Hereditary vascular retinopathy
General Information (adopted from Orphanet):
Synonyms, Signs: |
CEREBRORETINAL VASCULOPATHY, HEREDITARY RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA CRV HVR RVCL Hereditary vascular retinopathy - Raynaud phenomenon - migraine |
Number of Symptoms | 60 |
OrphanetNr: | 71291 |
OMIM Id: |
192315
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 1 family [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic central nervous system and retinal vascular disease
-Rare genetic disease Genetic vitreous-retinal disease -Rare eye disease -Rare genetic disease Retinal vasculopathy and cerebral leukodystrophy -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000093) | Proteinuria | 169 / 7739 | ||||
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(HPO:0000790) | Hematuria | 106 / 7739 | ||||
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(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
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(HPO:0007906) | Increased intraocular pressure | 30 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000646) | Amblyopia | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000573) | Retinal hemorrhage | 13 / 7739 | ||||
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(HPO:0001147) | Retinal exudate | 8 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0008046) | Abnormality of the retinal vasculature | 41 / 7739 | ||||
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(HPO:0000488) | Retinopathy | 75 / 7739 | ||||
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(HPO:0000618) | Blindness | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | 308 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | 158 / 7739 | ||||
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(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0002361) | Psychomotor deterioration | 26 / 7739 | ||||
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(HPO:0002076) | Migraine | 41 / 7739 | ||||
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(HPO:0002301) | Hemiplegia | 42 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002395) | Lower limb hyperreflexia | 26 / 7739 | ||||
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(HPO:0002311) | Incoordination | 84 / 7739 | ||||
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(HPO:0002376) | Developmental regression | 74 / 7739 | ||||
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(HPO:0002186) | Apraxia | 22 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | 129 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 327 / 7739 | ||||
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(HPO:0000708) | Behavioral abnormality | 212 / 7739 | ||||
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(HPO:0007017) | Progressive forgetfulness | 4 / 7739 | ||||
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(HPO:0001437) | Abnormality of the musculature of the lower limbs | 4 / 7739 | ||||
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(HPO:0009763) | Limb pain | 7 / 7739 | ||||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001413) | Micronodular cirrhosis | 11 / 7739 | ||||
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(HPO:0200029) | Vasculitis in the skin | 6 / 7739 | ||||
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(HPO:0100585) | Telangiectasia of the skin | 66 / 7739 | ||||
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(HPO:0001063) | Acrocyanosis | 56 / 7739 | ||||
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(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
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(HPO:0200030) | Punctate vasculitis skin lesions | 4 / 7739 | ||||
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(HPO:0002637) | Cerebral ischemia | 17 / 7739 | ||||
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(HPO:0002140) | Ischemic stroke | 70 / 7739 | ||||
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(HPO:0001297) | Stroke | 44 / 7739 | ||||
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(HPO:0003565) | Elevated erythrocyte sedimentation rate | 31 / 7739 | ||||
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(HPO:0000969) | Edema | 117 / 7739 | ||||
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(OMIM) | Periventricular white matter lesions | 4 / 7739 | ||||
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(OMIM) | Microangiopathic telangiectasia | 4 / 7739 | ||||
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(OMIM) | Retinal vasculopathy | 5 / 7739 | ||||
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(HPO:0002518) | Abnormality of the periventricular white matter | 24 / 7739 | ||||
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(HPO:0007009) | Central nervous system degeneration | 5 / 7739 | ||||
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(OMIM) | Poor concentration | 5 / 7739 | ||||
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(OMIM) | Macular edema | 6 / 7739 | ||||
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(OMIM) | Subcortical lesions with edema | 4 / 7739 | ||||
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(OMIM) | Pseudotumors | 4 / 7739 | ||||
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(OMIM) | Microaneurysms | 4 / 7739 | ||||
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(OMIM) | Glomerular dysfunction (variable) | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
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 ... |
Clinical Description OMIM |
Grand et al. (1988) reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis. The ... |
Molecular genetics OMIM |
In 9 families with autosomal dominant retinal vasculopathy with cerebral leukodystrophy, including families previously described by Grand et al. (1988), Storimans et al. (1991), Jen et al. (1997), Weil et al. (1999), and Cohn et al. (2005), Richards ... |