Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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: 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: Amyloidosis, Hereditary, Transthyretin-Related, Modifier Of
 primary_id: MESH:C567782
 alt_id: DOID:0050761;   OMIM:105210
 xref: ORDO:85447
For additional species annotation, visit the Alliance of Genome Resources.


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 Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
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, PMID:22763267, PMID:22995991, PMID:23217326, PMID:23233322, PMID:23820649, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26332594, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:24033266, PMID:24510615, PMID:25741868, PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:25351510, PMID:25741868, PMID:28492532, PMID:28600387 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11815426, PMID:12860912, PMID:15524171, PMID:15607392, PMID:18175163, PMID:21310275, PMID:23967088, PMID:24033266, PMID:24510615, PMID:25324519, PMID:25741868, PMID:25940119, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM
ClinVar
CTD
PMID:192115, PMID:1301926, PMID:1330202, PMID:1335038, PMID:1350083, PMID:1351039, PMID:1353008, PMID:1353861, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1362222, PMID:1436517, PMID:1490495, PMID:1520326, PMID:1520336, PMID:1544214, PMID:1547960, PMID:1570831, PMID:1618497, PMID:1626556, PMID:1626570, PMID:1644201, PMID:1656975, PMID:1664269, PMID:1729888, PMID:1729893, PMID:1734866, PMID:1786038, PMID:1850190, PMID:1850191, PMID:1867256, PMID:1877623, PMID:1932142, PMID:1977686, PMID:1979335, PMID:1981182, PMID:1992765, PMID:1997217, PMID:2002274, PMID:2046936, PMID:2063870, PMID:2122246, PMID:2161654, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2360796, PMID:2363717, PMID:2510740, PMID:2564060, PMID:2590199, PMID:2613237, PMID:2624269, PMID:2646319, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2877582, PMID:2891727, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3178532, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3627183, PMID:3676699, PMID:3722385, PMID:3760189, PMID:3908483, PMID:3934968, PMID:4079954, PMID:4138132, PMID:4354899, PMID:4884226, PMID:4952599, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6099706, PMID:6100724, PMID:6168726, PMID:6208668, PMID:6300852, PMID:6310716, PMID:6311926, PMID:6487335, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7018469, PMID:7389759, PMID:7417777, PMID:7599630, PMID:7608709, PMID:7643356, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7910950, PMID:7914929, PMID:7923855, PMID:7951260, PMID:8038017, PMID:8064809, PMID:8081397, PMID:8095073, PMID:8095301, PMID:8095302, PMID:8100581, PMID:8102146, PMID:8133316, PMID:8194279, PMID:8218290, PMID:8257997, PMID:8275943, PMID:8345041, PMID:8352764, PMID:8406434, PMID:8428916, PMID:8509786, PMID:8563114, PMID:8579098, PMID:8692810, PMID:8698351, PMID:8721565, PMID:8778271, PMID:8784093, PMID:8857732, PMID:8960746, PMID:8990019, PMID:9017939, PMID:9017946, PMID:9066351, PMID:9090525, PMID:9196903, PMID:9215058, PMID:9268242, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9547003, PMID:9605286, PMID:9701270, PMID:9717013, PMID:9748014, PMID:9748569, PMID:9771673, PMID:9798666, PMID:9818054, PMID:9818883, PMID:9843084, PMID:10071047, PMID:10439117, PMID:10453736, PMID:10465115, PMID:10488818, PMID:10506096, PMID:10529370, PMID:10611949, PMID:10611950, PMID:10627135, PMID:10762172, PMID:10772944, PMID:10842705, PMID:10842715, PMID:10842718, PMID:10845569, PMID:10923048, PMID:11261421, PMID:11385707, PMID:11445644, PMID:11577236, PMID:11709003, PMID:11752419, PMID:11752443, PMID:11812437, PMID:11866053, PMID:11940682, PMID:12000195, PMID:12000196, PMID:12039669, PMID:12050338, PMID:12217248, PMID:12