BSVD
MCID: CL4009
MIFTS: 34

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
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
Infantile Hemiparesis 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 72 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 porencephaly. 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 Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Cell adhesion_Plasmin signaling. Affiliated tissues include brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 27)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease 1 with or without ocular anomalies 33.8 COL4A2 COL4A1
2 porencephaly 29.9 HTRA1 COL4A2 COL4A1
3 migraine with or without aura 1 29.1 TREX1 NOTCH3 MT-TL1 HTRA1 COL4A1
4 col4a1-related brain small-vessel disease 11.6
5 familial porencephaly 10.3 COL4A2 COL4A1
6 acquired porencephaly 10.2 COL4A2 COL4A1
7 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.2 COL4A2 COL4A1
8 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10.1 NOTCH3 HTRA1
9 retinal arteries, tortuosity of 10.1 TREX1 COL4A2 COL4A1
10 pseudobulbar palsy 10.1 NOTCH3 HTRA1
11 epilepsy 10.0
12 arteriolosclerosis 10.0 TREX1 NOTCH3 HTRA1
13 hemorrhage, intracerebral 10.0 COL4A2 COL4A1
14 arterial tortuosity syndrome 9.9
15 schizencephaly 9.9
16 migraine with aura 9.9
17 hemiplegia 9.9
18 encephalomalacia 9.9
19 myocarditis 9.9
20 placental abruption 9.9
21 cerebral atrophy 9.9
22 vasculopathy, retinal, with cerebral leukodystrophy 9.8 TREX1 NOTCH3 HTRA1 COL4A1
23 cerebrovascular disease 9.8 TREX1 NOTCH3 HTRA1 COL4A1
24 walker-warburg syndrome 9.7 POMGNT1 COL4A2 COL4A1
25 glaucoma 3, primary congenital, a 9.7 POMGNT1 COL4A1
26 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6 TREX1 NOTCH3 HTRA1 COL4A2 COL4A1
27 cerebral degeneration 9.5 TREX1 POMGNT1 NOTCH3 HTRA1 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

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.68 COL4A2 NOTCH3 POMGNT1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.68 POMGNT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.68 COL4A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.68 NOTCH3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.68 COL4A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.68 POMGNT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.68 DDOST
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.68 NOTCH3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 9.68 DDOST
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.68 COL4A2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.68 DDOST
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.68 NOTCH3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.68 POMGNT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.68 POMGNT1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.68 POMGNT1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.68 NOTCH3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.68 NOTCH3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.68 DDOST
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.68 COL4A2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.68 POMGNT1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-96 9.68 DDOST

MGI Mouse Phenotypes related to Col4a1-Related Familial Vascular Leukoencephalopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.43 COL4A1 COL4A2 NEURL2 NOTCH3 POMGNT1 TREX1
2 vision/eye MP:0005391 9.28 AGAP1 COL4A1 COL4A2 DDOST HTRA1 NOTCH3

