Familial vascular leukoencephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY, INCLUDED
RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY, INCLUDED
INFANTILE HEMIPARESIS
Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy
Brain small vessel disease with hemorrhage
Number of Symptoms 37
OrphanetNr: 36383
OMIM Id: 607595
ICD-10: I67.3
UMLs: C2930808
MeSH: C531642
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
2
 (HPO:0001136) Retinal arteriolar tortuosity 5 / 7739
3
 (HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
4
 (HPO:0009918) Ectopia pupillae rare [HPO:skoehler] 6 / 7739
5
 (HPO:0000622) Blurred vision 14 / 7739
6
 (HPO:0000519) Congenital cataract rare [HPO:skoehler] 73 / 7739
7
 (HPO:0000646) Amblyopia rare [HPO:skoehler] 42 / 7739
8
 (HPO:0008053) Aplasia/Hypoplasia of the iris 38 / 7739
9
 (HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
10
 (HPO:0000575) Scotoma 11 / 7739
11
 (HPO:0011496) Corneal neovascularization rare [HPO:skoehler] 7 / 7739
12
 (HPO:0001089) Iris atrophy 8 / 7739
13
 (HPO:0007990) Hypoplastic iris stroma 9 / 7739
14
 (HPO:0000482) Microcornea rare [HPO:skoehler] 102 / 7739
15
 (HPO:0000501) Glaucoma rare [HPO:skoehler] 180 / 7739
16
 (HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
17
 (HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
18
 (HPO:0007676) Hypoplasia of the iris rare [HPO:skoehler] 22 / 7739
19
 (HPO:0011500) Polycoria rare [HPO:skoehler] 3 / 7739
20
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
21
 (HPO:0007957) Corneal opacity rare [HPO:skoehler] 84 / 7739
22
 (HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
23
 (HPO:0007899) Retinal nonattachment 10 / 7739
24
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
25
 (HPO:0002077) Migraine with aura 14 / 7739
26
 (HPO:0001269) Hemiparesis 51 / 7739
27
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
28
 (OMIM) White matter hyperintensities (MRI, T2 images) suggestive of old infarcts 1 / 7739
29
 (OMIM) Deep hypointensities (MRI, T2) suggestive of past microbleeds 1 / 7739
30
 (HPO:0002132) Porencephaly rare [HPO:skoehler] 18 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (OMIM) Axenfeld-Rieger anomalies (reported in 1 family) 1 / 7739
33
 (OMIM) Scotomas, episodic 1 / 7739
34
 (HPO:0006859) Posterior leukoencephalopathy 1 / 7739
35
 (OMIM) Blurred vision, episodic 3 / 7739
36
 (OMIM) Infantile hemiparesis 1 / 7739
37
 (OMIM) Dilated perivascular spaces 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vahedi et al. (2003) reported a French Caucasian family in which 6 of 8 members were affected over 3 generations by a retinal and central nervous system (CNS) disease consistent with an autosomal dominant pattern of inheritance. All ...
Molecular genetics OMIM Using linkage and molecular analysis, Vahedi et al. (2003) excluded CADASIL (125310) as the site of disease-causing mutations in their family with small vessel brain disease. Linkage excluded 3 hereditary cerebroretinal conditions linked to chromosome 3 (see 192315), ...