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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
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    sensory system disease 4971
      eye disease 2387
        Eye Hemorrhage 2
          Retinal Hemorrhage 2
            COL4A1-related familial vascular leukoencephalopathy 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          eye disease 2387
            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.