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Term:COL4A1-related familial vascular leukoencephalopathy
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Accession:DOID:0090125 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES;   BSVD;   Brain Small Vessel Disease With Axenfeld-Rieger Anomaly;   Brain Small Vessel Disease with Hemorrhage;   COL4A1-related brain small vessel disease with hemorrhage;   COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome;   Col4a1-Related Brain Small-Vessel Disease;   Infantile Hemiparesis;   Leukoencephalopathy With Axenfeld-Rieger Anomaly;   Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant;   autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy;   brain small vessel disease with Axenfeld-Riegar anomaly;   leukoencephalopathy with Axenfeld-Riegar anomaly
 primary_id: MESH:C564372;   RDO:0013362
 alt_id: OMIM:607595
 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
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          COL4A1-related familial vascular leukoencephalopathy 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              Eye Manifestations 4
                Eye Hemorrhage 2
                  Retinal Hemorrhage 2
                    COL4A1-related familial vascular leukoencephalopathy 2
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