BSVD
MCID: CL4009
MIFTS: 19

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 60 15
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome 12 60
Col4a1-Related Brain Small Vessel Disease with Hemorrhage 12 60
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:

60
col4a1-related familial vascular leukoencephalopathy
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090125
UMLS via Orphanet 75 C1843512 C2930808
Orphanet 60 ORPHA36383

Summaries for Col4a1-Related Familial Vascular Leukoencephalopathy

Disease Ontology : 12 A brain disease characterized by autosomal dominant inheritance of 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 heterozygous mutation in the COL4A1 gene 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 col4a1-related brain small-vessel disease. An important gene associated with Col4a1-Related Familial Vascular Leukoencephalopathy is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include brain, and related phenotype is respiratory system.

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:

# Related Disease Score Top Affiliating Genes
1 brain small vessel disease 1 with or without ocular anomalies 11.9
2 col4a1-related brain small-vessel disease 11.5
3 schizencephaly 9.9
4 myelodysplastic syndrome 9.7 MT-TL1 PURA
5 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6 COL4A1 TREX1

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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.8 COL4A1 PURA TREX1

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:

42
Brain

Publications for Col4a1-Related Familial Vascular Leukoencephalopathy

Articles related to Col4a1-Related Familial Vascular Leukoencephalopathy:

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

Variations for Col4a1-Related Familial Vascular Leukoencephalopathy

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

GO Terms for Col4a1-Related Familial Vascular Leukoencephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 PURA TREX1
2 single-stranded DNA binding GO:0003697 8.62 PURA TREX1

Sources for Col4a1-Related Familial Vascular Leukoencephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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