Von hippel-lindau disease: a genetic and clinical review.

[von hippel-lindau disease]

Von Hippel-Lindau Disease (VHL ) is an autosomal dominant inherited systemic cancer syndrome that gives rise to cystic and highly vascularized tumors in many organs , including the eye . Recent studies have contributed to the understanding of VHL pathophysiology , genetics , and the role of the VHL protein . This article reviews recent studies on VHL clinical findings , genetics and tumorigenesis .Literature review of articles on VHL genetics with correlation to clinical findings .Genotype-phenotype correlation studies show that patients with a complete deletion mutation of the VHL gene , relative to participants with a missense or protein-truncating mutation , had better visual acuity and decreased tumorigenesis incidence of retinal hemangioblastomas . It has also been documented that higher levels of vascular endothelial growth factor (VEGF ), hypoxia induced factor (HIF ), and ubiquitin are found in ocular hemangioblastomas . The stromal foamy vacuolated cells seem to be the true tumor cells of the disease acting on the surrounding endothelial cells in ocular hemangioblastomas . Tumor cells and ocular lesions have shown increased levels of Erythropoietin (Epo ), Epo receptor (EpoR ), and CD 133 . Also , CXCR 4 , a CXC chemokine receptor , is expressed in retinal VHL hemangioblastomas . Recent studies suggest that the VHL mutation alone may not be sufficient to develop VHL -associated neoplasms . Studies suggest that targeting various proteins along with anti-angiogenesis molecules may be a better therapeutic approach than targeting VEGF alone .Understanding of the mechanisms and genetics underlying VHL and its associated retinal hemangioblastomas has increased substantially in recent years . This knowledge suggests that future advances may include better identification of individuals at higher risk of vision loss and the development of novel individualized therapies .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated