BSVD
MCID: BRN139
MIFTS: 36

Brain Small Vessel Disease 1 with or Without Ocular Anomalies (BSVD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

MalaCards integrated aliases for Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

Name: Brain Small Vessel Disease 1 with or Without Ocular Anomalies 58
Brain Small Vessel Disease with Hemorrhage 58 76 38 30 6 41
Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 58 76 30 13
Porencephaly 1 76 30 13 6
Brain Small Vessel Disease with or Without Ocular Anomalies 58 76
Leukoencephalopathy with Axenfeld-Rieger Anomaly 58 76
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant 58
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis and Leukoencephalopathy 76
Porencephaly, Type 1, Autosomal Dominant, Formerly; Adt1p, Formerly 58
Porencephaly, Type 1, Autosomal Dominant, Formerly 58
Porencephaly, Type 1, Formerly; T1p, Formerly 58
Hemiplegia Infantile with Porencephaly Type 1 76
Porencephaly 1, Formerly; Poren1, Formerly 58
Hemiplegia, Infantile, with Porencephaly 58
Porencephaly Type 1 Autosomal Dominant 76
Porencephaly, Type 1, Formerly 58
Porencephaly 1, Formerly 58
Infantile Hemiparesis 76
Leukoencephalopathies 45
Porencephaly, Type 1 41
Porencephaly Type 1 76
Retinal Hemorrhage 45
Poren1, Formerly 58
Adt1p, Formerly 58
T1p, Formerly 58
Poren1 76
Bsvd1 58
Adt1p 76
Bsvd 76
T1p 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset usually in childhood
variable age of onset (range birth to 45 years)
variable severity (mild symptoms to severe handicap)
a subset of patients may have congenital abnormalities of the ocular anterior segment


HPO:

33
brain small vessel disease 1 with or without ocular anomalies:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

OMIM : 58 Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy. Some patients may show 'schizencephaly' on brain imaging, which is also attributed to encephaloclastic processes, such as vascular injury. The disorder shows variable penetrance and expressivity (summary by Merello et al., 2008, Gould et al., 2006; Shah et al., 2012; van der Knaap et al., 2006; Yoneda et al., 2013). 'Porencephaly' is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called 'schizencephalic', or type 2, porencephaly, is usually symmetric and may represent a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). (175780)

MalaCards based summary : Brain Small Vessel Disease 1 with or Without Ocular Anomalies, also known as brain small vessel disease with hemorrhage, is related to megalencephalic leukoencephalopathy with subcortical cysts 1 and progressive multifocal leukoencephalopathy. An important gene associated with Brain Small Vessel Disease 1 with or Without Ocular Anomalies is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include brain, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 76 Porencephaly 1: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma.

Related Diseases for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Diseases related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 509)
# Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 1 12.7
2 progressive multifocal leukoencephalopathy 12.7
3 leukoencephalopathy, hereditary diffuse, with spheroids 12.6
4 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 12.6
5 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.6
6 leukoencephalopathy with vanishing white matter 12.6
7 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 12.5
8 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 12.5
9 rnase t2-deficient leukoencephalopathy 12.5
10 leukoencephalopathy, cystic, without megalencephaly 12.4
11 leukoencephalopathy with ataxia 12.4
12 clcn2-related leukoencephalopathy 12.4
13 leukoencephalopathy with dystonia and motor neuropathy 12.4
14 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.4
15 leukoencephalopathy, brain calcifications, and cysts 12.3
16 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.3
17 leukoencephalopathy, progressive, with ovarian failure 12.3
18 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.3
19 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12.3
20 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 12.3
21 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 12.2
22 leukoencephalopathy palmoplantar keratoderma 12.2
23 leukoencephalopathy with metaphyseal chondrodysplasia 12.1
24 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 12.1
25 hypomyelinating leukoencephalopathy 12.1
26 leukoencephalopathy, cerebral calcifications, and cysts 12.0
27 progressive cavitating leukoencephalopathy 12.0
28 pontine autosomal dominant microangiopathy with leukoencephalopathy 12.0
29 combined oxidative phosphorylation deficiency 12 12.0
30 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 12.0
31 muscular dystrophy, adult-onset, with leukoencephalopathy 11.9
32 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 11.9
33 familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 11.9
34 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.9
35 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 11.9
36 mitochondrial dna depletion syndrome 1 11.9
37 retinal arteries, tortuosity of 11.9
38 col4a1-related familial vascular leukoencephalopathy 11.8
39 cerebral amyloid angiopathy, app-related 11.7
40 mitochondrial neurogastrointestinal encephalopathy disease 11.6
41 col4a1-related brain small-vessel disease 11.5
42 mitochondrial complex ii deficiency 11.5
43 vasculopathy, retinal, with cerebral leukodystrophy 11.4
44 shaken baby syndrome 11.4
45 familial porencephaly 11.3
46 panencephalitis, subacute sclerosing 11.3
47 ribose 5-phosphate isomerase deficiency 11.2
48 childhood ataxia with central nervous system hypomyelination/vanishing white matter 11.2
49 mitochondrial complex i deficiency, nuclear type 1 11.2
50 krabbe disease 11.2

Graphical network of the top 20 diseases related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies:



Diseases related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Symptoms & Phenotypes for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Human phenotypes related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 hemolytic anemia 33 HP:0001878
6 babinski sign 33 HP:0003487
7 visual field defect 33 HP:0001123
8 cerebellar atrophy 33 HP:0001272
9 hemiplegia 33 HP:0002301
10 cortical dysplasia 33 HP:0002539
11 tetraparesis 33 HP:0002273
12 exotropia 33 HP:0000577
13 facial paralysis 33 HP:0007209
14 limb dystonia 33 HP:0002451
15 leukoencephalopathy 33 HP:0002352
16 ischemic stroke 33 HP:0002140
17 schizencephaly 33 HP:0010636
18 porencephalic cyst 33 HP:0002132
19 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
intellectual disability
spasticity
cerebellar atrophy
hemiplegia
more
Head And Neck Eyes:
retinal arteriolar tortuosity
hypopigmentation of the fundus
exotropia
microcornea (in some patients)
microphthalmia (in some patients)
more
Head And Neck Face:
facial paresis

Hematology:
hemolytic anemia

Cardiovascular Vascular:
cerebral hemorrhage

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

175780

Drugs & Therapeutics for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Search Clinical Trials , NIH Clinical Center for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Cochrane evidence based reviews: retinal hemorrhage

Genetic Tests for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Genetic tests related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

# Genetic test Affiliating Genes
1 Brain Small Vessel Disease with Hemorrhage 30
2 Porencephaly 1 30
3 Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 30

Anatomical Context for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

MalaCards organs/tissues related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

42
Brain

Publications for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Articles related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

# Title Authors Year
1
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. ( 23560019 )
2012

Variations for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

76
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly749Ser VAR_030029 rs113994109
2 COL4A1 p.Gly1130Asp VAR_030030 rs113994111
3 COL4A1 p.Gly1236Arg VAR_030031 rs113994112
4 COL4A1 p.Gly1423Arg VAR_030032 rs113994113
5 COL4A1 p.Gly1580Arg VAR_064499 rs113994114

ClinVar genetic disease variations for Brain Small Vessel Disease 1 with or Without Ocular Anomalies:

