MCID: TRN001
MIFTS: 62

Transthyretin Amyloidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases categories
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Summaries for Transthyretin Amyloidosis

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NIH Rare Diseases:42 Familial transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. amyloid deposits in the nerves of the peripheral nervous system result in a loss of sensation in the extremities (peripheral neuropathy). the autonomic nervous system (which controls involuntary body functions such as blood pressure, heart rate, and digestion) as well as the central nervous system (brain and spinal cord) may also be affected. other areas of the body affected include the heart, kidneys, eyes, and gastrointestinal tract. the age at which symptoms develop varies widely among affected individuals, and may be between ages 20 and 70 years. mutations in the ttr gene cause the condition. although it is inherited in an autosomal dominant pattern, not all people who have a ttr gene mutation will develop familial transthyretin amyloidosis. there are three major forms of familial transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. the neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. the leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. the cardiac form of transthyretin amyloidosis affects the heart. to read more about the different forms of familial transthyretin amyloidosis, click here. last updated: 7/1/2011

MalaCards based summary: Transthyretin Amyloidosis, also known as amyloidosis, hereditary, transthyretin-related, is related to amyloidosis and polyneuropathy, and has symptoms including An important gene associated with Transthyretin Amyloidosis is TTR (transthyretin), and among its related pathways are Diseases associated with visual transduction and Visual Cycle in Retinal Rods. The compounds thioflavin t and purpurin have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:8 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.

Genetics Home Reference:21 Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

Wikipedia:65 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

Description from OMIM:46 105210

GeneReviews summary for tfap

Aliases & Classifications for Transthyretin Amyloidosis

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Transthyretin Amyloidosis, Aliases & Descriptions:

Name: Transthyretin Amyloidosis 8 42 21
Amyloidosis, Hereditary, Transthyretin-Related 8 9 42 46 62
Familial Transthyretin Amyloidosis 8 19 42 20 62
Familial Amyloid Polyneuropathy 8 42 48
Type Ii Familial Amyloid Polyneuropathy 21 62
Type I Familial Amyloid Polyneuropathy 21 44
Transthyretin Amyloid Polyneuropathy 42 48
Familial Amyloid Polyneuropathies 44 62
Transthyretin Amyloid Neuropathy 42 48
Ttr Amyloid Neuropathy 42 48
Transthyretin-Related Familial Amyloid Cardiomyopathy 48
Transthyretin-Related Hereditary Amyloidosis 8
Familial Amyloid Neuropathy, Portuguese Type 62
 
Portuguese Type Familial Amyloid Neuropathy 21
Portuguese Polyneuritic Amyloidosis 21
Ttr-Related Amyloid Cardiomyopathy 48
Amyloid Polyneuropathy, Swiss Type 62
Amyloidosis Transthyretin Related 42
Transthyretin Amyloid Cardiopathy 48
Swiss Type Amyloid Polyneuropathy 21
Ttr-Related Cardiac Amyloidosis 48
Corino De Andrade's Disease 8
Familial Ttr Amyloidosis 19
Attr Cardiomyopathy 48
Ttr Amyloidosis 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial amyloid polyneuropathy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Adult
transthyretin-related familial amyloid cardiomyopathy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:0050638
OMIM46 105210
ICD10 via Orphanet26 E85.1, E85.0

Related Diseases for Transthyretin Amyloidosis

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Diseases related to Transthyretin Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.8RBP4, NPPB, SNCA, CLU, TTR
2polyneuropathy30.7TTR, RBP4
3pure autonomic failure30.6SNCA, TTR
4machado-joseph disease30.6ATXN1, SNCA
5spinocerebellar ataxia30.5SNCA, ATXN1
6amyloid neuropathy10.6
7carpal tunnel syndrome10.5
8lattice corneal dystrophy type ii10.5
9cerebral amyloid angiopathy10.4
10lattice corneal dystrophy10.4
11cerebritis10.4
12familial amyloidosis, finnish type10.4
13familial amyloid polyneuropathy type ii10.4
14familial amyloid cardiomyopathy10.4
15galactosemia10.4TTR
16finnish type amyloidosis10.3
17corneal dystrophy10.3
18familial amyloid polyneuropathy type 110.3
19neuropathy10.3
20hereditary amyloidosis10.3
21familial restrictive cardiomyopathy10.2TTR, NPPB
22retinal degeneration10.2CLU
23hypervitaminosis a10.2RBP4, TTR
24keratomalacia10.2TTR, RBP4
25diabetes mellitus10.2
26hepatitis c10.2
27neuronitis10.2
28retinitis10.2
29hereditary neuropathy with liability to pressure palsies10.2
30al amyloidosis10.2
31hereditary neuropathy with liability to pressure palsy10.2
32lattice corneal dystrophy type 110.2
33lattice corneal dystrophy type 3a10.2
34autonomic dysfunction10.2
35dysphagia10.2
36hereditary neuropathies10.2
37protein-energy malnutrition10.2TTR, RBP4
38multiple system atrophy10.2SNCA, ATXN1
39hepatitis10.1
40siderosis10.1
41autonomic neuropathy10.1
42dementia10.1
43diarrhea10.1
44mononeuropathy10.1
45peripheral neuropathy10.1
46ataxia10.1
47headache10.1
48endotheliitis10.1
49superficial siderosis10.1
50senile systemic amyloidosis10.1

