BSVD
MCID: CL4009
MIFTS: 31

Col4a1-Related Familial Vascular Leukoencephalopathy (BSVD)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Col4a1-Related Familial Vascular Leukoencephalopathy

MalaCards integrated aliases for Col4a1-Related Familial Vascular Leukoencephalopathy:

Name: Col4a1-Related Familial Vascular Leukoencephalopathy 12 58 15
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome 12 58
Col4a1-Related Brain Small Vessel Disease with Hemorrhage 12 58
Infantile Hemiparesis 12 6
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukencephalopathy 12
Brain Small Vessel Disease with or Without Ocular Anomalies 12
Brain Small Vessel Disease with Axenfeld-Riegar Anomaly 12
Leukoencephalopathy with Axenfeld-Riegar Anomaly 12
Brain Small Vessel Disease with Hemorrhage 12
Bsvd 12

Characteristics:

Orphanet epidemiological data:

58
col4a1-related familial vascular leukoencephalopathy
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090125
UMLS via Orphanet 71 C1843512 C2930808
Orphanet 58 ORPHA36383

Summaries for Col4a1-Related Familial Vascular Leukoencephalopathy

Disease Ontology : 12 A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.

MalaCards based summary : Col4a1-Related Familial Vascular Leukoencephalopathy, also known as col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome, is related to brain small vessel disease 1 with or without ocular anomalies and hemiplegia. An important gene associated with Col4a1-Related Familial Vascular Leukoencephalopathy is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Cell adhesion_ECM remodeling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include brain.

Related Diseases for Col4a1-Related Familial Vascular Leukoencephalopathy

Diseases related to Col4a1-Related Familial Vascular Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease 1 with or without ocular anomalies 33.0 COL4A2 COL4A1
2 hemiplegia 29.6 COL4A2 COL4A1
3 migraine with or without aura 1 29.6 NOTCH3 MT-TL1 COL4A1
4 porencephaly 29.4 NOTCH3 FLVCR2 COL4A2 COL4A1 AGAP1
5 col4a1-related brain small-vessel disease 11.5
6 acquired porencephaly 10.2 COL4A2 COL4A1
7 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.2 COL4A2 COL4A1
8 retinal arteries, tortuosity of 10.2 COL4A2 COL4A1
9 autosomal dominant alport syndrome 10.2 COL4A2 COL4A1
10 hemorrhage, intracerebral 10.2 COL4A2 COL4A1
11 autosomal recessive alport syndrome 10.1 COL4A2 COL4A1
12 hydranencephaly 10.1 FLVCR2 COL4A1
13 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.1 NOTCH3 HTRA1
14 pseudobulbar palsy 10.1 NOTCH3 HTRA1
15 familial porencephaly 10.1 COL4A2 COL4A1
16 optic nerve hypoplasia, bilateral 10.0 COL4A2 COL4A1
17 folate malabsorption, hereditary 10.0 SLC22A7 FLVCR2
18 cerebrovascular disease 9.9 NOTCH3 HTRA1 COL4A1
19 arterial tortuosity syndrome 9.9
20 schizencephaly 9.9
21 migraine with aura 9.9
22 hemosiderosis 9.9
23 epilepsy 9.9
24 encephalomalacia 9.9
25 myocarditis 9.9
26 placental abruption 9.9
27 cerebral atrophy 9.9
28 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8 NOTCH3 HTRA1 COL4A2 COL4A1
29 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 9.8 NOTCH3 HTRA1 COL4A2 COL4A1

Graphical network of the top 20 diseases related to Col4a1-Related Familial Vascular Leukoencephalopathy:



Diseases related to Col4a1-Related Familial Vascular Leukoencephalopathy

Symptoms & Phenotypes for Col4a1-Related Familial Vascular Leukoencephalopathy

Drugs & Therapeutics for Col4a1-Related Familial Vascular Leukoencephalopathy

Search Clinical Trials , NIH Clinical Center for Col4a1-Related Familial Vascular Leukoencephalopathy