6 (show top 50) (show all 298)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.5(COL4A1): c.2085delC (p.Gly696Alafs) deletion Pathogenic rs606231464 GRCh38 Chromosome 13, 110183003: 110183003
2 COL4A1 NM_001845.5(COL4A1): c.2085delC (p.Gly696Alafs) deletion Pathogenic rs606231464 GRCh37 Chromosome 13, 110835350: 110835350
3 COL4A1 NM_001845.5(COL4A1): c.2194-1G> A single nucleotide variant Pathogenic rs606231465 GRCh38 Chromosome 13, 110179422: 110179422
4 COL4A1 NM_001845.5(COL4A1): c.2194-1G> A single nucleotide variant Pathogenic rs606231465 GRCh37 Chromosome 13, 110831769: 110831769
5 COL4A1 NM_001845.5(COL4A1): c.2263G> A (p.Gly755Arg) single nucleotide variant Pathogenic rs672601346 GRCh37 Chromosome 13, 110831699: 110831699
6 COL4A1 NM_001845.5(COL4A1): c.2263G> A (p.Gly755Arg) single nucleotide variant Pathogenic rs672601346 GRCh38 Chromosome 13, 110179352: 110179352
7 COL4A1 NM_001845.5(COL4A1): c.2317G> C (p.Gly773Arg) single nucleotide variant Pathogenic rs672601347 GRCh37 Chromosome 13, 110831645: 110831645
8 COL4A1 NM_001845.5(COL4A1): c.2317G> C (p.Gly773Arg) single nucleotide variant Pathogenic rs672601347 GRCh38 Chromosome 13, 110179298: 110179298
9 COL4A1 NM_001845.5(COL4A1): c.4881C> G (p.Asn1627Lys) single nucleotide variant Pathogenic rs672601348 GRCh38 Chromosome 13, 110152381: 110152381
10 COL4A1 NM_001845.5(COL4A1): c.4881C> G (p.Asn1627Lys) single nucleotide variant Pathogenic rs672601348 GRCh37 Chromosome 13, 110804728: 110804728
11 COL4A1 NM_001845.5(COL4A1): c.2122G> A (p.Gly708Arg) single nucleotide variant Pathogenic rs672601349 GRCh38 Chromosome 13, 110181363: 110181363
12 COL4A1 NM_001845.5(COL4A1): c.2122G> A (p.Gly708Arg) single nucleotide variant Pathogenic rs672601349 GRCh37 Chromosome 13, 110833710: 110833710
13 COL4A1; COL4A2 NM_001845.5(COL4A1): c.19G> C (p.Val7Leu) single nucleotide variant Benign rs9515185 GRCh37 Chromosome 13, 110959356: 110959356
14 COL4A1; COL4A2 NM_001845.5(COL4A1): c.19G> C (p.Val7Leu) single nucleotide variant Benign rs9515185 GRCh38 Chromosome 13, 110307009: 110307009
15 COL4A1 NM_001845.5(COL4A1): c.1466-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs183563055 GRCh37 Chromosome 13, 110844637: 110844637
16 COL4A1 NM_001845.5(COL4A1): c.1466-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs183563055 GRCh38 Chromosome 13, 110192290: 110192290
17 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh37 Chromosome 13, 110839625: 110839625
18 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh38 Chromosome 13, 110187278: 110187278
19 COL4A1 NM_001845.5(COL4A1): c.1815T> C (p.Pro605=) single nucleotide variant Benign rs61749897 GRCh37 Chromosome 13, 110838814: 110838814
20 COL4A1 NM_001845.5(COL4A1): c.1815T> C (p.Pro605=) single nucleotide variant Benign rs61749897 GRCh38 Chromosome 13, 110186467: 110186467
21 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh37 Chromosome 13, 110866346: 110866346
22 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh38 Chromosome 13, 110213999: 110213999
23 COL4A1 NM_001845.5(COL4A1): c.234+8C> T single nucleotide variant Benign rs9521650 GRCh37 Chromosome 13, 110866265: 110866265
24 COL4A1 NM_001845.5(COL4A1): c.234+8C> T single nucleotide variant Benign rs9521650 GRCh38 Chromosome 13, 110213918: 110213918
25 COL4A1 NM_001845.5(COL4A1): c.3996C> T (p.Gly1332=) single nucleotide variant Benign rs150857429 GRCh37 Chromosome 13, 110818604: 110818604
26 COL4A1 NM_001845.5(COL4A1): c.3996C> T (p.Gly1332=) single nucleotide variant Benign rs150857429 GRCh38 Chromosome 13, 110166257: 110166257
27 COL4A1 NM_001845.5(COL4A1): c.4002A> C (p.Gln1334His) single nucleotide variant Benign rs3742207 GRCh37 Chromosome 13, 110818598: 110818598
