BSVD1
MCID: BRN139
MIFTS: 53

Brain Small Vessel Disease 1 with or Without Ocular Anomalies (BSVD1)

Categories: Cardiovascular 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 57 72 29 6
Brain Small Vessel Disease with Hemorrhage 57 29 6 70
Brain Small Vessel Disease with or Without Ocular Anomalies 57 70
Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 57 29
Porencephaly 1 72 13
Bsvd1 57 72
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant 57
Porencephaly, Type 1, Autosomal Dominant, Formerly; Adt1p, Formerly 57
Porencephaly, Type 1, Autosomal Dominant, Formerly 57
Leukoencephalopathy with Axenfeld-Rieger Anomaly 57
Porencephaly, Type 1, Formerly; T1p, Formerly 57
Hemiplegia Infantile with Porencephaly Type 1 72
Porencephaly 1, Formerly; Poren1, Formerly 57
Hemiplegia, Infantile, with Porencephaly 57
Porencephaly Type 1 Autosomal Dominant 72
Porencephaly, Type 1, Formerly 57
Porencephaly 1, Formerly 57
Porencephaly, Familial 70
Leukoencephalopathies 70
Porencephaly Type 1 72
Retinal Hemorrhage 70
Poren1, Formerly 57
Adt1p, Formerly 57
T1p, Formerly 57
Poren1 72
Adt1p 72
T1p 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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

Inheritance:
autosomal dominant


HPO:

31
brain small vessel disease 1 with or without ocular anomalies:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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 col4a1-related familial vascular leukoencephalopathy and familial porencephaly, and has symptoms including seizures, hemiplegia and muscle spasticity. 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 PI3K-Akt signaling pathway and Focal Adhesion. The drugs Natalizumab and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and t cells, and related phenotypes are corneal opacity and glaucoma

UniProtKB/Swiss-Prot : 72 Brain small vessel disease 1 with or without ocular anomalies: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid- filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies.

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 all 21)
# Related Disease Score Top Affiliating Genes
1 col4a1-related familial vascular leukoencephalopathy 32.3 COL4A2 COL4A1
2 familial porencephaly 31.5 COL4A2 COL4A1
3 col4a1-related brain small-vessel disease 11.5
4 brain small vessel disease 2 10.9
5 brain small vessel disease 3 10.9
6 developmental dysplasia of the hip 1 10.0
7 acquired porencephaly 9.8 COL4A2 COL4A1
8 porencephaly 9.8 COL4A2 COL4A1
9 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 9.8 COL4A2 COL4A1
10 retinal arteries, tortuosity of 9.8 COL4A2 COL4A1
11 autosomal dominant alport syndrome 9.8 COL4A2 COL4A1
12 alport syndrome 9.8 COL4A2 COL4A1
13 hemorrhage, intracerebral 9.8 COL4A2 COL4A1
14 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8 COL4A2 COL4A1
15 autosomal recessive alport syndrome 9.7 COL4A2 COL4A1
16 optic nerve hypoplasia, bilateral 9.7 COL4A2 COL4A1
17 hemiplegia 9.7 COL4A2 COL4A1
18 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 9.7 COL4A2 COL4A1
19 anterior segment dysgenesis 9.6 COL4A2 COL4A1
20 walker-warburg syndrome 9.6 COL4A2 COL4A1
21 keratoconus 9.5 COL4A2 COL4A1

Comorbidity relations with Brain Small Vessel Disease 1 with or Without Ocular Anomalies via Phenotypic Disease Network (PDN):


