von Hippel-Lindau Disease
"von Hippel-Lindau Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
| Descriptor ID |
D006623
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| MeSH Number(s) |
C10.562.925 C14.907.077.925
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| Concept/Terms |
von Hippel-Lindau Disease- von Hippel-Lindau Disease
- von Hippel Lindau Disease
- Familial Cerebello-Retinal Angiomatosis
- Angiomatoses, Familial Cerebello-Retinal
- Angiomatosis, Familial Cerebello-Retinal
- Cerebello-Retinal Angiomatoses, Familial
- Cerebello-Retinal Angiomatosis, Familial
- Familial Cerebello Retinal Angiomatosis
- Familial Cerebello-Retinal Angiomatoses
- Hippel-Lindau Disease
- Hippel Lindau Disease
- Lindau Disease
- von Hippel-Lindau Syndrome
- Syndrome, von Hippel-Lindau
- von Hippel Lindau Syndrome
- Angiomatosis Retinae
- Retinae, Angiomatosis
- VHL Syndrome
- Syndrome, VHL
- Syndromes, VHL
- VHL Syndromes
- Cerebelloretinal Angiomatosis, Familial
- Angiomatoses, Familial Cerebelloretinal
- Angiomatosis, Familial Cerebelloretinal
- Cerebelloretinal Angiomatoses, Familial
- Familial Cerebelloretinal Angiomatoses
- Familial Cerebelloretinal Angiomatosis
- Lindau's Disease
- Lindau's Diseases
- Lindaus Disease
|
Below are MeSH descriptors whose meaning is more general than "von Hippel-Lindau Disease".
Below are MeSH descriptors whose meaning is more specific than "von Hippel-Lindau Disease".
This graph shows the total number of publications written about "von Hippel-Lindau Disease" by people in this website by year, and whether "von Hippel-Lindau Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2010 | 2 | 0 | 2 |
| 2012 | 0 | 1 | 1 |
| 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "von Hippel-Lindau Disease" by people in Profiles.
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Presentation, imaging, patterns of care, growth, and outcome in sporadic and von Hippel-Lindau-associated central nervous system hemangioblastomas. J Neurooncol. 2022 Sep; 159(2):221-231.
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Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience. Neurosurg Focus. 2022 05; 52(5):E2.
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Biomarkers of Targeted Therapy and Immuno-Oncology in Cancers Metastatic to the Breast. Appl Immunohistochem Mol Morphol. 2020 10; 28(9):661-668.
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Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1. Hum Mol Genet. 2012 Dec 15; 21(26):5456-71.
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Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. Clin Exp Ophthalmol. 2010 Apr; 38(3):277-83.
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Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease. BMC Med Genet. 2010 Jan 12; 11:4.
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Protracted haemangioblastic proliferation and differentiation in von Hippel-Lindau disease. J Pathol. 2008 Dec; 216(4):514-20.
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Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. J Neurosurg. 2006 Mar; 104(3):389-94.
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Familial pheochromocytoma due to mutant von Hippel-Lindau disease gene. Arch Intern Med. 1997 Jun 23; 157(12):1390-1.
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Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996; 8(4):348-57.