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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0013362
 xref: ORDO:36383
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COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
RGD:11554173
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Signs and Symptoms 4688
        Eye Manifestations 4
          Eye Hemorrhage 2
            Retinal Hemorrhage 2
              COL4A1-related familial vascular leukoencephalopathy 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Eye Manifestations 4
                Eye Hemorrhage 2
                  Retinal Hemorrhage 2
                    COL4A1-related familial vascular leukoencephalopathy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.