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 19)
# Title Authors PMID Year
1
Effect of dual-task training on postural stability in children with infantile hemiparesis. 61
27134376 2016
2
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. 61
26289840 2015
3
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. 61
23560019 2012
4
Migraine and small vessel diseases. 61
22644171 2012
5
Prevalence of neurological disorders in children less than 10 years of age in RS Pura town of Jammu and Kashmir. 61
22408654 2011
6
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. 61
21157337 2011
7
Cognitive impairment of vascular origin: neuropathology of cognitive impairment of vascular origin. 61
20846674 2010
8
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. 61
20558831 2010
9
Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases. 61
20135578 2009
10
COL4A1-Related Disorders 61
20301768 2009
11
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 61
17379824 2007
12
Clinicopathologic findings in patients with infantile hemiparesis and epilepsy. 61
15188140 2004
13
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
14
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. 61
12525718 2003
15
Epilepsy associated with infantile hemiparesis: predictors of long-term evolution. 61
11226723 2001
16
Residual sensorimotor functions in a patient after right-sided hemispherectomy. 61
1902915 1991
17
Myocarditis and acute infantile hemiparesis. Case report. 61
6543858 1984
18
[Effect of early rehabilitation treatment of acute infantile hemiparesis]. 61
6064459 1967
19
[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 184) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val)SNV Pathogenic 440782 rs1555302922 13:110827659-110827659 13:110175312-110175312
2 COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)duplication Pathogenic 807559 13:110847397-110847398 13:110195050-110195051
3 COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)SNV Pathogenic 17412 rs113994112 13:110822930-110822930 13:110170583-110170583
4 COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)SNV Pathogenic 17413 rs113994109 13:110831717-110831717 13:110179370-110179370
5 COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu)SNV Pathogenic 17414 rs121912857 13:110839528-110839528 13:110187181-110187181
6 COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)SNV Pathogenic 17415 rs113994103 13:110959374-110959374 13:110307027-110307027
7 COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)SNV Pathogenic 17416 rs113994111 13:110826810-110826810 13:110174463-110174463
8 COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)SNV Pathogenic 17417 rs113994113 13:110814772-110814772 13:110162425-110162425
9 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)SNV Pathogenic 17421 rs113994108 13:110833673-110833673 13:110181326-110181326
10 COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)SNV Pathogenic 17422 rs113994114 13:110807647-110807647 13:110155300-110155300
11 COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)SNV Pathogenic 132791 rs587777379 13:110818624-110818624 13:110166277-110166277
12 COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs)deletion Pathogenic 161440 rs606231464 13:110835350-110835350 13:110183003-110183003
13 COL4A1 NM_001845.6(COL4A1):c.2194-1G>ASNV Pathogenic 161441 rs606231465 13:110831769-110831769 13:110179422-110179422
14 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)SNV Pathogenic 161974 rs672601346 13:110831699-110831699 13:110179352-110179352
15 COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg)SNV Pathogenic 161975 rs672601347 13:110831645-110831645 13:110179298-110179298
16 COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys)SNV Pathogenic 161976 rs672601348 13:110804728-110804728 13:110152381-110152381
17 COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg)SNV Pathogenic 161977 rs672601349 13:110833710-110833710 13:110181363-110181363
18 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)SNV Pathogenic/Likely pathogenic 209141 rs797045034 13:110830243-110830243 13:110177896-110177896
19 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)SNV Pathogenic/Likely pathogenic 389182 rs1057523354 13:110831734-110831734 13:110179387-110179387
20 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer)deletion Likely pathogenic 827790 13:110845180-110845180 13:110192833-110192833
21 COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)SNV Likely pathogenic 864857 13:110829259-110829259 13:110176912-110176912
22 COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)SNV Likely pathogenic 434810 rs1555303720 13:110835357-110835357 13:110183010-110183010
23 COL4A1 NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)SNV Conflicting interpretations of pathogenicity 418141 rs377122126 13:110819508-110819508 13:110167161-110167161