Graphical network of the top 20 diseases related to Transthyretin Amyloidosis:



Diseases related to transthyretin amyloidosis

Symptoms for Transthyretin Amyloidosis

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Symptoms by clinical synopsis from OMIM:

105210

Clinical features from OMIM:

105210

HPO human phenotypes related to Transthyretin Amyloidosis:

(show all 31)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 hearing impairment HP:0000365
4 visual impairment HP:0000505
5 nystagmus HP:0000639
6 dementia HP:0000726
7 impotence HP:0000802
8 seizures HP:0001250
9 ataxia HP:0001251
10 spasticity HP:0001257
11 dysarthria HP:0001260
12 hyporeflexia HP:0001265
13 hemiparesis HP:0001269
14 polyneuropathy HP:0001271
15 muscle weakness HP:0001324
16 tremor HP:0001337
17 cardiomyopathy HP:0001638
18 cardiomegaly HP:0001640
19 diarrhea HP:0002014
20 constipation HP:0002019
21 headache HP:0002315
22 stroke-like episodes HP:0002401
23 dysautonomia HP:0002459
24 increased csf protein HP:0002922
25 peripheral axonal neuropathy HP:0003477
26 adult onset HP:0003581
27 progressive disorder HP:0003676
28 phenotypic variability HP:0003812
29 orthostatic hypotension due to autonomic dysfunction HP:0004926
30 amyloid deposition in the vitreous humor HP:0007841
31 paraplegia HP:0010550

Drugs & Therapeutics for Transthyretin Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Transthyretin Amyloidosis

Search NIH Clinical Center for Transthyretin Amyloidosis

Genetic Tests for Transthyretin Amyloidosis

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Genetic tests related to Transthyretin Amyloidosis:

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis20 TTR

Anatomical Context for Transthyretin Amyloidosis

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MalaCards organs/tissues related to Transthyretin Amyloidosis:

32
Heart, Kidney, Eye, Brain, Spinal cord, Liver, Bone, Testes, Endothelial

Animal Models for Transthyretin Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Transthyretin Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1NPPB, RBP4, SNCA, CLU
2MP:00053697.9NPPB, RBP4, CLU, ATXN1
3MP:00053767.3ATXN1, TTR, CLU, SNCA, RBP4