28 COL4A1 NM_001845.5(COL4A1): c.4002A> C (p.Gln1334His) single nucleotide variant Benign rs3742207 GRCh38 Chromosome 13, 110166251: 110166251
29 COL4A1 NM_001845.5(COL4A1): c.4056C> T (p.Tyr1352=) single nucleotide variant Likely benign rs140210015 GRCh37 Chromosome 13, 110817303: 110817303
30 COL4A1 NM_001845.5(COL4A1): c.4056C> T (p.Tyr1352=) single nucleotide variant Likely benign rs140210015 GRCh38 Chromosome 13, 110164956: 110164956
31 COL4A1 NM_001845.5(COL4A1): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs34458255 GRCh37 Chromosome 13, 110864264: 110864264
32 COL4A1 NM_001845.5(COL4A1): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs34458255 GRCh38 Chromosome 13, 110211917: 110211917
33 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh37 Chromosome 13, 110830243: 110830243
34 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh38 Chromosome 13, 110177896: 110177896
35 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh38 Chromosome 11, 119081189: 119081189
36 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh37 Chromosome 11, 118951899: 118951899
37 COL4A1 NM_001845.5(COL4A1): c.2245G> A (p.Gly749Ser) single nucleotide variant Pathogenic rs113994109 GRCh38 Chromosome 13, 110179370: 110179370
38 COL4A1 NM_001845.5(COL4A1): c.1685G> A (p.Gly562Glu) single nucleotide variant Pathogenic rs121912857 GRCh37 Chromosome 13, 110839528: 110839528
39 COL4A1 NM_001845.5(COL4A1): c.1685G> A (p.Gly562Glu) single nucleotide variant Pathogenic rs121912857 GRCh38 Chromosome 13, 110187181: 110187181
40 COL4A1 NM_001845.5(COL4A1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs113994103 GRCh37 Chromosome 13, 110959374: 110959374
41 COL4A1 NM_001845.5(COL4A1): c.3389G> A (p.Gly1130Asp) single nucleotide variant Pathogenic rs113994111 GRCh37 Chromosome 13, 110826810: 110826810
42 COL4A1 NM_001845.5(COL4A1): c.3389G> A (p.Gly1130Asp) single nucleotide variant Pathogenic rs113994111 GRCh38 Chromosome 13, 110174463: 110174463
43 COL4A1 NM_001845.5(COL4A1): c.4267G> C (p.Gly1423Arg) single nucleotide variant Pathogenic rs113994113 GRCh37 Chromosome 13, 110814772: 110814772
44 COL4A1 NM_001845.5(COL4A1): c.4267G> C (p.Gly1423Arg) single nucleotide variant Pathogenic rs113994113 GRCh38 Chromosome 13, 110162425: 110162425
45 COL4A1 NM_001845.5(COL4A1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs113994103 GRCh38 Chromosome 13, 110307027: 110307027
46 COL4A1 NM_001845.5(COL4A1): c.2245G> A (p.Gly749Ser) single nucleotide variant Pathogenic rs113994109 GRCh37 Chromosome 13, 110831717: 110831717
47 COL4A1 NM_001845.5(COL4A1): c.3706G> A (p.Gly1236Arg) single nucleotide variant Pathogenic rs113994112 GRCh38 Chromosome 13, 110170583: 110170583
48 COL4A1 NM_001845.5(COL4A1): c.3706G> A (p.Gly1236Arg) single nucleotide variant Pathogenic rs113994112 GRCh37 Chromosome 13, 110822930: 110822930
49 COL4A1 NM_001845.5(COL4A1): c.2159G> A (p.Gly720Asp) single nucleotide variant Pathogenic rs113994108 GRCh37 Chromosome 13, 110833673: 110833673
50 COL4A1 NM_001845.5(COL4A1): c.2159G> A (p.Gly720Asp) single nucleotide variant Pathogenic rs113994108 GRCh38 Chromosome 13, 110181326: 110181326

Expression for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Search GEO for disease gene expression data for Brain Small Vessel Disease 1 with or Without Ocular Anomalies.

Pathways for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Pathways related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies according to KEGG:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

Sources for Brain Small Vessel Disease 1 with or Without Ocular Anomalies

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