Genetic Tests for Col4a1-Related Familial Vascular Leukoencephalopathy

Anatomical Context for Col4a1-Related Familial Vascular Leukoencephalopathy

MalaCards organs/tissues related to Col4a1-Related Familial Vascular Leukoencephalopathy:

40
Brain

Publications for Col4a1-Related Familial Vascular Leukoencephalopathy

Articles related to Col4a1-Related Familial Vascular Leukoencephalopathy:

(show all 26)
# Title Authors PMID Year
1
Targeted re-sequencing in pediatric and perinatal stroke. 6
32818659 2020
2
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
3
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 6
23225343 2013
4
Reorganizing the protein space at the Universal Protein Resource (UniProt). 6
22102590 2012
5
Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 6
17938367 2007
6
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 6
16598045 2006
7
Modified hemispherectomy for infantile hemiparesis and epilepsy. 61
33335778 2020
8
Effect of dual-task training on postural stability in children with infantile hemiparesis. 61
27134376 2016
9
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. 61
26289840 2015
10
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. 61
23560019 2012
11
Migraine and small vessel diseases. 61
22644171 2012
12
Prevalence of neurological disorders in children less than 10 years of age in RS Pura town of Jammu and Kashmir. 61
22408654 2011
13
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. 61
21157337 2011
14
Cognitive impairment of vascular origin: neuropathology of cognitive impairment of vascular origin. 61
20846674 2010
15
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. 61
20558831 2010
16
Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases. 61
20135578 2009
17
COL4A1-Related Disorders 61
20301768 2009
18
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 61
17379824 2007
19
Clinicopathologic findings in patients with infantile hemiparesis and epilepsy. 61
15188140 2004
20
Third ventriculostomy for internal hydrocephalus complicated by unrecognized subdural hygroma and hematoma: a case report of a patient treated by Dr. Walter Dandy. 61
12744382 2003
21
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. 61
12525718 2003
22
Epilepsy associated with infantile hemiparesis: predictors of long-term evolution. 61
11226723 2001
23
Residual sensorimotor functions in a patient after right-sided hemispherectomy. 61
1902915 1991
24
Myocarditis and acute infantile hemiparesis. Case report. 61
6543858 1984
25
[Effect of early rehabilitation treatment of acute infantile hemiparesis]. 61
6064459 1967
26
[Etiology of acute infantile hemiparesis in the light of catamnestic data with special reference to the H.H.E. syndrome (hemiconvulsions-hemiplegia-epilepsy)]. 61
14468608 1962