Hypertension, Essential Macular Degeneration, Age-Related, 1

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:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 corneal opacity 31 very rare (1%) HP:0007957
2 glaucoma 31 very rare (1%) HP:0000501
3 hypoplasia of the iris 31 very rare (1%) HP:0007676
4 microphthalmia 31 very rare (1%) HP:0000568
5 corneal neovascularization 31 very rare (1%) HP:0011496
6 microcornea 31 very rare (1%) HP:0000482
7 astigmatism 31 very rare (1%) HP:0000483
8 ectopia pupillae 31 very rare (1%) HP:0009918
9 developmental cataract 31 very rare (1%) HP:0000519
10 hypermetropia 31 very rare (1%) HP:0000540
11 peripapillary atrophy 31 very rare (1%) HP:0500087
12 polycoria 31 very rare (1%) HP:0011500
13 intellectual disability 31 HP:0001249
14 spasticity 31 HP:0001257
15 hydrocephalus 31 HP:0000238
16 myopia 31 HP:0000545
17 elevated serum creatine kinase 31 HP:0003236
18 hemolytic anemia 31 HP:0001878
19 amblyopia 31 HP:0000646
20 retinal arteriolar tortuosity 31 HP:0001136
21 migraine 31 HP:0002076
22 cerebral hemorrhage 31 HP:0001342
23 babinski sign 31 HP:0003487
24 hypopigmentation of the fundus 31 HP:0007894
25 leukoencephalopathy 31 HP:0002352
26 cerebellar atrophy 31 HP:0001272
27 hemiparesis 31 HP:0001269
28 tetraparesis 31 HP:0002273
29 visual field defect 31 HP:0001123
30 hemiplegia 31 HP:0002301
31 limb dystonia 31 HP:0002451
32 blurred vision 31 HP:0000622
33 exotropia 31 HP:0000577
34 ischemic stroke 31 HP:0002140
35 facial paralysis 31 HP:0007209
36 schizencephaly 31 HP:0010636
37 focal cortical dysplasia 31 HP:0032046
38 seizure 31 HP:0001250
39 porencephalic cyst 31 HP:0002132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hydrocephalus
leukoencephalopathy
cerebellar atrophy
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 (Updated 20-May-2021)

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


seizures; hemiplegia; muscle spasticity; dystonia, limb; facial paresis; abnormal pyramidal signs; quadriparesis

