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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:COL4A1-related familial vascular leukoencephalopathy
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Accession:DOID:0090125 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: BSVD;   BSVD1;   COL4A1-related brain small vessel disease with hemorrhage;   COL4A1-related brain small-vessel disease;   COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome;   autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy;   brain small vessel disease 1 with or without ocular anomalies;   brain small vessel disease with Axenfeld-Riegar anomaly;   brain small vessel disease with Axenfeld-Rieger anomaly;   brain small vessel disease with hemorrhage;   brain small vessel disease with or without ocular anomalies;   infantile hemiparesis;   infantile hemiplegia with porencephaly;   leukoencephalopathy with Axenfeld-Riegar anomaly;   leukoencephalopathy with Axenfeld-Rieger anomaly;   retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
 related_synonym: porencephaly 1;   porencephaly type 1;   porencephaly type 1, autosomal dominant
 primary_id: MESH:C564372
 alt_id: OMIM:175780
 xref: ORDO:36383
For additional species annotation, visit the Alliance of Genome Resources.


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COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by OMIM:607595
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
PMID:6428250, PMID:7257746, PMID:15023374, PMID:15136694, PMID:15905400, PMID:16107487, PMID:16598045, PMID:17696175, PMID:17938367, PMID:18077766, PMID:19194877, PMID:19477666, PMID:20385946, PMID:20733150, PMID:21527998, PMID:21625620, PMID:22102590, PMID:22522439, PMID:22574627, PMID:23065703, PMID:23225343, PMID:23394911, PMID:24088041, PMID:24628545, PMID:25326635, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28017902, PMID:28492532, PMID:30311386, PMID:32042920, PMID:32818659 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868, PMID:26467025 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        Eye Hemorrhage 2
          Retinal Hemorrhage 2
            COL4A1-related familial vascular leukoencephalopathy 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Manifestations 4
              Eye Hemorrhage 2
                Retinal Hemorrhage 2
                  COL4A1-related familial vascular leukoencephalopathy 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.