Publications for Transthyretin Amyloidosis

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Articles related to Transthyretin Amyloidosis:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Interleukin-1 signaling pathway as a therapeutic target in transthyretin amyloidosis. (24918964)
2014
2
Recent progress in the understanding and treatment of transthyretin amyloidosis. (24749898)
2014
3
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). (25367359)
2014
4
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs. (24601850)
2014
5
First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis. (25130926)
2014
6
Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review. (24601824)
2014
7
Molecular tweezers targeting transthyretin amyloidosis. (24459092)
2014
8
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. (24254376)
2013
9
Safety and efficacy of RNAi therapy for transthyretin amyloidosis. (23984729)
2013
10
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. (23193943)
2013
11
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. (23638719)
2013
12
Transthyretin amyloidosis with pulmonary involvement in a patient with monoclonal gammapathy. (24142783)
2013
13
Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. (23964755)
2013
14
Liver transplantation and transthyretin amyloidosis. (23169427)
2013
15
Why are some amyloidoses systemic? Does hepatic "chaperoning at a distance" prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis? (22362898)
2012
16
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
17
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles. (23185504)
2012
18
Pathogenesis of transthyretin amyloidosis. (22452550)
2012
19
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. (22580845)
2012
20
Cardiac transthyretin amyloidosis. (22888163)
2012
21
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. (23346293)
2012
22
Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. (22584381)
2012
23
Supercentenarians and transthyretin amyloidosis: the next frontier of human life extension. (22579241)
2012
24
Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. (22080763)
2011
25
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. (22080762)
2011
26
Systemic but asymptomatic transthyretin amyloidosis 8 years after domino liver transplantation. (20935325)
2011
27
Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. (19618439)
2009
28
Clusterin regulates transthyretin amyloidosis. (19664600)
2009
29
Extensive intracranial microbleeds in transthyretin amyloidosis. (19054206)
2008
30
Design of mechanism-based inhibitors of transthyretin amyloidosis: studies with biphenyl ethers and new structural templates. (17948976)
2007
31
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. (17968690)
2007
32
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. (17577687)
2007
33
Synthesis and evaluation of transthyretin amyloidosis inhibitors containing carborane pharmacophores. (17360344)
2007
34
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
35
Genistein, a natural product from soy, is a potent inhibitor of transthyretin amyloidosis. (16195386)
2005
36
Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. (15930432)
2005
37
Interactions amongst plasma retinol-binding protein, transthyretin and their ligands: implications in vitamin A homeostasis and transthyretin amyloidosis. (15588697)
2004
38
Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). (12832749)
2003
39
Hereditary transthyretin amyloidosis from a Scandinavian perspective. (12930231)
2003
40
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
41
Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report. (11966704)
2002
42
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. (11866053)
2002
43
Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. (14987380)
2002
44
The beta-slip: a novel concept in transthyretin amyloidosis. (11106758)
2000
45
Impact of age and amyloidosis on thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. (10524283)
1999
46
Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. (9767365)
1998
47
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. (9748569)
1998
48
Transthyretin amyloidosis: a new mutation associated with dementia. (9066351)
1997
49
Familial Transthyretin Amyloidosis (20301373)
1993
50
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. (2046936)
1991

Variations for Transthyretin Amyloidosis

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UniProtKB/Swiss-Prot genetic disease variations for Transthyretin Amyloidosis:

64 (show all 73)
id Symbol AA change Variation ID SNP ID
1TTRp.Cys30ArgVAR_007547
2TTRp.Asp38GluVAR_007548
3TTRp.Asp38GlyVAR_007549
4TTRp.Val40IleVAR_007550
5TTRp.Pro44SerVAR_007551rs11541790
6TTRp.Val50AlaVAR_007552
7TTRp.Val50LeuVAR_007553
8TTRp.Val50MetVAR_007554rs28933979
9TTRp.Phe53IleVAR_007555
10TTRp.Phe53LeuVAR_007556
11TTRp.Ala56ProVAR_007557
12TTRp.Glu62GlyVAR_007558rs11541796
13TTRp.Ala65AspVAR_007559
14TTRp.Ala65ThrVAR_007560
15TTRp.Gly67AlaVAR_007561
16TTRp.Gly67ArgVAR_007562
17TTRp.Gly67ValVAR_007563
18TTRp.Thr69AlaVAR_007564
19TTRp.Ser70IleVAR_007565
20TTRp.Ser70ArgVAR_007566
21TTRp.Ser72ProVAR_007567
22TTRp.Glu74GlyVAR_007568
23TTRp.Leu75ProVAR_007569
24TTRp.Leu78HisVAR_007570
25TTRp.Leu78ArgVAR_007571
26TTRp.Thr79LysVAR_007572
27TTRp.Thr80AlaVAR_007573
28TTRp.Glu81LysVAR_007574
29TTRp.Phe84LeuVAR_007575
30TTRp.Ile88LeuVAR_007576
31TTRp.Tyr89HisVAR_007577
32TTRp.Lys90AsnVAR_007578
33TTRp.Val91AlaVAR_007579
34TTRp.Ile93ValVAR_007580
35TTRp.Ser97TyrVAR_007582
36TTRp.Ile104AsnVAR_007583
37TTRp.Ile104SerVAR_007584
38TTRp.Glu109GlnVAR_007585
39TTRp.Ala111SerVAR_007587
40TTRp.Ala117GlyVAR_007588
41TTRp.Ile127ValVAR_007592
42TTRp.Leu131MetVAR_007594
43TTRp.Tyr134CysVAR_007595
44TTRp.Tyr136SerVAR_007596
45TTRp.Val142IleVAR_007600rs28933980
46TTRp.Val48MetVAR_010658
47TTRp.Glu109LysVAR_010659
48TTRp.Leu32ProVAR_038959
49TTRp.Ser43AsnVAR_038961
50TTRp.Val50GlyVAR_038962
51TTRp.Phe53ValVAR_038964
52TTRp.Arg54ThrVAR_038965
53TTRp.Lys55AsnVAR_038966
54TTRp.Asp58AlaVAR_038967
55TTRp.Asp58ValVAR_038968
56TTRp.Trp61LeuVAR_038969
57TTRp.Glu62AspVAR_038970rs11541796
58TTRp.Phe64SerVAR_038971
59TTRp.Ala65SerVAR_038972
60TTRp.Gly67GluVAR_038973
61TTRp.Thr69IleVAR_038974
62TTRp.Gly73GluVAR_038975
63TTRp.Glu74LysVAR_038976
64TTRp.Leu75GlnVAR_038977
65TTRp.Glu81GlyVAR_038978
66TTRp.Tyr98PheVAR_038979
67TTRp.Ile104ThrVAR_038980
68TTRp.Ala117SerVAR_038982
69TTRp.Thr126AsnVAR_038984
70TTRp.Ile127MetVAR_038985
71TTRp.Ala140SerVAR_038986
72TTRp.Val142AlaVAR_038987
73TTRp.Asn144SerVAR_038988

