von Hippel-Lindau syndrome


Also found in: Acronyms.

von Hip·pel-Lin·dau syn·drome

(făn hip'el lan'dow), [MIM*193300]
a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p.

von Hip·pel-Lin·dau syn·drome

(făn hip'el lan'dow), [MIM*193300]
a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p.

Lindau,

Arvid Wilhelm, Swedish pathologist, 1892-1958.
Lindau disease - Synonym(s): von Hippel-Lindau syndrome
Lindau tumor - a benign cerebellar neoplasm. Synonym(s): hemangioblastoma
von Hippel-Lindau syndrome - see under von Hippel

von Hippel,

Eugen, German ophthalmologist, 1867-1939.
Hippel keratoplasty
Hippel trephine
von Hippel disease - retinal hemangiomatosis.
von Hippel-Lindau syndrome - a type of phacomatosis, consisting of hemangiomas of the retina associated with hemangiomas or hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord. Synonym(s): cerebroretinal angiomatosis; Lindau disease
References in periodicals archive ?
Once the diagnosis is made, it is imperative to exclude the possibility of a neoplasm arising in the setting of Von Hippel-Lindau syndrome. In the current case, an extensive workup was negative.
Rigamonti, "Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease," Neurosurgery, vol.
The most common hereditary renal cancer syndromes are associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC), Von Hippel-Lindau syndrome (VHL), and hereditary papillary renal carcinoma (HPRC).
The sixteen lines of stem cells on the NIH Registry carry genes for various hereditary disorders including Duchenne muscular dystrophy, Huntington's disease, cystic fibrosis, and rarer conditions such as Von Hippel-Lindau Syndrome, Wiskott-Aldrich syndrome, spinal muscular atrophy, myotonic dystrophy and neurofibromatosis.
* Inherited diseases associated with secondary hypertension include polycystic kidney disease, multiple endocrine neoplasia type 2 (MEN2), and von Hippel-Lindau syndrome. (12,13) All are inherited in an autosomal dominant pattern.
Hemangioblastomas of the central nervous system: a 10 year study with special reference to von Hippel-Lindau syndrome. J Neurosurg.
Additionally, other pancreatic lesions are commonly seen, such as multiple pancreatic cysts in patients with Von Hippel-Lindau syndrome (Figures 12 and 13).
Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome. Otol Neurotol 2002;23:378-87.
VHL (Von Hippel-Lindau Syndrome) Family Alliance 171 Clinton Rd.
Some GI tract and pancreatic NETs are associated with hereditary syndromes, including MEN1, von Hippel-Lindau syndrome, neurofibromatosis 1, and tuberous sclerosis.
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes.