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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:Cardiac amyloidosis
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Accession:HP:0030843 term browser browse the term
Definition:Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
Comment:The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis.
Synonyms:exact_synonym: Amyloid cardiomyopathy
 alt_id: HP:0200126
 xref: EFO:1001984;   SNOMEDCT_US:16573007;   UMLS:C0268407


show annotations for term's descendants           Sort by:
Cardiac amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 IAGP HPO PMID:8675681 PMID:9916936 PMID:10198255 MIM:620657 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO PMID:22693999 MIM:620659 ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G DSC1 desmocollin 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,129,236...31,162,856
Ensembl chr18:31,129,236...31,162,856 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG1 desmoglein 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG3 desmoglein 3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702 		JBrowse link
G DSG4 desmoglein 4 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912 		JBrowse link
G GSN gelsolin IAGP HPO PMID:7836945 MIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar
HPO		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of metabolism/homeostasis 6034
        Amyloidosis 166
          Cardiac amyloidosis 17
            Monoclonal light chain cardiac amyloidosis 0
            Transthyretin cardiac amyloidosis 0
Path 2
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the cardiovascular system 15812
        Abnormal cardiovascular system morphology 8672
          Abnormal heart morphology 2355
            Abnormal myocardium morphology 1180
              Cardiac amyloidosis 17
                Monoclonal light chain cardiac amyloidosis 0
                Transthyretin cardiac amyloidosis 0
paths to the root