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Term:
Retinal Vasculopathy with Cerebral Leukodystrophy (DOID:9007374)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Al Gazali Sabrinathan Nair Syndrome 
Aneurysm +   
angiodysplasia +   
angioedema +   
angioid streaks +  
Angiomatosis +   
angiomyoma +  
anterior ischemic optic neuropathy +   
Arterial Dissection with Lentiginosis 
Arterial Injury +   
Arterial Occlusive Diseases +   
arteriovenous malformation +   
artery disease +   
Ausems Wittebol-Post Hennekam Syndrome 
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
Bothnia retinal dystrophy  
bradyopsia  
Calcification of Joints and Arteries +   
capillary disease +   
Carotid Intimal Medial Thickness 2 
Central Serous Chorioretinopathy  
cerebrovascular disease +   
cholesterol embolism +   
chorioretinal scar +  
compartment syndrome +   
cone dystrophy +   
diabetic angiopathy +   
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Embolism and Thrombosis +   
enhanced S-cone syndrome  
Fleck Retina, Familial Benign  
FLOTCH Syndrome 
fundus albipunctatus  
Grouped Pigmentation of the Macula 
Hand-Arm Vibration Syndrome 
hemangioma +   
hepatic vascular disease +   
Hyperemia  
hypertension +   
hypertensive retinopathy  
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Hypotension +   
intravenous leiomyomatosis 
Iris Hypoplasia and Glaucoma  
ischemia +   
ischemic colitis  
Krabbe disease +   
Leber congenital amaurosis +   
male genital organ vascular disease 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
Mesenteric Ischemia  
metachromatic leukodystrophy +   
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT  
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Myocardial Ischemia +   
nerve fibre bundle defect 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
night blindness +   
Oculomelic Amyoplasia  
Optic Atrophy with Demyelinating Disease of CNS 
Pancytopenia and Occlusive Vascular Disease 
peripheral vascular disease +   
Prehypertension  
preretinal fibrosis  
proliferative vitreoretinopathy +   
Pulmonary Vein Stenosis 
pulmonary venoocclusive disease +   
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
Reperfusion Injury +   
Retina Reperfusion Injury  
Retinal Aplasia 
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis  
Retinal Arteries, Tortuosity of  
retinal artery occlusion +   
retinal degeneration +   
retinal detachment +   
Retinal Dysplasia +   
retinal edema +   
Retinal Hemorrhage +   
Retinal Neoplasms +   
Retinal Neovascularization  
retinal perforation +  
retinal vascular disease +   
retinal vasculitis +   
Retinal Vasculopathy with Cerebral Leukodystrophy  
Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction. RVCL is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. (OMIM)
retinitis +   
retinopathy of prematurity +   
Roifman Syndrome  
rubeosis iridis 
scimitar syndrome +   
Sickle Cell Retinopathy  
Spinal Cord Vascular Diseases +   
splenic infarction 
Spontaneous Coronary Artery Dissection 
STING-associated vasculopathy with onset in infancy  
Superior Vena Cava Syndrome  
supine hypotensive syndrome 
telangiectasis +   
thoracic outlet syndrome +  
thrombosis +   
varicocele  
varicose veins +   
Vascular Fistula +   
vascular hemostatic disease +   
Vascular Hyalinosis 
Vascular Neoplasms 
Vascular System Injuries  
Vascular Tissue Neoplasms +   
vasculitis +   
Vasoplegia 
vein disease +   
Veno-Occlusive Disease +   
venous insufficiency +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  

Synonyms
Exact Synonyms: CRV ;   RVCL ;   Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena ;   hereditary cerebroretinal vasculopathy
Primary IDs: MESH:C566007 ;   RDO:0014492
Alternate IDs: OMIM:192315

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.