BSVD
MCID: CL4009
MIFTS: 23

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 59 15
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome 12 59
Col4a1-Related Brain Small Vessel Disease with Hemorrhage 12 59
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:

59
col4a1-related familial vascular leukoencephalopathy
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090125
UMLS via Orphanet 73 C1843512 C2930808
Orphanet 59 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 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease 1 with or without ocular anomalies 12.4
2 col4a1-related brain small-vessel disease 11.6
3 epilepsy 10.0
4 migraine with or without aura 1 9.9
5 arterial tortuosity syndrome 9.9
6 schizencephaly 9.9
7 porencephaly 9.9
8 migraine with aura 9.9
9 hemiplegia 9.9
10 encephalomalacia 9.9
11 myocarditis 9.9
12 placental abruption 9.9
13 hereditary vascular retinopathy 9.9
14 cerebral atrophy 9.9
15 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8 TREX1 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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 COL4A1 KCNJ13 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:

41
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. 38
27134376 2016
2
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. 38
26289840 2015
3
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. 38
23560019 2012
4
Migraine and small vessel diseases. 38
22644171 2012
5
Prevalence of neurological disorders in children less than 10 years of age in RS Pura town of Jammu and Kashmir. 38
22408654 2011
6
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. 38
21157337 2011
7
Cognitive impairment of vascular origin: neuropathology of cognitive impairment of vascular origin. 38
20846674 2010
8
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. 38
20558831 2010
9
Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases. 38
20135578 2009
10
COL4A1-Related Disorders 38
20301768 2009
11
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 38
17379824 2007
12
Clinicopathologic findings in patients with infantile hemiparesis and epilepsy. 38
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. 38
12744382 2003
14
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. 38
12525718 2003
15
Epilepsy associated with infantile hemiparesis: predictors of long-term evolution. 38
11226723 2001
16
Residual sensorimotor functions in a patient after right-sided hemispherectomy. 38
1902915 1991
17
Myocarditis and acute infantile hemiparesis. Case report. 38
6543858 1984
18
[Effect of early rehabilitation treatment of acute infantile hemiparesis]. 38
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)]. 38
14468608 1962

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 TREX1 PURA
2 single-stranded DNA binding GO:0003697 8.62 TREX1 PURA

Sources for Col4a1-Related Familial Vascular Leukoencephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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