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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Vascular granular osmiophilic material deposition
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Accession:HP:0003657 term browser browse the term
Definition:Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.
Comment:In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane.
Synonyms:exact_synonym: Granular osmiophilic deposits (GROD) in cells
 alt_id: HP:0034379
 xref: UMLS:C1859833


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the cardiovascular system 0
        Abnormal cardiovascular system morphology 0
          Abnormal vascular morphology 0
            Vascular granular osmiophilic material deposition 0
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