Disease Information for Von Hipple-Lindau disease/Retinocerebellar angiomas

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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
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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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