433265, PMID:12440483, PMID:12440486, PMID:12557757, PMID:12557758, PMID:12566023, PMID:12588803, PMID:12617705, PMID:12771253, PMID:12779320, PMID:12874413, PMID:12874414, PMID:12874858, PMID:13367520, PMID:13593935, PMID:13894830, PMID:14404854, PMID:14569203, PMID:14627687, PMID:14640030, PMID:14640031, PMID:14673473, PMID:14695346, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15110620, PMID:15123043, PMID:15185492, PMID:15205369, PMID:15217993, PMID:15249622, PMID:15299606, PMID:15377697, PMID:15478468, PMID:15523922, PMID:15645642, PMID:15735344, PMID:15793844, PMID:15820680, PMID:15930086, PMID:16011990, PMID:16076613, PMID:16194874, PMID:16194875, PMID:16357452, PMID:16362527, PMID:16399646, PMID:16432141, PMID:16448460, PMID:16530227, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17028027, PMID:17143887, PMID:17251346, PMID:17338921, PMID:17431395, PMID:17431450, PMID:17453626, PMID:17503405, PMID:17554795, PMID:17577688, PMID:17698792, PMID:17968687, PMID:18022643, PMID:18074076, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18460047, PMID:18606975, PMID:18830126, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19291509, PMID:19364362, PMID:19372189, PMID:19428025, PMID:19467548, PMID:19491989, PMID:19602727, PMID:19644733, PMID:19709674, PMID:19752327, PMID:19781421, PMID:19808383, PMID:19922332, PMID:20209591, PMID:20301373, PMID:20435197, PMID:20558946, PMID:20660862, PMID:20686303, PMID:20697105, PMID:20714957, PMID:20840742, PMID:20937937, PMID:21135536, PMID:21406045, PMID:21520333, PMID:21540676, PMID:21550574, PMID:21557933, PMID:21600538, PMID:21692911, PMID:21843040, PMID:21992998, PMID:22083004, PMID:22106346, PMID:22149423, PMID:22184092, PMID:22187309, PMID:22209138, PMID:22332999, PMID:22382560, PMID:22412233, PMID:22449240, PMID:22531659, PMID:22551192, PMID:22580845, PMID:22592564, PMID:22620962, PMID:22745357, PMID:22747647, PMID:22877808, PMID:22928869, PMID:22973891, PMID:22995991, PMID:23080516, PMID:23126592, PMID:23279339, PMID:23317988, PMID:23346293, PMID:23387326, PMID:23414091, PMID:23438977, PMID:23523753, PMID:23580146, PMID:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24053266, PMID:24061768, PMID:24073013, PMID:24101130, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, PMID:24358189, PMID:24412190, PMID:24455802, PMID:24474780, PMID:24480837, PMID:24517438, PMID:24555660, PMID:24601850, PMID:24633258, PMID:24650283, PMID:24664531, PMID:24767411, PMID:24779883, PMID:24800914, PMID:24818650, PMID:24945718, PMID:24953234, PMID:24955979, PMID:25044787, PMID:25211232, PMID:25225131, PMID:25291558, PMID:25311081, PMID:25395306, PMID:25412400, PMID:25526974, PMID:25550818, PMID:25551524, PMID:25644864, PMID:25721874, PMID:25741868, PMID:25743335, PMID:25743445, PMID:25819286, PMID:25828388, PMID:25846356, PMID:25857202, PMID:25973863, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26123279, PMID:26123280, PMID:26156087, PMID:26208957, PMID:26342004, PMID:26369527, PMID:26428663, PMID:26467025, PMID:26521788, PMID:26529114, PMID:26537620, PMID:26656838, PMID:26894299, PMID:26986100, PMID:27025994, PMID:27066555, PMID:27238058, PMID:27249223, PMID:27273296, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27584576, PMID:27646980, PMID:27724962, PMID:27793437, PMID:27858761, PMID:27859927, PMID:27885756, PMID:28272196, PMID:28460244, PMID:28492532, PMID:28635949, PMID:28790153, PMID:28798025, PMID:28911993, PMID:29121657, PMID:29246775, PMID:29455155, PMID:29524093, PMID:29941560, PMID:30311386, PMID:30685801, PMID:31139689, PMID:31371117, PMID:32393063 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          amyloidosis 60
            transthyretin amyloidosis 12
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                transthyretin amyloidosis 12
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.