HERNS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRORETINAL VASCULOPATHY, HEREDITARY
RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA
CRV
RVCL
Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Number of Symptoms 75
OrphanetNr: 63261
OMIM Id: 192315
ICD-10: I67.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Retinal vasculopathy and cerebral leukodystrophy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
2
 (HPO:0002907) Microscopic hematuria Frequent [Orphanet] 27 / 7739
3
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
4
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
5
 (HPO:0000501) Glaucoma 180 / 7739
6
 (HPO:0007906) Increased intraocular pressure 30 / 7739
7
 (HPO:0000573) Retinal hemorrhage 13 / 7739
8
 (HPO:0000505) Visual impairment 297 / 7739
9
 (HPO:0000518) Cataract 454 / 7739
10
 (HPO:0000618) Blindness Frequent [Orphanet] 124 / 7739
11
 (HPO:0001147) Retinal exudate 8 / 7739
12
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
13
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
14
 (HPO:0007763) Retinal telangiectasia Frequent [Orphanet] 6 / 7739
15
 (HPO:0008046) Abnormality of the retinal vasculature 41 / 7739
16
 (HPO:0000529) Progressive visual loss 54 / 7739
17
 (HPO:0000646) Amblyopia Frequent [Orphanet] 42 / 7739
18
 (HPO:0002321) Vertigo Occasional [Orphanet] 58 / 7739
19
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
20
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 413 / 7739
21
 (HPO:0002376) Developmental regression Frequent [Orphanet] 74 / 7739
22
 (HPO:0002076) Migraine Frequent [Orphanet] 41 / 7739
23
 (HPO:0007017) Progressive forgetfulness 4 / 7739
24
 (HPO:0002067) Bradykinesia Frequent [Orphanet] 62 / 7739
25
 (HPO:0002133) Status epilepticus Frequent [Orphanet] 59 / 7739
26
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
27
 (HPO:0002121) Absence seizures Frequent [Orphanet] 62 / 7739
28
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
29
 (HPO:0002311) Incoordination Occasional [Orphanet] 84 / 7739
30
 (HPO:0002301) Hemiplegia Frequent [Orphanet] typical [HPO] 42 / 7739
31
 (HPO:0001260) Dysarthria Frequent [Orphanet] 329 / 7739
32
 (HPO:0002167) Neurological speech impairment 308 / 7739
33
 (HPO:0002304) Akinesia Frequent [Orphanet] 18 / 7739
34
 (HPO:0001268) Mental deterioration Frequent [Orphanet] typical [HPO] 88 / 7739
35
 (HPO:0001618) Dysphonia Frequent [Orphanet] 28 / 7739
36
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
37
 (HPO:0001269) Hemiparesis Frequent [Orphanet] typical [HPO] 51 / 7739
38
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 327 / 7739
39
 (HPO:0001250) Seizures Frequent [Orphanet] occasional [HPO] 1245 / 7739
40
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] typical [HPO] 158 / 7739
41
 (HPO:0001310) Dysmetria Frequent [Orphanet] 76 / 7739
42
 (HPO:0011147) Typical absence seizures Frequent [Orphanet] 33 / 7739
43
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
44
 (HPO:0011097) Epileptic spasms Frequent [Orphanet] 45 / 7739
45
 (HPO:0002186) Apraxia Frequent [Orphanet] 22 / 7739
46
 (HPO:0000726) Dementia Frequent [Orphanet] 131 / 7739
47
 (HPO:0002361) Psychomotor deterioration Frequent [Orphanet] typical [HPO] 26 / 7739
48
 (HPO:0001437) Abnormality of the musculature of the lower limbs 4 / 7739
49
 (HPO:0009763) Limb pain 7 / 7739
50
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
51
 (HPO:0001413) Micronodular cirrhosis 11 / 7739
52
 (HPO:0200030) Punctate vasculitis skin lesions 4 / 7739
53
 (HPO:0001009) Telangiectasia 46 / 7739
54
 (HPO:0001063) Acrocyanosis 56 / 7739
55
 (HPO:0200029) Vasculitis in the skin 6 / 7739
56
 (HPO:0100585) Telangiectasia of the skin 66 / 7739
57
 (HPO:0002637) Cerebral ischemia Frequent [Orphanet] 17 / 7739
58
 (HPO:0001297) Stroke Frequent [Orphanet] 44 / 7739
59
 (HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
60
 (HPO:0002326) Transient ischemic attack Frequent [Orphanet] 13 / 7739
61
 (HPO:0000969) Edema 117 / 7739
62
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
63
 (OMIM) Microaneurysms 4 / 7739
64
 (OMIM) Subcortical lesions with edema 4 / 7739
65
 (OMIM) Glomerular dysfunction (variable) 4 / 7739
66
 (OMIM) Pseudotumors 4 / 7739
67
 (Orphanet:43190) [DEL]Motor deficit/trouble Occasional [Orphanet] 6 / 7739
68
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
69
 (HPO:0007009) Central nervous system degeneration 5 / 7739
70
 (OMIM) Periventricular white matter lesions 4 / 7739
71
 (OMIM) Poor concentration 5 / 7739
72
 (OMIM) Retinal vasculopathy 5 / 7739
73
 (Orphanet:43400) Sensitive trouble/deficit Occasional [Orphanet] 2 / 7739
74
 (OMIM) Microangiopathic telangiectasia 4 / 7739
75
 (OMIM) Macular edema 6 / 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 ...