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

Drugs for Brain Small Vessel Disease 1 with or Without Ocular Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Natalizumab Approved, Investigational Phase 4 189261-10-7
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Immunoglobulins Phase 4
9 Antibodies Phase 4
10 Hormones Phase 4
11 Gastrointestinal Agents Phase 4
12 Methylprednisolone Acetate Phase 4
13 Antiemetics Phase 4
14 Neuroprotective Agents Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Protective Agents Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Hormone Antagonists Phase 4
19 glucocorticoids Phase 4
20 Fluorodeoxyglucose F18 Phase 4
21 Radiopharmaceuticals Phase 4
22
Ranibizumab Approved Phase 2, Phase 3 347396-82-1 459903
23
Melatonin Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 73-31-4 896
24 Angiogenesis Inhibitors Phase 2, Phase 3
25 Tissue Plasminogen Activator Phase 2, Phase 3
26 Plasminogen Phase 2, Phase 3
27 Antioxidants Phase 2, Phase 3
28
Bevacizumab Approved, Investigational Phase 2 216974-75-3
29
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
30
Enfuvirtide Approved, Investigational Phase 2 159519-65-0 16130199
31
Emtricitabine Approved, Investigational Phase 2 143491-57-0 60877
32
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
33
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
34
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
35
Didanosine Approved Phase 2 69655-05-6 50599
36
Lenograstim Approved, Investigational Phase 2 135968-09-1
37
Zidovudine Approved Phase 2 30516-87-1 35370
38
Zalcitabine Approved, Investigational Phase 2 7481-89-2 24066
39
Pembrolizumab Approved Phase 2 1374853-91-4
40
Tocopherol Approved, Investigational Phase 2 1406-66-2
41
Cilostazol Approved, Investigational Phase 1, Phase 2 73963-72-1 2754
42
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
43
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
44
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Busulfan Approved, Investigational Phase 2 55-98-1 2478
47
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
48
rituximab Approved Phase 2 174722-31-7 10201696
49
Mefloquine Approved, Investigational Phase 1, Phase 2 53230-10-7 4046
50
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Switching Relapsing Multiple Sclerosis Patients Treated With Natalizumab at Risk for Progressive Multifocal Leukoencephalopathy to Teriflunomide: Is This Safe and Effective? (Sub-study: SWITCH-JCV) Recruiting NCT01970410 Phase 4 teriflunomide
2 High-Dose Corticosteroids for Immune Reconstitution Inflammatory Syndrome in Patients Who Develop Progressive Multifocal Leukoencephalopathy on Natalizumab Terminated NCT01211665 Phase 4 Methylprednisolone;Prednisolone
3 Relation of Carotid Artery Plaque Inflammation, Covert Stroke and White Matter Disease Terminated NCT01236508 Phase 4
4 Intravitreal Tissue Plasminogen Activator And Perfluoropropane for Neovascular Age-related Macular Degeneration With Associated Submacular Haemorrhage: a Multi-centre, Randomized, Double-masked, Sham-controlled, Factorial, Feasibility Study Completed NCT01835067 Phase 2, Phase 3 Ranibizumab;C3F8 Gas;tPA
5 Therapeutic Effects of Maternal Melatonin Administration on Brain Injury and White Matter Disease in Very Preterm Infants Terminated NCT02395783 Phase 2, Phase 3 Melatonin 10 µg;Melatonin 20 µg
6 Perfluorocarbon Gases for the Repair of Retinal Detachments. Unknown status NCT00161525 Phase 2
7 Temozolomide Plus Bevacizumab Chemotherapy in Supratentorial Glioblastoma in 70 Years and Older Patients With an Impaired Functional Status (KPS<70) Completed NCT02898012 Phase 2 Temozolomide;Bevacizumab
8 Early Intensification of Combination Antiretroviral Therapy Including FUZEON® in the Treatment of Progressive Multifocal Leucoencephalopathy During HIV-1 Infection ANRS 125 Trial Completed NCT00120367 Phase 2 Enfuvirtide;Tenofovir-Emtricitabine
9 An Open, Comparative Phase II Study of Immediate Versus Delayed Treatment With Topotecan HCl Given as a Continuous 21-Day Infusion Every 28 Days to Patients With AIDS-Related Progressive Multifocal Leukoencephalopathy Completed NCT00002395 Phase 2 Topotecan
10 A Phase II Multicenter Study Comparing Antiretroviral Therapy Alone to Antiretroviral Therapy Plus Cytosine Arabinoside (Cytarabine; Ara-C) for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Human Immunodeficiency Virus (HIV)-Infected Subjects Completed NCT00001048 Phase 2 Filgrastim;Cytarabine;Zidovudine;Zalcitabine;Didanosine
11 A Trial of Crizanlizumab for the Treatment of Retinal Vasculopathy With Cerebral Leukoencephalopathy (RVCL) Recruiting NCT04611880 Phase 2 Crizanlizumab
12 The Effect and Safety of Programmed Cell Death Protein 1 (PD-1) Inhibitor on AIDS Patients With Progressive Multifocal Leukoencephalopathy (PML): A One-center, Single-arm and Prospective Study Recruiting NCT04091932 Phase 2 Pembrolizumab
13 A Randomized Placebo-controlled Double-blind Pilot / Phase II Study to Assess the Efficacy and Safety of HOV-12020 in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Recruiting NCT04658823 Phase 2 HOV-12020 (Palm tocotrienols complex);Placebo
