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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:Amyloid Neuropathies
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Accession:DOID:9006478 term browser browse the term
Definition:Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
Synonyms:exact_synonym: Amyloid Neuropathy;   Amyloid Polyneuropathies;   Amyloid Polyneuropathy;   Secondary Amyloid Neuropathies;   Secondary Amyloid Neuropathy
 primary_id: MESH:D017772;   RDO:0000038
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Amyloid Neuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Familial Amyloid Polyneuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:2123470, PMID:3142462, PMID:4304452 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy 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 Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy 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 amyloid polyneuropathy 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 Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1351039, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1729893, PMID:1850190, PMID:1877623, PMID:1979335, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2590199, PMID:2646319, PMID:3030336, PMID:3229002, PMID:3627183, PMID:3934968, PMID:6736244, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8095073, PMID:8102146, PMID:8275943, PMID:8345041, PMID:8428916, PMID:8698351, PMID:8784093, PMID:9017939, PMID:9090525, PMID:9268242, PMID:9395311, PMID:9428731, PMID:10529370, PMID:10762172, PMID:10772944, PMID:10842715, PMID:11385707, PMID:11577236, PMID:11752419, PMID:11752443, PMID:12050338, PMID:12217248, PMID:12440486, PMID:12588803, PMID:12707074, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:15123043, PMID:15185492, PMID:15299606, PMID:15469931, PMID:15735344, PMID:15820680, PMID:16011990, PMID:16362527, PMID:16432141, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17251346, PMID:17431395, PMID:17503405, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18830126, PMID:18984591, PMID:19428025, PMID:19781421, PMID:20030258, PMID:20301373, PMID:20435197, PMID:20840742, PMID:21557933, PMID:21600538, PMID:22083004, PMID:22184092, PMID:22332999, PMID:22449240, PMID:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:24033266, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24184229, PMID:24474780, PMID:24517438, PMID:24633258, PMID:24818650, PMID:24945718, PMID:24955979, PMID:25225131, PMID:25311081, PMID:25395306, PMID:25551524, PMID:25741868, PMID:25743335, PMID:25819286, PMID:25846356, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27885756, PMID:28492532, PMID:29121657, PMID:15118671 RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149, PMID:1315718, PMID:1322359, PMID:1322360, PMID:1652889, PMID:1658654, PMID:1848334, PMID:2153578, PMID:2175344, PMID:2176481, PMID:2176550, PMID:4543600, PMID:6610849, PMID:6975851, PMID:7550233, PMID:7868127, PMID:8388189, PMID:11754099, PMID:25741868, PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395, PMID:12107443, PMID:15652848, PMID:28492532 NCBI chr 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:122200 OMIM
ClinVar
PMID:9054935, PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262, PMID:11004271, PMID:11024425, PMID:11923233, PMID:12400061, PMID:15790870, PMID:16809844, PMID:19337156, PMID:21462384, PMID:23884333, PMID:25741868, PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
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 term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
ClinVar Annotator: match by OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, 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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          Amyloid Neuropathies 20
            Amyloid Neuropathies, Primary (nonfamilial) 0
            Familial Amyloid Polyneuropathies + 19
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          amyloidosis 60
            Amyloid Neuropathies 20
              Amyloid Neuropathies, Primary (nonfamilial) 0
              Familial Amyloid Polyneuropathies + 19
paths to the root

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