Clinvar genetic disease variations for Transthyretin Amyloidosis:

6 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1TTRNM_000371.3(TTR): c.148G> A (p.Val50Met)single nucleotide variantPathogenicrs28933979GRCh37Chr 18, 29172937: 29172937
2TTRNM_000371.3(TTR): c.157T> A (p.Phe53Ile)single nucleotide variantPathogenicrs121918068GRCh37Chr 18, 29172946: 29172946
3TTRNM_000371.3(TTR): c.401A> G (p.Tyr134Cys)single nucleotide variantPathogenicrs121918075GRCh37Chr 18, 29178595: 29178595
4TTRNM_000371.3(TTR): c.233T> A (p.Leu78His)single nucleotide variantPathogenicrs121918069GRCh37Chr 18, 29175115: 29175115
5TTRNM_000371.3(TTR): c.238A> G (p.Thr80Ala)single nucleotide variantPathogenicrs121918070GRCh37Chr 18, 29175120: 29175120
6TTRNM_000371.3(TTR): c.290C> A (p.Ser97Tyr)single nucleotide variantPathogenicrs121918071GRCh37Chr 18, 29175172: 29175172
7TTRNM_000371.3(TTR): c.311T> G (p.Ile104Ser)single nucleotide variantPathogenicrs121918072GRCh37Chr 18, 29175193: 29175193
8TTRNM_000371.3(TTR): c.391C> A (p.Leu131Met)single nucleotide variantPathogenicrs121918073GRCh37Chr 18, 29178585: 29178585
9TTRNM_000371.3(TTR): c.424G> A (p.Val142Ile)single nucleotide variantPathogenicrs76992529GRCh37Chr 18, 29178618: 29178618
10TTRNM_000371.3(TTR): c.328C> A (p.His110Asn)single nucleotide variantPathogenicrs121918074GRCh37Chr 18, 29175210: 29175210
11TTRNM_000371.3(TTR): c.185A> G (p.Glu62Gly)single nucleotide variantPathogenicrs11541796GRCh37Chr 18, 29172974: 29172974
12TTRNM_000371.3(TTR): c.210T> G (p.Ser70Arg)single nucleotide variantLikely pathogenicrs121918076GRCh37Chr 18, 29175092: 29175092
13TTRNM_000371.3(TTR): c.149T> C (p.Val50Ala)single nucleotide variantPathogenicrs79977247GRCh37Chr 18, 29172938: 29172938
14TTRNM_000371.3(TTR): c.166G> C (p.Ala56Pro)single nucleotide variantPathogenicrs121918077GRCh37Chr 18, 29172955: 29172955
15TTRNM_000371.3(TTR): c.233T> G (p.Leu78Arg)single nucleotide variantPathogenicrs121918069GRCh37Chr 18, 29175115: 29175115
16TTRNM_000371.3(TTR): c.199G> C (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
17TTRNM_000371.3(TTR): c.133G> A (p.Ala45Thr)single nucleotide variantPathogenicrs104894664GRCh37Chr 18, 29172922: 29172922
18TTRNM_000371.3(TTR): c.224T> C (p.Leu75Pro)single nucleotide variantPathogenicrs121918079GRCh37Chr 18, 29175106: 29175106
19TTRNM_000371.3(TTR): c.209G> T (p.Ser70Ile)single nucleotide variantPathogenicrs121918080GRCh37Chr 18, 29175091: 29175091
20TTRNM_000371.3(TTR): c.148G> C (p.Val50Leu)single nucleotide variantPathogenicrs28933979GRCh37Chr 18, 29172937: 29172937
21TTRNM_000371.3(TTR): c.205A> G (p.Thr69Ala)single nucleotide variantPathogenicrs121918081GRCh37Chr 18, 29175087: 29175087
22TTRNM_000371.3(TTR): c.325G> C (p.Glu109Gln)single nucleotide variantPathogenicrs121918082GRCh37Chr 18, 29175207: 29175207