14 Retinal Vasoreactivity is a Marker for Cerebral Small Vessel Disease Progression Recruiting NCT04753970 Phase 1, Phase 2 Cilostazol
15 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
16 A Randomized, Rater-Blinded Study to Explore the Effect of Mefloquine in Subjects With Progressive Multifocal Leukoencephalopathy (PML) Terminated NCT00746941 Phase 1, Phase 2 mefloquine
17 Use of Subretinal Ranibizumab (Lucentis) in the Management of Submacular Hemorrhage in Neovascular Age-Related Macular Degeneration (AMD) Withdrawn NCT00538538 Phase 1 vitrectomy with subretinal lucentis;vitrectomy with subretinal lucentis
18 EPIBRAINRAD : Study of Neurological Complication After Radiotherapy for Glioblastoma High Grade Unknown status NCT02544178
19 Cognitive Changes and Rehabilitation in People With Transient Ischemic Attack, Stroke, or Stroke Risk Factors Unknown status NCT01951612
20 Robotic Retinal Dissection Device Trial Completed NCT03052881
21 A Pilot Study of Adoptive Cellular Immunotherapy for Progressive Multifocal Leukoencephalopathy With Ex Vivo Generated Polyomavirus-Specific T-cells Completed NCT02694783 Early Phase 1
22 Role of Inflammation in PML Completed NCT01132053
23 JC Virus Reactivation in Multiple Sclerosis Completed NCT02004444
24 Retrospective Study of the Survival of Patients Suffering From Hiv-related Progressive Multifocal Leukoencephalopathy Completed NCT02895581
25 Assessment of Clinical and Neuroradiologic Evidence of Methotrexate Leukoencephalopathy in Children Treated on POG 9605 and 9201 Completed NCT00028509
26 A Pilot Study of the Effect of Cidofovir for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Subjects With Acquired Immunodeficiency Syndrome (AIDS) Completed NCT00000945 Cidofovir;Probenecid
27 A Pilot Study of the Efficacy of Recombinant Alpha Interferon (IFN-A2b) and Zidovudine (AZT) in the Treatment of Progressive Multifocal Leukoencephalopathy (PML) Complicating HIV-1 Infection Completed NCT00002270 Interferon alfa-2b;Zidovudine
28 Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis Completed NCT01114815
29 Leukodystrophies of Unknown Cause Completed NCT00889174
30 Hyperbaric Oxygen Treatment In Patients With White Matter Hyperintensities On Magnetic Resonance Imaging and Neurologic Deficits Completed NCT00497432
31 Do CCR5 Antagonists Improve the Overall Survival of Patients With AIDS-related Progressive Multifocal Leucoencephalopathy? Completed NCT03969550
32 Initial Efficacy Study of Supporting Play, Exploration, & Early Development Intervention (SPEEDI) - Phase 1 Clinical Trial Completed NCT02153736
33 An Open Label Study Regimen of Videx (2',3'-Dideoxyinosine, ddI) in Patients With Acquired Immunodeficiency Syndrome (AIDS) Exhibiting Significant Deterioration While Taking Zidovudine (Retrovir) Completed NCT00002274 Didanosine
34 Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation Recruiting NCT03624374
35 Sensitivity and Specificity of the Red Reflex Test for Detecting Anterior and Posterior Segment Ophthalmic Pathology in the Pediatric Population Recruiting NCT04125043
36 Natural History Study of Progressive Multifocal Leukoencephalopathy (PML) Recruiting NCT01730131
37 Dynamics of T Cell Expression of Immune Checkpoint Molecules in Progressive Multifocal Leukoencephalopathy Recruiting NCT04453917
38 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study Recruiting NCT04310098
39 Brain Networks and Mobility Function: B-NET Recruiting NCT03430427
40 Cerebrovascular Reserve and White Matter Disease in Patients With Chronic Anemia Recruiting NCT03715972 Hydroxyurea;Acetazolamide
41 The Relationship Between Right-to-left Shunt and Brain White Matter Lesions in Chinese Patients With Migraine:a Multicenter Study. CAMBRAIN Study. Recruiting NCT03418766
42 Advanced MR-methods, Protein Levels in Cerebrospinal Fluid, Gait Analysis and Symptoms in Patients With Idiopathic Normal Pressure Hydrocephalus. Recruiting NCT04808076
43 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190
44 Amyloid and Glucose PET Imaging in Alzheimer and Vascular Cognitive Impairment Patients With Significant White Matter Disease Recruiting NCT02330510
45 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
46 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
47 New Diagnostic Approaches in Leukodystrophy: The Myelin Disorders Biorepository and Natural History Project Recruiting NCT03047369
48 An Observational Study Utilising Data From the US Tysabri TOUCH Programme and Select EU MS Registries to Estimate the Risk of Progressive Multifocal Leukoencephalopathy (PML) and Other Serious Opportunistic Infections Among Patients Who Were Exposed to an MS Disease Modifying Treatment Prior to Treatment With Tysabri Active, not recruiting NCT03399981
49 Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation Enrolling by invitation NCT04503213
50 A Pilot Study of NT-I7, a Long-Acting Recombinant IL-7 Molecule, as an Immune Reconstitution Strategy for Lymphopenia in Patients With Progressive Multifocal Leukoencephalopathy Not yet recruiting NCT04781309 Early Phase 1 NT-I7