Variations for Col4a1-Related Familial Vascular Leukoencephalopathy

ClinVar genetic disease variations for Col4a1-Related Familial Vascular Leukoencephalopathy:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) SNV Pathogenic 38962 rs113994107 GRCh37: 13:110838860-110838860
GRCh38: 13:110186513-110186513
2 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 GRCh37: 13:110833673-110833673
GRCh38: 13:110181326-110181326
3 COL4A1 NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) SNV Pathogenic 989300 GRCh37: 13:110830429-110830429
GRCh38: 13:110178082-110178082
4 COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Likely pathogenic 135653 rs587780588 GRCh37: 13:110835349-110835349
GRCh38: 13:110183002-110183002
5 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Likely pathogenic 209141 rs797045034 GRCh37: 13:110830243-110830243
GRCh38: 13:110177896-110177896
6 COL4A1 NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) SNV Likely pathogenic 374263 rs1057518654 GRCh37: 13:110825068-110825068
GRCh38: 13:110172721-110172721
7 COL4A1 NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) SNV Likely pathogenic 637033 rs1594555106 GRCh37: 13:110833647-110833647
GRCh38: 13:110181300-110181300
8 COL4A1 NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) SNV Likely pathogenic 872928 GRCh37:
GRCh38:
9 COL4A1 NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) SNV Uncertain significance 707708 rs34843786 GRCh37: 13:110857746-110857746
GRCh38: 13:110205399-110205399
10 COL4A1 NM_001845.6(COL4A1):c.3557-14T>C SNV Uncertain significance 311037 rs886049957 GRCh37: 13:110823093-110823093
GRCh38: 13:110170746-110170746
11 COL4A1 NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) SNV Uncertain significance 311028 rs372556002 GRCh37: 13:110817321-110817321
GRCh38: 13:110164974-110164974
12 COL4A1 NM_001845.6(COL4A1):c.2095+7C>G SNV Uncertain significance 311059 rs886049961 GRCh37: 13:110835333-110835333
GRCh38: 13:110182986-110182986
13 COL4A1 NM_001845.6(COL4A1):c.553-8C>T SNV Uncertain significance 311076 rs199534388 GRCh37: 13:110862397-110862397
GRCh38: 13:110210050-110210050
14 COL4A1 NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) SNV Uncertain significance 311039 rs769021800 GRCh37: 13:110826321-110826321
GRCh38: 13:110173974-110173974
15 COL4A1 NM_001845.6(COL4A1):c.*1039A>G SNV Uncertain significance 311004 rs776016334 GRCh37: 13:110801671-110801671
GRCh38: 13:110149324-110149324
16 COL4A1 NM_001845.6(COL4A1):c.2344+11G>A SNV Uncertain significance 311053 rs886049960 GRCh37: 13:110831607-110831607
GRCh38: 13:110179260-110179260
17 COL4A1 NM_001845.6(COL4A1):c.*137G>A SNV Uncertain significance 311017 rs886049956 GRCh37: 13:110802573-110802573
GRCh38: 13:110150226-110150226
18 COL4A1 NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) SNV Uncertain significance 311054 rs750538499 GRCh37: 13:110831700-110831700
GRCh38: 13:110179353-110179353
19 COL4A1 NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) SNV Uncertain significance 311022 rs376607450 GRCh37: 13:110814597-110814597
GRCh38: 13:110162250-110162250
20 COL4A1 NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) SNV Uncertain significance 311080 rs886049963 GRCh37: 13:110864771-110864771
GRCh38: 13:110212424-110212424
21 COL4A1 NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) SNV Uncertain significance 311063 rs750386918 GRCh37: 13:110845257-110845257
GRCh38: 13:110192910-110192910
22 COL4A1 NM_001845.6(COL4A1):c.*887del Deletion Uncertain significance 311007 rs886049951 GRCh37: 13:110801823-110801823
GRCh38: 13:110149476-110149476
23 COL4A1 NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) SNV Uncertain significance 311024 rs760889798 GRCh37: 13:110814768-110814768
GRCh38: 13:110162421-110162421
24 COL4A1 NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) SNV Uncertain significance 311042 rs886049958 GRCh37: 13:110827054-110827054
GRCh38: 13:110174707-110174707
25 COL4A1 NM_001845.6(COL4A1):c.*634_*635AT[8] Microsatellite Uncertain significance 311009 rs886049952 GRCh37: 13:110802062-110802063
GRCh38: 13:110149715-110149716
26 COL4A1 NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) SNV Uncertain significance 311060 rs145645897 GRCh37: 13:110835428-110835428
GRCh38: 13:110183081-110183081
27 COL4A1 NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) SNV Uncertain significance 311056 rs150129180 GRCh37: 13:110833706-110833706
GRCh38: 13:110181359-110181359