23TTRNM_000371.3(TTR): c.270A> C (p.Lys90Asn)single nucleotide variantPathogenicrs267607160GRCh37Chr 18, 29175152: 29175152
24TTRNM_000371.3(TTR): c.88T> C (p.Cys30Arg)single nucleotide variantPathogenicrs121918083GRCh37Chr 18, 29172877: 29172877
25TTRNM_000371.3(TTR): c.272T> C (p.Val91Ala)single nucleotide variantPathogenicrs121918084GRCh37Chr 18, 29175154: 29175154
26TTRNM_000371.3(TTR): c.262A> T (p.Ile88Leu)single nucleotide variantPathogenicrs121918085GRCh37Chr 18, 29175144: 29175144
27TTRNM_000371.3(TTR): c.241G> A (p.Glu81Lys)single nucleotide variantPathogenicrs121918086GRCh37Chr 18, 29175123: 29175123
28TTRNM_000371.3(TTR): c.350C> G (p.Ala117Gly)single nucleotide variantPathogenicrs121918087GRCh37Chr 18, 29178544: 29178544
29TTRNM_000371.3(TTR): c.379A> G (p.Ile127Val)single nucleotide variantPathogenicrs121918089GRCh37Chr 18, 29178573: 29178573
30TTRNM_000371.3(TTR): c.200G> C (p.Gly67Ala)single nucleotide variantPathogenicrs121918090GRCh37Chr 18, 29172989: 29172989
31TTRNM_000371.3(TTR): c.250T> C (p.Phe84Leu)single nucleotide variantPathogenicrs121918091GRCh37Chr 18, 29175132: 29175132
32TTRNM_000371.3(TTR): c.118G> A (p.Val40Ile)single nucleotide variantPathogenicrs121918093GRCh37Chr 18, 29172907: 29172907
33TTRNM_000371.3(TTR): c.157T> C (p.Phe53Leu)single nucleotide variantPathogenicrs121918068GRCh37Chr 18, 29172946: 29172946
34TTRNM_000371.3(TTR): c.95T> C (p.Leu32Pro)single nucleotide variantPathogenicrs121918094GRCh37Chr 18, 29172884: 29172884
35TTRNM_000371.3(TTR): c.371G> A (p.Arg124His)single nucleotide variantPathogenicrs121918095GRCh37Chr 18, 29178565: 29178565
36TTRNM_000371.3(TTR): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
37TTRNM_000371.3(TTR): c.424_426delGTC (p.Val142del)deletionLikely pathogenicrs121918096GRCh37Chr 18, 29178618: 29178620
38TTRNM_000371.3(TTR): c.191T> C (p.Phe64Ser)single nucleotide variantPathogenicrs104894665GRCh37Chr 18, 29172980: 29172980
39TTRNM_000371.3(TTR): c.113A> G (p.Asp38Gly)single nucleotide variantPathogenicrs121918098GRCh37Chr 18, 29172902: 29172902
40TTRNM_000371.3(TTR): c.349G> T (p.Ala117Ser)single nucleotide variantPathogenicrs267607161GRCh37Chr 18, 29178543: 29178543
41TTRNM_000371.3(TTR): c.208A> C (p.Ser70Arg)single nucleotide variantLikely pathogenicrs386134269GRCh37Chr 18, 29175090: 29175090
42TTRNM_000371.3(TTR): c.210T> A (p.Ser70Arg)single nucleotide variantLikely pathogenicrs121918076GRCh37Chr 18, 29175092: 29175092

Expression for genes affiliated with Transthyretin Amyloidosis

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Expression patterns in normal tissues for genes affiliated with Transthyretin Amyloidosis

Search GEO for disease gene expression data for Transthyretin Amyloidosis.