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

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 29 COL4A1
2 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 29 COL4A1
3 Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 29

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:

40
Brain, Spinal Cord, T Cells, Eye

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:

(show all 35)
# Title Authors PMID Year
1
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 57 6
24628545 2014
2
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 6 57
23394911 2013
3
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 57 6
23225343 2013
4
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 57 6
23065703 2013
5
Childhood presentation of COL4A1 mutations. 6 57
22574627 2012
6
Ophthalmological features associated with COL4A1 mutations. 57 6
20385946 2010
7
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 57 6
19194877 2009
8
Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 57 6
17938367 2007
9
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 6 57
17696175 2007
10
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 57 6
16107487 2006
11
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 6 57
16598045 2006
12
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 57 6
15905400 2005
13
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. 6 57
15136694 2004
14
Hereditary porencephaly: clinical and MRI findings in two Dutch families. 6 57
15023374 2004
15
Familial porencephalic white matter disease in two generations. 6 57
6428250 1984
16
Hereditary diseases of the eye in a study of blind and partially sighted. 57 6
7257746 1981
17
Targeted re-sequencing in pediatric and perinatal stroke. 6
32818659 2020
18
Prenatal clinical manifestations in individuals with COL4A1/2 variants. 6
32732225 2020
19
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. 57
30413629 2018
20
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 6
28017902 2017
21
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
22
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. 57
25719457 2015
23
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice. 57
26567795 2015
24
Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation. 57
26576802 2015
25
Reorganizing the protein space at the Universal Protein Resource (UniProt). 6
22102590 2012
26
No major role for the EMX2 gene in schizencephaly. 57
18409201 2008
27
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 57
16374828 2006
28
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. 57
16159887 2005
29
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. 57
12525718 2003
30
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. 57
12244556 2002
31
Familial porencephaly. 57
2282721 1990
32
Familial porencephaly and congenital hemiplegia. 57
3761085 1986
33
Familial porencephaly. 57
6615288 1983
34
Hereditary nonprogressive athetotic hemiplegia: a new syndrome. 57
561341 1977
35
The clivus-supraocciput angle: a useful measurement to evaluate the shape and size of the fetal posterior fossa and to diagnose Chiari II malformation. 61
11529995 2001

