324 \| APC \| DISEASES 29923 \| HILPDA \| DISEASES 55654 \| TMEM127 \| DISEASES 5460 \| POU5F1 \| DISEASES 84925 \| DIRC2 \| DISEASES 4069 \| LYZ \| DISEASES 7450 \| VWF \| DISEASES 1031 \| CDKN2C \| DISEASES 5976 \| UPF1 \| DISEASES 8178 \| ELL \| DISEASES 443 \| ASPA \| DISEASES 6598 \| SMARCB1 \| DISEASES 6855 \| SYP \| DISEASES 5033 \| P4HA1 \| DISEASES 2034 \| EPAS1 \| DISEASES 3791 \| KDR \| DISEASES 8626 \| TP63 \| DISEASES 6389 \| SDHA \| DISEASES 5523 \| PPP2R3A \| DISEASES 79109 \| MAPKAP1 \| DISEASES 2065 \| ERBB3 \| DISEASES 7157 \| TP53 \| DISEASES 5409 \| PNMT \| DISEASES 56006 \| SMG9 \| DISEASES 5546 \| PRCC \| DISEASES 1030 \| CDKN2B \| DISEASES 2838 \| GPR15 \| DISEASES 760 \| CA2 \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 9162 \| DGKI \| DISEASES 9669 \| EIF5B \| DISEASES 3856 \| KRT8 \| DISEASES 6862 \| T \| DISEASES 9317 \| PTER \| DISEASES 54949 \| SDHAF2 \| DISEASES 7314 \| UBB \| DISEASES 649 \| BMP1 \| DISEASES 112398 \| EGLN2 \| DISEASES 435 \| ASL \| DISEASES 27087 \| B3GAT1 \| DISEASES 344561 \| GPR148 \| DISEASES 7634 \| ZNF80 \| DISEASES 947 \| CD34 \| DISEASES 5619 \| PRM1 \| DISEASES 358 \| AQP1 \| DISEASES 55167 \| MSL2 \| DISEASES 6396 \| SEC13 \| DISEASES 4281 \| MID1 \| DISEASES 7030 \| TFE3 \| DISEASES 998 \| CDC42 \| DISEASES 65059 \| RAPH1 \| DISEASES 4233 \| MET \| DISEASES 4684 \| NCAM1 \| DISEASES 3039 \| HBA1 \| DISEASES 5021 \| OXTR \| DISEASES 84260 \| TCHP \| DISEASES 6794 \| STK11 \| DISEASES 8454 \| CUL1 \| DISEASES 3855 \| KRT7 \| DISEASES 7490 \| WT1 \| DISEASES 5915 \| RARB \| DISEASES 4221 \| MEN1 \| DISEASES 3091 \| HIF1A \| DISEASES 23462 \| HEY1 \| DISEASES 23583 \| SMUG1 \| DISEASES 7430 \| EZR \| DISEASES 23136 \| EPB41L3 \| DISEASES 2272 \| FHIT \| DISEASES 1809 \| DPYSL3 \| DISEASES 4771 \| NF2 \| DISEASES 5979 \| RET \| DISEASES 7068 \| THRB \| DISEASES 5828 \| PEX2 \| DISEASES 11186 \| RASSF1 \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 5792 \| PTPRF \| DISEASES 2157 \| F8 \| DISEASES 4311 \| MME \| DISEASES 3880 \| KRT19 \| DISEASES 2271 \| FH \| DISEASES 54583 \| EGLN1 \| DISEASES 7432 \| VIP \| DISEASES 79577 \| CDC73 \| DISEASES 6391 \| SDHC \| DISEASES 10763 \| NES \| DISEASES 2045 \| EPHA7 \| DISEASES 25950 \| RWDD3 \| DISEASES 2959 \| GTF2B \| DISEASES 5314 \| PKHD1 \| DISEASES 988 \| CDC5L \| DISEASES 3434 \| IFIT1 \| DISEASES 5728 \| PTEN \| DISEASES 7422 \| VEGFA \| DISEASES 656 \| BMP8B \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 6839 \| SUV39H1 \| DISEASES 6461 \| SHB \| DISEASES 768 \| CA9 \| DISEASES 1114 \| CHGB \| DISEASES 4897 \| NRCAM \| DISEASES 10087 \| COL4A3BP \| DISEASES 2315 \| MLANA \| DISEASES 51378 \| ANGPT4 \| DISEASES 12 \| SERPINA3 \| DISEASES 6387 \| CXCL12 \| DISEASES 64223 \| MLST8 \| DISEASES 2047 \| EPHB1 \| DISEASES 2642 \| GCGR \| DISEASES 7852 \| CXCR4 \| DISEASES 7311 \| UBA52 \| DISEASES 131578 \| LRRC15 \| DISEASES 7849 \| PAX8 \| DISEASES 5076 \| PAX2 \| DISEASES 5378 \| PMS1 \| DISEASES 1012 \| CDH13 \| DISEASES 8842 \| PROM1 \| DISEASES 6513 \| SLC2A1 \| DISEASES 8260 \| NAA10 \| DISEASES 10243 \| GPHN \| DISEASES 672 \| BRCA1 \| DISEASES 55845 \| BRK1 \| DISEASES 8453 \| CUL2 \| DISEASES 3227 \| HOXC11 \| DISEASES 391104 \| VHLL \| DISEASES 100506195 \| LARGE-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	584
Disease	hemangioblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0002617 \| Aneurysmal dilatation \| 2 HP:0006770 \| Nonpapillary renal cell carcinoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002664 \| Neoplasia \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0005584 \| Renal cell carcinoma \| 2 HP:0007868 \| ARMD \| 1 HP:0003419 \| Low back pain \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0006748 \| Adrenal pheochromocytoma \| 1 HP:0007461 \| Hemangiomatosis \| 1 HP:0003418 \| Back pain \| 1 HP:0012531 \| Pain \| 1 HP:0002039 \| Anorexia \| 1 HP:0001649 \| Tachycardia \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0000608 \| Macular degeneration \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0011508 \| Macular hole \| 1

Disease ID	584
Disease	hemangioblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0019562 \| von hippel-lindau disease C0019080 \| hemorrhage C0013363 \| dysautonomia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0019562 \| von hippel-lindau disease \| 5 C0019080 \| hemorrhage \| 2

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0206734	methotrexate	D008727	1959/5/2	hemangioblastoma	MESH:D018325	therapeutic	3359561
C0206734	vincristine	D014750	-	hemangioblastoma	MESH:D018325	therapeutic	3359561

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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