Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:transthyretin amyloidosis
go back to main search page
Accession:DOID:0050638 term browser browse the term
Definition:An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)
Synonyms:exact_synonym: ATTR amyloidosis;   ATTRm amyloidosis;   Corino de Andrade's disease;   TTR amyloidosis;   amyloidogenic transthyretin amyloidosis;   familial transthyretin amyloidosis;   familial transthyretin cardiac amyloidosis;   hereditary amyloidosis, transthyretin-related;   paramyloidosis
 narrow_synonym: AMYLOID POLYNEUROPATHY, FAMILIAL;   AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED;   amyloid cardiomyopathy, transthyretin-related;   leptomeningeal FAP amyloidosis, transthyretin-related
 related_synonym: hereditary amyloidosis, transthyretin-related, modifier of
 primary_id: MESH:C567782
 alt_id: DOID:0050761;   MIM:105210
 xref: EFO:0004129;   GARD:656;   ICD10CM:E85.82;   ORDO:85447



show annotations for term's descendants           Sort by:
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:8665505 PMID:9150150 PMID:9585613 PMID:9667259 PMID:10699917 More... NCBI chr12:4,895,092...4,939,340 JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,499,936...11,556,801 JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,725,466...11,757,591 JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,674,687...11,705,383 JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:12,121,287...12,179,590 JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,799,355...11,830,988 JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:28492532 NCBI chr18:11,720,844...11,757,927 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:97,550,974...97,569,216 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 8:119,617,077...119,623,215 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:98,165,974...98,231,916 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:78,342,571...78,346,255 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... NCBI chr10:54,798,871...54,810,300 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Transthyretin amyloidosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:82,059,648...82,332,130 JBrowse link
G Ttr transthyretin ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:105210
ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis
OMIM
CTD
MouseDO
ClinVar
PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr18:11,941,791...11,951,008 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      cardiovascular system disease 5541
        heart disease 3477
          transthyretin amyloidosis 14
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10931
            autosomal genetic disease 10418
              autosomal dominant disease 6762
                transthyretin amyloidosis 14
paths to the root