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- Disease Information
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Disease Information for Von Hipple-Lindau disease/Retinocerebellar angiomas
- Clinical Manifestations
- Signs & Symptoms
- Ataxia
- Cerebellar signs
- Headache in children
- Mental Deficiency Child
- Mental/motor retardation in children/signs
- Staggering Gait
- Unsteadiness movement/Gait in a child
- Psychomotor retardation
- Visual symptoms
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Established Disease Population
- Patient/Von Hippel-Lindau
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Von Hippel-Lindau
- Family history/Pheochromocytoma
- Family history/Ataxia
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Chromosomal abnormality (Lab)
- DNATest specific/genetics laboratory/abnormality (Lab)
- Associated Diseases & Rule outs
- Rule Outs
- Diabetic retinopathy
- Polycystic kidney disease
- Associated Disease & Complications
- Adenocarcinoma, pancreas
- Blindness
- Blindness in Children
- Brain tumor
- Carcinoma, renal cell
- Cerebellar ataxia
- Cerebellar hemangioma syndrome
- Cerebellar lesion
- Cerebellum hemangioblastoma
- Congenital cystic kidneys
- Epididymis Cyst
- Hemangioblastoma
- Hemangioblastoma retina
- Hemangioma
- Hereditary renal carcinoma syndrome
- Islet cell tumor
- Mental retardation
- Pancreas Congenital Cyst
- Pheochromocytoma
- Primary Brain Neoplasm
- Renal cyst
- Retinal Angioma
- Spinal cord angioma
- Ataxia Disorder
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Cerebellar disorder (ex)
- CLASS/Neurologic (category)
- CLASS/Eye involvement/disorder (ex)
- CLASS/Eyes/accessory (category)
- Pathophysiology
- Pathophysiology/Gene locus 11q13
- Pathophysiology/Gene locus 3p25
- Pathophysiology/Gene locus 3p26-p25
- Pathophysiology/Gene locus chromosome 3
- Pathophysiology/Gene locus Chromosome 3p
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Oncogene VHL/Locus 3p
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Eponymic (category)
- PROCESS/Genetic expressivity variable (ex)
- PROCESS/Hereditofamilial (category)
- PROCESS/Phakomatosis/congenital (ex)
- Synonyms
- Synonym
- Angiomatoses Familial Cerebello Retinal, Angiomatoses Familial Cerebelloretinal, Angiomatosis Familial Cerebello Retinal, Angiomatosis Familial Cerebelloretinal, ANGIOPHAKOMATOSIS RETINAE ET CEREBELLI, Cerebello Retinal Angiomatoses Familial, Cerebello Retinal Angiomatosis Familial, Cerebelloretinal Angiomatoses Familial, Cerebelloretinal Angiomatosis Familial, Cerebroretinal Angiomatosis, Diseases Lindau's, Familial Cerebello Retinal Angiomatoses, Familial Cerebello Retinal Angiomatosis, Familial Cerebelloretinal Angiomatoses, Familial Cerebelloretinal Angiomatosis, HEMANGIOBLASTOMATOSIS CEREBELLORETINAL, Hippel, HIPPEL LINDAU DIS, Hippel Lindau Disease, Hippel Lindau syndrome, LINDAU DIS, Lindau Disease, Lindau' disease, LINDAUS DIS, Lindaus Disease, Lindau's Disease, Lindau's Diseases, Syndrome von Hippel Lindau, VHL, VHL von Hippel Lindau syndr, VHL von Hippel Lindau syndrome, Von Hippel, VON HIPPEL LINDAU DIS, von Hippel Lindau Disease, von Hippel Lindau Syndrome, Von Hippel Lindau syndrome (disorder), Von Hippel Lindau Syndrome (VHL), Synonym/Angiomatosis retinae, Synonym/Angiophakomatosis retinae et cerebelli, Synonym/Cerebelloretinal hemangioblastomatosis, Synonym/Cerebelloretinal hemangioblastosis, Synonym/Hippel disease, Synonym/Hippel-Lindau syndrome (HLS), Synonym/Lindau disease, Synonym/Renal cell/Clear cell cancer variant, Synonym/Retinocerebellar angiomatosis, Synonym/VHL (Von Hippel Lindau)
- Definition
-
Angiophakomatosis Retinae et Cerebelli, Cerebelloretinal Hemangioblastomatosis, Hippel Disease; Hippel-Lindau Syndrome; Lindau Disease; This is a hereditary disorder characterized by the abnormal growth of small blood vessels (angiomatosis); these very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas; develop usually in the retina (retinoangioma) and/orin the cerebellum ( hemangioblastoma); pheochromocytoma is common; predisposed to some malignant tumors, including renal cell carcinoma----------[NORD 2005]--------------
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- External Links Related to Von Hipple-Lindau disease/Retinocerebellar angiomas
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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