28 COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 GRCh37: 13:110835342-110835342
GRCh38: 13:110182995-110182995
29 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 195868 rs145172612 GRCh37: 13:110839625-110839625
GRCh38: 13:110187278-110187278
30 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
31 COL4A1 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) SNV Likely benign 198472 rs34458255 GRCh37: 13:110864264-110864264
GRCh38: 13:110211917-110211917
32 COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) SNV Likely benign 196327 rs34004222 GRCh37: 13:110866346-110866346
GRCh38: 13:110213999-110213999
33 COL4A1 NM_001845.6(COL4A1):c.708C>G (p.Val236=) SNV Likely benign 311073 rs139523466 GRCh37: 13:110859822-110859822
GRCh38: 13:110207475-110207475
34 COL4A1 NM_001845.5(COL4A1):c.*1404T>C SNV Likely benign 369034 rs56406633 GRCh37: 13:110801306-110801306
GRCh38: 13:110148959-110148959
35 COL4A1 NM_001845.6(COL4A1):c.405C>T (p.Leu135=) SNV Likely benign 311078 rs138888319 GRCh37: 13:110864252-110864252
GRCh38: 13:110211905-110211905
36 COL4A1 NM_001845.6(COL4A1):c.*609T>C SNV Likely benign 311010 rs189966143 GRCh37: 13:110802101-110802101
GRCh38: 13:110149754-110149754
37 COL4A1 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) SNV Likely benign 197543 rs140210015 GRCh37: 13:110817303-110817303
GRCh38: 13:110164956-110164956
38 COL4A1 NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) SNV Likely benign 311041 rs2305082 GRCh37: 13:110827007-110827007
GRCh38: 13:110174660-110174660
39 COL4A1 NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) SNV Likely benign 311020 rs201150281 GRCh37: 13:110807727-110807727
GRCh38: 13:110155380-110155380
40 COL4A1 NM_001845.6(COL4A1):c.*975A>C SNV Likely benign 311006 rs28362515 GRCh37: 13:110801735-110801735
GRCh38: 13:110149388-110149388
41 COL4A1 NM_001845.6(COL4A1):c.-103G>A SNV Likely benign 311088 rs538721412 GRCh37: 13:110959477-110959477
GRCh38: 13:110307130-110307130
42 COL4A1 NM_001845.6(COL4A1):c.904-9C>T SNV Likely benign 311069 rs201481886 GRCh37: 13:110857762-110857762
GRCh38: 13:110205415-110205415
43 COL4A1 NM_001845.6(COL4A1):c.781-12G>A SNV Likely benign 311071 rs202198648 GRCh37: 13:110859250-110859250
GRCh38: 13:110206903-110206903
44 COL4A1 NM_001845.6(COL4A1):c.3506-7C>G SNV Likely benign 311038 rs377592935 GRCh37: 13:110825124-110825124
GRCh38: 13:110172777-110172777
45 COL4A1 NM_001845.6(COL4A1):c.*1014C>T SNV Likely benign 311005 rs139916479 GRCh37: 13:110801696-110801696
GRCh38: 13:110149349-110149349
46 COL4A1 NM_001845.6(COL4A1):c.2869+6T>C SNV Likely benign 311048 rs557198622 GRCh37: 13:110829226-110829226
GRCh38: 13:110176879-110176879
47 COL4A1 NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) SNV Likely benign 258259 rs146638269 GRCh37: 13:110804812-110804812
GRCh38: 13:110152465-110152465
48 COL4A1 NM_001845.6(COL4A1):c.1000-13C>G SNV Likely benign 311066 rs115358624 GRCh37: 13:110853882-110853882
GRCh38: 13:110201535-110201535
49 COL4A1 NM_001845.6(COL4A1):c.3326-13dup Duplication Likely benign 311040 rs139122216 GRCh37: 13:110826879-110826880
GRCh38: 13:110174532-110174533
50 COL4A2 , COL4A1 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 GRCh37: 13:110959387-110959387
GRCh38: 13:110307040-110307040

Expression for Col4a1-Related Familial Vascular Leukoencephalopathy

Search GEO for disease gene expression data for Col4a1-Related Familial Vascular Leukoencephalopathy.

Pathways for Col4a1-Related Familial Vascular Leukoencephalopathy

Pathways related to Col4a1-Related Familial Vascular Leukoencephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.15 COL4A2 COL4A1
2 11.03 COL4A2 COL4A1
3 10.95 COL4A2 COL4A1
4 10.79 COL4A2 COL4A1
5 10.56 COL4A2 COL4A1
6 10.19 COL4A2 COL4A1

GO Terms for Col4a1-Related Familial Vascular Leukoencephalopathy

Cellular components related to Col4a1-Related Familial Vascular Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen type IV trimer GO:0005587 8.62 COL4A2 COL4A1

Biological processes related to Col4a1-Related Familial Vascular Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A2 COL4A1

Molecular functions related to Col4a1-Related Familial Vascular Leukoencephalopathy according to GeneCards Suite gene sharing:

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

Sources for Col4a1-Related Familial Vascular Leukoencephalopathy

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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