Hereditary vascular retinopathy

Title

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Other Names:

HVR

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

This disease is grouped under:

Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Micronodular cirrhosis		0001413
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter		0002518
Adult onset	Symptoms begin in adulthood	0003581
Apraxia		0002186
Autosomal dominant inheritance		0000006
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Central nervous system degeneration		0007009
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Diminished ability to concentrate	Poor concentration	0031987
Dysarthria	Difficulty articulating speech	0001260
Elevated erythrocyte sedimentation rate	High ESR	0003565
Elevated hepatic transaminase	High liver enzymes	0002910
Hematuria	Blood in urine	0000790
Hemiparesis	Weakness of one side of body	0001269
Limb pain		0009763
Lower limb hyperreflexia	Overactive lower leg reflex	0002395
Macular edema		0040049
Migraine	Intermittent migraine headaches Migraine headache Migraine headaches [ more ]	0002076
Progressive	Worsens with time	0003676
Progressive forgetfulness		0007017
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Punctate vasculitis skin lesions		0200030
Raynaud phenomenon		0030880
Retinal exudate		0001147
Retinal hemorrhage	Retinal bleeding	0000573
Seizure		0001250
Stroke		0001297
Telangiectasia		0001009
Vasculitis in the skin		0200029
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Energy 4 a Cure Foundation
5000 Eldorado Parkway, Suite 150, #403
Firsco, TX 75033
Telephone: 281-825-2854
E-mail: info@RVCLresearch.org
Website: http://www.rvclresearch.org/index.php

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary vascular retinopathy. Click on the link to view a sample search on this topic.

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