eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	hemangioblastoma

Disease ID	1168
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:22) C0019562 \| von hippel-lindau disease \| 15 C0019562 \| lindau disease \| 11 C0019562 \| hippel-lindau disease \| 10 C0020255 \| hydrocephalus \| 2 C0279702 \| clear cell renal cell carcinoma \| 2 C0019562 \| von hippel-lindau syndrome \| 2 C0007134 \| renal cell carcinoma \| 2 C0025286 \| meningiomas \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0019562 \| von hippel lindau syndrome \| 1 C0024437 \| age-related macular degeneration \| 1 C0024437 \| macular degeneration \| 1 C0007766 \| intracranial aneurysm \| 1 C0024441 \| macular hole \| 1 C0031511 \| adrenal pheochromocytoma \| 1 C0007766 \| intracranial aneurysms \| 1 C0549423 \| obstructive hydrocephalus \| 1 C0004114 \| astrocytoma \| 1 C0003125 \| anorexia nervosa \| 1 C0007766 \| cranial aneurysm \| 1 C0031511 \| pheochromocytoma \| 1 C0030421 \| paraganglioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 10397 \| NDRG1 \| CTD_human 3091 \| HIF1A \| CTD_human 7428 \| VHL \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:74) 51378 \| ANGPT4 \| 1.799 \| DISEASES 656 \| BMP8B \| 1.359 \| DISEASES 672 \| BRCA1 \| 1.782 \| DISEASES 55845 \| BRK1 \| 4.12 \| DISEASES 768 \| CA9 \| 3.178 \| DISEASES 988 \| CDC5L \| 1.68 \| DISEASES 79577 \| CDC73 \| 2.529 \| DISEASES 1012 \| CDH13 \| 1.441 \| DISEASES 1114 \| CHGB \| 1.457 \| DISEASES 10087 \| COL4A3BP \| 1.889 \| DISEASES 8454 \| CUL1 \| 1.182 \| DISEASES 8453 \| CUL2 \| 4.466 \| DISEASES 6387 \| CXCL12 \| 1.432 \| DISEASES 7852 \| CXCR4 \| 1.912 \| DISEASES 1809 \| DPYSL3 \| 1.311 \| DISEASES 54583 \| EGLN1 \| 2.839 \| DISEASES 23136 \| EPB41L3 \| 1.045 \| DISEASES 2045 \| EPHA7 \| 1.266 \| DISEASES 2047 \| EPHB1 \| 1.462 \| DISEASES 7430 \| EZR \| 1.549 \| DISEASES 2157 \| F8 \| 1.021 \| DISEASES 2271 \| FH \| 2.994 \| DISEASES 2272 \| FHIT \| 2.206 \| DISEASES 2642 \| GCGR \| 1.588 \| DISEASES 10243 \| GPHN \| 1.147 \| DISEASES 2959 \| GTF2B \| 1.303 \| DISEASES 3039 \| HBA1 \| 2.24 \| DISEASES 23462 \| HEY1 \| 1.113 \| DISEASES 3091 \| HIF1A \| 3.517 \| DISEASES 3227 \| HOXC11 \| 2.131 \| DISEASES 3434 \| IFIT1 \| 1.044 \| DISEASES 3880 \| KRT19 \| 1.231 \| DISEASES 3855 \| KRT7 \| 2.141 \| DISEASES 100506195 \| LARGE-AS1 \| 2.094 \| DISEASES 131578 \| LRRC15 \| 1.802 \| DISEASES 4221 \| MEN1 \| 4.556 \| DISEASES 2315 \| MLANA \| 1.61 \| DISEASES 64223 \| MLST8 \| 1.126 \| DISEASES 4311 \| MME \| 2.437 \| DISEASES 8260 \| NAA10 \| 1.028 \| DISEASES 10763 \| NES \| 1.093 \| DISEASES 4763 \| NF1 \| 4.339 \| DISEASES 4771 \| NF2 \| 2.617 \| DISEASES 4897 \| NRCAM \| 1 \| DISEASES 5021 \| OXTR \| 1.608 \| DISEASES 5076 \| PAX2 \| 2.76 \| DISEASES 7849 \| PAX8 \| 2.531 \| DISEASES 5828 \| PEX2 \| 1.648 \| DISEASES 5314 \| PKHD1 \| 2.399 \| DISEASES 5378 \| PMS1 \| 1.746 \| DISEASES 5573 \| PRKAR1A \| 1.375 \| DISEASES 8842 \| PROM1 \| 1.929 \| DISEASES 5728 \| PTEN \| 2.195 \| DISEASES 5792 \| PTPRF \| 1.315 \| DISEASES 5915 \| RARB \| 1.931 \| DISEASES 11186 \| RASSF1 \| 1.72 \| DISEASES 5979 \| RET \| 4.667 \| DISEASES 25950 \| RWDD3 \| 2.499 \| DISEASES 6390 \| SDHB \| 5.372 \| DISEASES 6391 \| SDHC \| 4.791 \| DISEASES 6392 \| SDHD \| 5.498 \| DISEASES 12 \| SERPINA3 \| 1.671 \| DISEASES 6461 \| SHB \| 1.424 \| DISEASES 6513 \| SLC2A1 \| 2.557 \| DISEASES 23583 \| SMUG1 \| 1.523 \| DISEASES 6794 \| STK11 \| 1.293 \| DISEASES 6839 \| SUV39H1 \| 1.066 \| DISEASES 84260 \| TCHP \| 2.166 \| DISEASES 7068 \| THRB \| 2.76 \| DISEASES 7311 \| UBA52 \| 1.198 \| DISEASES 7422 \| VEGFA \| 3.671 \| DISEASES 391104 \| VHLL \| 4.344 \| DISEASES 7432 \| VIP \| 1.1 \| DISEASES 7490 \| WT1 \| 1.643 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1168
Disease	hemangioblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0002664 \| Neoplasia \| 3 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0005584 \| Renal cell carcinoma \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0006770 \| Nonpapillary renal cell carcinoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002315 \| Headaches \| 2 HP:0005562 \| Multiple renal cysts \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0012531 \| Pain \| 1 HP:0007461 \| Hemangiomatosis \| 1 HP:0001649 \| Tachycardia \| 1 HP:0012459 \| Hypnic headache \| 1 HP:0003419 \| Low back pain \| 1 HP:0011508 \| Macular hole \| 1 HP:0000608 \| Macular degeneration \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0006748 \| Adrenal pheochromocytoma \| 1 HP:0007868 \| ARMD \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0011695 \| Cerebellar hemorrhage \| 1 HP:0000107 \| Renal cyst \| 1 HP:0003418 \| Back pain \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0002039 \| Anorexia \| 1 HP:0002013 \| Emesis \| 1 HP:0001288 \| Gait disturbance \| 1

Disease ID	1168
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 \| 14 C0019080 \| hemorrhage \| 4

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

Text Mining Genotype(Total 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.)

Disease ID	1168
Disease	hemangioblastoma
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter