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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
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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;   OMIM: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 Crebbp CREB binding protein ISO ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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 chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
G Ttr transthyretin ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, 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
Ensembl chr18:11,943,789...11,951,008
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        heart disease 3320
          transthyretin amyloidosis 8
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            Familial Amyloidosis 33
              Familial Amyloid Polyneuropathies 21
                transthyretin amyloidosis 8
paths to the root