Details of Disease

General Information of Disease (ID: DIS1EAZC)

• Disease Name: Hemangioblastoma
• Synonyms: HMBL; capillary hemangioblastoma; hemangioblastoma; angioblastoma
• Definition: Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.
• Disease Hierarchy:
  DIS1GZDX: Neurovascular disorder
  DISQ8XPT: Capillary hemangioma
  DISYCJQC: Nervous system benign neoplasm
  DIS1EAZC: Hemangioblastoma
• Disease Identifiers:
  MONDO ID: MONDO_0016748
  MESH ID: D018325
  UMLS CUI: C0206734
  MedGen ID: 104929
  HPO ID: HP:0010797
  Orphanet ID: 252054
  SNOMED CT ID: 1156474009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bevacizumab	DMSD1UN	Approved	Monoclonal antibody	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HIF1A	TTSN6QU	Strong	Biomarker	[2]
RHBDF2	TTH1ZOP	Strong	Biomarker	[3]
SSTR1	TTIND6G	Strong	Altered Expression	[4]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDRG1	OTVO66BO	moderate	Biomarker	[5]
ELOA	OTOQTF5K	Strong	Genetic Variation	[6]
ELOB	OTZ3X84T	Strong	Genetic Variation	[6]
HILPDA	OTEID3ZM	Strong	Altered Expression	[7]
MIB1	OT5C404P	Strong	Biomarker	[8]
RBL1	OTDEBFYC	Strong	Biomarker	[9]
RNF139	OT0PR1X5	Strong	Genetic Variation	[10]
RWDD3	OTE76DY5	Strong	Biomarker	[11]
PLAGL1	OTZAO900	Definitive	Altered Expression	[12]
SESN2	OT889IXY	Definitive	Genetic Variation	[13]

References

• [1] Intra-arterial Bevacizumab for Posterior Fossa Hemangioblastoma. Cureus. 2022 Dec 17;14(12):e32624.
• [2] The 2-adrenergic receptor antagonist ICI-118,551 blocks the constitutively activated HIF signalling in hemangioblastomas from von Hippel-Lindau disease.Sci Rep. 2019 Jul 11;9(1):10062. doi: 10.1038/s41598-019-46448-6.
• [3] 68Ga-DOTA-TOC PET/CT of von Hippel-Lindau Disease.Clin Nucl Med. 2019 Feb;44(2):125-126. doi: 10.1097/RLU.0000000000002395.
• [4] Somatostatin receptor expression on von Hippel-Lindau-associated hemangioblastomas offers novel therapeutic target.Sci Rep. 2017 Jan 17;7:40822. doi: 10.1038/srep40822.
• [5] Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers.BMC Genet. 2004 Sep 2;5:27. doi: 10.1186/1471-2156-5-27.
• [6] Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues.Hum Mol Genet. 1999 Feb;8(2):229-36. doi: 10.1093/hmg/8.2.229.
• [7] Expression of HIF-1 regulated proteins vascular endothelial growth factor, carbonic anhydrase IX and hypoxia inducible gene 2 in hemangioblastomas.Folia Neuropathol. 2014;52(3):234-42. doi: 10.5114/fn.2014.45564.
• [8] Clinicopathological study of vascular endothelial growth factor (VEGF), p53, and proliferative potential in familial von Hippel-Lindau disease and sporadic hemangioblastomas.Brain Tumor Pathol. 2000;17(3):111-20. doi: 10.1007/BF02484282.
• [9] Rb1/Rbl1/Vhl loss induces mouse subretinal angiomatous proliferation and hemangioblastoma.JCI Insight. 2019 Nov 14;4(22):e127889. doi: 10.1172/jci.insight.127889.
• [10] A Novel RNF139 Mutation in Hemangioblastomas: Case Report.Front Neurol. 2019 Apr 12;10:359. doi: 10.3389/fneur.2019.00359. eCollection 2019.
• [11] RSUME inhibits VHL and regulates its tumor suppressor function.Oncogene. 2015 Sep 10;34(37):4855-66. doi: 10.1038/onc.2014.407. Epub 2014 Dec 15.
• [12] Tumor suppressor gene ZAC/PLAGL1: altered expression and loss of the nonimprinted allele in pheochromocytomas.Cancer Genet. 2011 Jul;204(7):398-404. doi: 10.1016/j.cancergen.2011.07.002.
• [13] Von hippel-lindau disease: a genetic and clinical review.Semin Ophthalmol. 2013 Sep-Nov;28(5-6):377-86. doi: 10.3109/08820538.2013.825281.