24 COL4A1 NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)SNV Conflicting interpretations of pathogenicity 447159 rs146091004 13:110838791-110838791 13:110186444-110186444
25 COL4A1 NM_001845.6(COL4A1):c.1466-6C>TSNV Conflicting interpretations of pathogenicity 195811 rs183563055 13:110844637-110844637 13:110192290-110192290
26 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)SNV Conflicting interpretations of pathogenicity 195868 rs145172612 13:110839625-110839625 13:110187278-110187278
27 COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)SNV Conflicting interpretations of pathogenicity 196327 rs34004222 13:110866346-110866346 13:110213999-110213999
28 COL4A1 NM_001845.6(COL4A1):c.2968+12A>GSNV Conflicting interpretations of pathogenicity 311046 rs752476229 13:110828961-110828961 13:110176614-110176614
29 COL4A1 NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)SNV Conflicting interpretations of pathogenicity 311055 rs781133776 13:110833672-110833672 13:110181325-110181325
30 COL4A1 NM_001845.6(COL4A1):c.388-11T>CSNV Conflicting interpretations of pathogenicity 311079 rs201801894 13:110864280-110864280 13:110211933-110211933
31 COL4A1 NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)SNV Conflicting interpretations of pathogenicity 311022 rs376607450 13:110814597-110814597 13:110162250-110162250
32 COL4A1 NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)SNV Conflicting interpretations of pathogenicity 311024 rs760889798 13:110814768-110814768 13:110162421-110162421
33 COL4A1 NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)SNV Conflicting interpretations of pathogenicity 311023 rs199586038 13:110814598-110814598 13:110162251-110162251
34 COL4A1 NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)SNV Conflicting interpretations of pathogenicity 311039 rs769021800 13:110826321-110826321 13:110173974-110173974
35 COL4A1 NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)SNV Conflicting interpretations of pathogenicity 311060 rs145645897 13:110835428-110835428 13:110183081-110183081
36 COL4A1 NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)SNV Conflicting interpretations of pathogenicity 311063 rs750386918 13:110845257-110845257 13:110192910-110192910
37 COL4A1 NM_001845.6(COL4A1):c.1000-5T>GSNV Conflicting interpretations of pathogenicity 311065 rs75711155 13:110853874-110853874 13:110201527-110201527
38 COL4A1 NM_001845.6(COL4A1):c.-103G>ASNV Conflicting interpretations of pathogenicity 311088 rs538721412 13:110959477-110959477 13:110307130-110307130
39 COL4A1 NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)SNV Conflicting interpretations of pathogenicity 311061 rs372803920 13:110838771-110838771 13:110186424-110186424
40 COL4A1 NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)SNV Conflicting interpretations of pathogenicity 311044 rs375787099 13:110827599-110827599 13:110175252-110175252
41 COL4A1 NM_001845.6(COL4A1):c.553-8C>TSNV Conflicting interpretations of pathogenicity 311076 rs199534388 13:110862397-110862397 13:110210050-110210050
42 COL4A1 NM_001845.6(COL4A1):c.*1099G>ASNV Conflicting interpretations of pathogenicity 311003 rs193065628 13:110801611-110801611 13:110149264-110149264
43 COL4A1 NM_001845.6(COL4A1):c.280-12C>TSNV Conflicting interpretations of pathogenicity 311082 rs200121908 13:110864977-110864977 13:110212630-110212630
44 COL4A1 NM_001845.6(COL4A1):c.*265A>GSNV Conflicting interpretations of pathogenicity 311015 rs555157539 13:110802445-110802445 13:110150098-110150098
45 COL4A1 NM_001845.6(COL4A1):c.-20G>TSNV Uncertain significance 311085 rs886049965 13:110959394-110959394 13:110307047-110307047
46 COL4A1 NM_001845.6(COL4A1):c.*6C>GSNV Uncertain significance 311018 rs762512053 13:110802704-110802704 13:110150357-110150357
47 COL4A1 NM_001845.6(COL4A1):c.*1039A>GSNV Uncertain significance 311004 rs776016334 13:110801671-110801671 13:110149324-110149324
48 COL4A1 NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)SNV Uncertain significance 311054 rs750538499 13:110831700-110831700 13:110179353-110179353
49 COL4A1 NM_001845.6(COL4A1):c.2344+11G>ASNV Uncertain significance 311053 rs886049960 13:110831607-110831607 13:110179260-110179260
50 COL4A1 NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)SNV Uncertain significance 311028 rs372556002 13:110817321-110817321 13:110164974-110164974

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 11.03 COL4A2 COL4A1
2 10.95 COL4A2 COL4A1
3 10.79 COL4A2 COL4A1
4 10.56 COL4A2 COL4A1
5 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 oligosaccharyltransferase complex GO:0008250 8.96 TREX1 DDOST
2 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
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57 OMIM via Orphanet
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72 UMLS via Orphanet
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