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

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

6 (show top 50) (show all 289)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) SNV Pathogenic 989300 GRCh37: 13:110830429-110830429
GRCh38: 13:110178082-110178082
2 COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) SNV Pathogenic 17412 rs113994112 GRCh37: 13:110822930-110822930
GRCh38: 13:110170583-110170583
3 COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 GRCh37: 13:110831717-110831717
GRCh38: 13:110179370-110179370
4 COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) SNV Pathogenic 17414 rs121912857 GRCh37: 13:110839528-110839528
GRCh38: 13:110187181-110187181
5 COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) SNV Pathogenic 17415 rs113994103 GRCh37: 13:110959374-110959374
GRCh38: 13:110307027-110307027
6 COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) SNV Pathogenic 17416 rs113994111 GRCh37: 13:110826810-110826810
GRCh38: 13:110174463-110174463
7 COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) SNV Pathogenic 17417 rs113994113 GRCh37: 13:110814772-110814772
GRCh38: 13:110162425-110162425
8 COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) SNV Pathogenic 17422 rs113994114 GRCh37: 13:110807647-110807647
GRCh38: 13:110155300-110155300
9 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 GRCh37: 13:110833673-110833673
GRCh38: 13:110181326-110181326
10 COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) SNV Pathogenic 132791 rs587777379 GRCh37: 13:110818624-110818624
GRCh38: 13:110166277-110166277
11 COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs) Deletion Pathogenic 161440 rs606231464 GRCh37: 13:110835350-110835350
GRCh38: 13:110183003-110183003
12 COL4A1 NM_001845.6(COL4A1):c.2194-1G>A SNV Pathogenic 161441 rs606231465 GRCh37: 13:110831769-110831769
GRCh38: 13:110179422-110179422
13 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 GRCh37: 13:110831699-110831699
GRCh38: 13:110179352-110179352
14 COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 GRCh37: 13:110831645-110831645
GRCh38: 13:110179298-110179298
15 COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 GRCh37: 13:110804728-110804728
GRCh38: 13:110152381-110152381
16 COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 GRCh37: 13:110833710-110833710
GRCh38: 13:110181363-110181363
17 COL4A1 NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) SNV Pathogenic 38962 rs113994107 GRCh37: 13:110838860-110838860
GRCh38: 13:110186513-110186513
18 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) SNV Pathogenic 440782 rs1555302922 GRCh37: 13:110827659-110827659
GRCh38: 13:110175312-110175312
19 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 GRCh37: 13:110833673-110833673
GRCh38: 13:110181326-110181326
20 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 389182 rs1057523354 GRCh37: 13:110831734-110831734
GRCh38: 13:110179387-110179387
21 COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) Duplication Pathogenic 807559 rs1594568948 GRCh37: 13:110847397-110847398
GRCh38: 13:110195050-110195051
22 COL4A1 NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) SNV Pathogenic 982405 GRCh37: 13:110804766-110804766
GRCh38: 13:110152419-110152419
23 COL4A1 NM_001845.6(COL4A1):c.2458+1G>A SNV Pathogenic 1027961 GRCh37: 13:110831269-110831269
GRCh38: 13:110178922-110178922
24 COL4A1 NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) SNV Pathogenic 1027966 GRCh37: 13:110804722-110804722
GRCh38: 13:110152375-110152375
25 COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Pathogenic 135653 rs587780588 GRCh37: 13:110835349-110835349
GRCh38: 13:110183002-110183002
26 COL4A1 NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) SNV Likely pathogenic 982414 GRCh37: 13:110825067-110825067
GRCh38: 13:110172720-110172720
27 COL4A1 NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) SNV Likely pathogenic 1027965 GRCh37: 13:110822082-110822082
GRCh38: 13:110169735-110169735
28 COL4A1 NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) SNV Likely pathogenic 983450 GRCh37: 13:110827077-110827077
GRCh38: 13:110174730-110174730
29 COL4A1 NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) SNV Likely pathogenic 992987 GRCh37: 13:110828813-110828813
GRCh38: 13:110176466-110176466
30 COL4A1 NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) SNV Likely pathogenic 978038 GRCh37: 13:110831278-110831278
GRCh38: 13:110178931-110178931
31 COL4A1 NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) SNV Likely pathogenic 976758 GRCh37: 13:110826987-110826987
GRCh38: 13:110174640-110174640
32 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) Deletion Likely pathogenic 827790 rs1594566751 GRCh37: 13:110845180-110845180
GRCh38: 13:110192833-110192833
33 COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 GRCh37: 13:110829259-110829259
GRCh38: 13:110176912-110176912
34 COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 GRCh37: 13:110835357-110835357
GRCh38: 13:110183010-110183010
35 COL4A1 NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) SNV Likely pathogenic 374263 rs1057518654 GRCh37: 13:110825068-110825068
GRCh38: 13:110172721-110172721
36 COL4A1 NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) SNV Likely pathogenic 637033 rs1594555106 GRCh37: 13:110833647-110833647
GRCh38: 13:110181300-110181300
37 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Likely pathogenic 209141 rs797045034 GRCh37: 13:110830243-110830243
GRCh38: 13:110177896-110177896
38 COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Likely pathogenic 135653 rs587780588 GRCh37: 13:110835349-110835349
GRCh38: 13:110183002-110183002
39 COL4A1 NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) SNV Likely pathogenic 872928 GRCh37:
GRCh38:
40 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Conflicting interpretations of pathogenicity 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
41 COL4A1 NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) SNV Uncertain significance 977158 GRCh37: 13:110822020-110822020
GRCh38: 13:110169673-110169673
42 COL4A1 NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) SNV Uncertain significance 931245 GRCh37: 13:110864016-110864016
GRCh38: 13:110211669-110211669
43 COL4A1 NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln) SNV Uncertain significance 932001 GRCh37: 13:110853788-110853788
GRCh38: 13:110201441-110201441
44 COL4A1 NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) SNV Uncertain significance 1027962 GRCh37: 13:110827686-110827686
GRCh38: 13:110175339-110175339
45 COL4A1 NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) SNV Uncertain significance 596811 rs1566349683 GRCh37: 13:110826841-110826841
GRCh38: 13:110174494-110174494
46 COL4A1 NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) SNV Uncertain significance 880844 GRCh37: 13:110838877-110838877
GRCh38: 13:110186530-110186530
47 COL4A1 NM_001845.6(COL4A1):c.*952A>G SNV Uncertain significance 881849 GRCh37: 13:110801758-110801758
GRCh38: 13:110149411-110149411
48 COL4A1 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) SNV Uncertain significance 196947 rs146288748 GRCh37: 13:110829038-110829038
GRCh38: 13:110176691-110176691
49 COL4A1 NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) SNV Uncertain significance 880786 GRCh37: 13:110830545-110830545
GRCh38: 13:110178198-110178198
50 COL4A1 NM_001845.6(COL4A1):c.2344+12C>A SNV Uncertain significance 882176 GRCh37: 13:110831606-110831606
GRCh38: 13:110179259-110179259