Pathways for genes affiliated with Transthyretin Amyloidosis

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Compounds for genes affiliated with Transthyretin Amyloidosis

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Compounds related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1thioflavin t4410.0TTR, SNCA
2purpurin449.9RBP4, TTR
3retinyl palmitate44 2410.8TTR, RBP4
4guanidine hydrochloride449.8SNCA, TTR
5lutein449.8RBP4, TTR
6tocopherol449.8RBP4, TTR
7cellulose acetate449.8RBP4, TTR
8phosphorus449.8RBP4, TTR
9isoleucine449.7TTR, RBP4
10betacarotene449.7RBP4, TTR
11sodium dodecylsulfate449.6TTR, SNCA
12bicarbonate449.6SNCA, NPPB
13spermidine44 28 24 1112.5SNCA, CLU
14pioglitazone28 44 50 1112.5RBP4, NPPB
15levodopa44 1110.5SNCA, NPPB
16spermine28 44 24 1112.5CLU, SNCA
17norepinephrine44 24 1111.5SNCA, TTR, NPPB
18alpha tocopherol449.4SNCA, TTR, RBP4
19glutamine449.4ATXN1, SNCA, TTR
20valine449.4TTR, SNCA, RBP4
21triiodothyronine449.4TTR, RBP4, NPPB
22uric acid44 2410.4RBP4, NPPB, TTR
23vitamin-e449.3TTR, RBP4
24thyroxine44 2410.3NPPB, TTR, RBP4
25adenylate449.2SNCA, TTR, RBP4
26creatinine449.2RBP4, NPPB, TTR
27catecholamine449.2NPPB, SNCA
28homocysteine44 2410.1TTR, CLU, NPPB
29paraffin449.1CLU, SNCA, TTR
30vitamin d449.1NPPB, CLU, TTR
31folate449.0CLU, RBP4, TTR
32magnesium44 24 1111.0NPPB, SNCA, RBP4
33heparin44 28 24 1112.0SNCA, CLU, NPPB
34phospholipid448.9RBP4, SNCA, CLU
35iron44 249.9NPPB, RBP4, SNCA, TTR
36glucose448.8SNCA, TTR, NPPB, RBP4
37progesterone44 28 61 24 1112.7NPPB, CLU, RBP4
38cholesterol44 28 24 1111.6SNCA, TTR, CLU, RBP4
39steroid448.6CLU, NPPB, RBP4
40lactate448.5TTR, CLU, RBP4, NPPB
41dexamethasone44 50 28 1111.5NPPB, RBP4, CLU, TTR
42zinc44 249.5TTR, CLU, NPPB, RBP4
43fatty acid448.5NPPB, SNCA, RBP4, CLU
44estrogen448.5TTR, CLU, RBP4, NPPB
45oxygen44 249.4RBP4, SNCA, CLU, NPPB
46lipid448.4CLU, RBP4, NPPB, SNCA
47dopamine44 28 24 1111.1NPPB, RBP4, TTR, SNCA, CLU
48cysteine448.1TTR, CLU, SNCA, RBP4, NPPB
49serine448.1TTR, SNCA, CLU, RBP4, NPPB
50testosterone44 61 24 1110.6RBP4, ATXN1, TTR, CLU, SNCA, NPPB

GO Terms for genes affiliated with Transthyretin Amyloidosis

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Cellular components related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.6TTR, RBP4, NPPB
2extracellular spaceGO:0056158.1NPPB, RBP4, CLU, TTR
3extracellular regionGO:0055767.5NPPB, RBP4, SNCA, CLU, TTR

Biological processes related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:0425729.5RBP4, TTR
2regulation of excitatory postsynaptic membrane potentialGO:0600799.5SNCA, ATXN1
3phototransduction, visible lightGO:0076039.4RBP4, TTR
4adult locomotory behaviorGO:0083449.4ATXN1, SNCA
5retinoid metabolic processGO:0015239.1RBP4, TTR

Molecular functions related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.5NPPB, TTR
2identical protein bindingGO:0428028.8SNCA, TTR, ATXN1

Products for genes affiliated with Transthyretin Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Transthyretin Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet