Cerebroretinal vasculopathy

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRORETINAL VASCULOPATHY, HEREDITARY
RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA
CRV
RVCL
Grand-Kaine-Fulling syndrome
Number of Symptoms 69
OrphanetNr: 3421
OMIM Id: 192315
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal vasculopathy and cerebral leukodystrophy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria 169 / 7739
2
 (HPO:0000790) Hematuria 106 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
5
 (HPO:0001147) Retinal exudate 8 / 7739
6
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
7
 (HPO:0007906) Increased intraocular pressure Occasional [Orphanet] occasional [HPO] 30 / 7739
8
 (HPO:0000529) Progressive visual loss 54 / 7739
9
 (HPO:0000573) Retinal hemorrhage 13 / 7739
10
 (HPO:0007763) Retinal telangiectasia Very frequent [Orphanet] 6 / 7739
11
 (HPO:0000488) Retinopathy 75 / 7739
12
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
13
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
14
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
 (HPO:0000646) Amblyopia Occasional [Orphanet] 42 / 7739
16
 (HPO:0000618) Blindness Occasional [Orphanet] 124 / 7739
17
 (HPO:0002301) Hemiplegia Frequent [Orphanet] typical [HPO] 42 / 7739
18
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
19
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
20
 (HPO:0002361) Psychomotor deterioration 26 / 7739
21
 (HPO:0001251) Ataxia 413 / 7739
22
 (HPO:0100022) Abnormality of movement 129 / 7739
23
 (HPO:0002076) Migraine 41 / 7739
24
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
25
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
26
 (HPO:0002376) Developmental regression 74 / 7739
27
 (HPO:0007017) Progressive forgetfulness 4 / 7739
28
 (HPO:0002381) Aphasia Frequent [Orphanet] 27 / 7739
29
 (HPO:0010529) Echolalia Frequent [Orphanet] 20 / 7739
30
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
31
 (HPO:0001268) Mental deterioration 88 / 7739
32
 (HPO:0000726) Dementia 131 / 7739
33
 (HPO:0001269) Hemiparesis Frequent [Orphanet] typical [HPO] 51 / 7739
34
 (HPO:0002357) Dysphasia Frequent [Orphanet] 33 / 7739
35
 (HPO:0002300) Mutism Frequent [Orphanet] 28 / 7739
36
 (HPO:0002186) Apraxia 22 / 7739
37
 (HPO:0002066) Gait ataxia 327 / 7739
38
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
39
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
40
 (HPO:0001260) Dysarthria 329 / 7739
41
 (HPO:0000708) Behavioral abnormality 212 / 7739
42
 (HPO:0002311) Incoordination 84 / 7739
43
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
44
 (HPO:0009763) Limb pain 7 / 7739
45
 (HPO:0001437) Abnormality of the musculature of the lower limbs 4 / 7739
46
 (HPO:0001413) Micronodular cirrhosis 11 / 7739
47
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
48
 (HPO:0200029) Vasculitis in the skin 6 / 7739
49
 (HPO:0001009) Telangiectasia 46 / 7739
50
 (HPO:0200030) Punctate vasculitis skin lesions 4 / 7739
51
 (HPO:0100585) Telangiectasia of the skin 66 / 7739
52
 (HPO:0001063) Acrocyanosis 56 / 7739
53
 (HPO:0002140) Ischemic stroke 70 / 7739
54
 (HPO:0002637) Cerebral ischemia 17 / 7739
55
 (HPO:0001297) Stroke 44 / 7739
56
 (HPO:0000969) Edema 117 / 7739
57
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
58
 (OMIM) Microangiopathic telangiectasia 4 / 7739
59
 (OMIM) Microaneurysms 4 / 7739
60
 (OMIM) Subcortical lesions with edema 4 / 7739
61
 (OMIM) Pseudotumors 4 / 7739
62
 (OMIM) Glomerular dysfunction (variable) 4 / 7739
63
 (Orphanet:42000) Structural anomalies of the nervous system Very frequent [Orphanet] 1 / 7739
64
 (OMIM) Poor concentration 5 / 7739
65
 (OMIM) Retinal vasculopathy 5 / 7739
66
 (OMIM) Periventricular white matter lesions 4 / 7739
67
 (OMIM) Macular edema 6 / 7739
68
 (HPO:0007009) Central nervous system degeneration 5 / 7739
69
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...