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

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly562Glu VAR_030028 rs121912857
2 COL4A1 p.Gly749Ser VAR_030029 rs113994109
3 COL4A1 p.Gly1130Asp VAR_030030 rs113994111
4 COL4A1 p.Gly1236Arg VAR_030031 rs113994112
5 COL4A1 p.Gly1423Arg VAR_030032 rs113994113
6 COL4A1 p.Gly720Asp VAR_064496 rs113994108
7 COL4A1 p.Gly755Arg VAR_064497 rs672601346
8 COL4A1 p.Gly805Arg VAR_064498 rs113994110
9 COL4A1 p.Gly1580Arg VAR_064499 rs113994114
10 COL4A1 p.Gly708Arg VAR_073813 rs672601349
11 COL4A1 p.Gly773Arg VAR_073814 rs672601347
12 COL4A1 p.Gly882Asp VAR_073816
13 COL4A1 p.Gly1266Arg VAR_073821
14 COL4A1 p.Asn1627Lys VAR_073826 rs672601348

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 GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 COL4A2 COL4A1
2
Show member pathways
12.34 COL4A2 COL4A1
3
Show member pathways
12.28 COL4A2 COL4A1
4 12.26 COL4A2 COL4A1
5
Show member pathways
12.18 COL4A2 COL4A1
6
Show member pathways
12.07 COL4A2 COL4A1
7
Show member pathways
11.69 COL4A2 COL4A1
8
Show member pathways
11.49 COL4A2 COL4A1
9 11.47 COL4A2 COL4A1
10 11.43 COL4A2 COL4A1
11 11.37 COL4A2 COL4A1
12 11.15 COL4A2 COL4A1
13 11.03 COL4A2 COL4A1
14 10.95 COL4A2 COL4A1
15 10.79 COL4A2 COL4A1
16 10.56 COL4A2 COL4A1
17 10.46 COL4A2 COL4A1
18 10.19 COL4A2 COL4A1

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

Cellular components related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.37 COL4A2 COL4A1
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A2 COL4A1
3 extracellular matrix GO:0031012 9.26 COL4A2 COL4A1
4 basement membrane GO:0005604 9.16 COL4A2 COL4A1
5 collagen trimer GO:0005581 8.96 COL4A2 COL4A1
6 collagen type IV trimer GO:0005587 8.62 COL4A2 COL4A1

Biological processes related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL4A2 COL4A1
2 angiogenesis GO:0001525 8.96 COL4A2 COL4A1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A2 COL4A1

Molecular functions related to Brain Small Vessel Disease 1 with or Without Ocular Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A2 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A2 COL4A1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....