MCID: TRN001
MIFTS: 64

Transthyretin Amyloidosis malady

Neuronal diseases, Bone diseases, Cardiovascular diseases, Genetic diseases categories

Summaries for Transthyretin Amyloidosis

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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.

MalaCards: Transthyretin Amyloidosis, also known as amyloidosis, hereditary, transthyretin-related, is related to amyloidosis and familial transthyretin amyloidosis. An important gene associated with Transthyretin Amyloidosis is TTR (transthyretin), and among its related pathways are Visual phototransduction and Visual Cycle in Retinal Rods. The compounds purpurin and thioflavin t have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related mouse phenotypes are homeostasis/metabolism and muscle.

Wikipedia:63 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

Description from OMIM:46 105210

Aliases & Classifications for Transthyretin Amyloidosis

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8Disease Ontology, 21Genetics Home Reference, 9diseasecard, 46OMIM, 60UMLS, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
transthyretin amyloid polyneuropathy:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Adult
transthyretin-related familial amyloid cardiomyopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

transthyretin amyloidosis 8 21
amyloidosis, hereditary, transthyretin-related 8 9 46 60
type i familial amyloid polyneuropathy 21 44
transthyretin-related familial amyloid cardiomyopathy 48
familial amyloid neuropathy, portuguese type 60
portuguese type familial amyloid neuropathy 21
type ii familial amyloid polyneuropathy 21
transthyretin amyloid polyneuropathy 48
portuguese polyneuritic amyloidosis 21
amyloid polyneuropathy, swiss type 60
ttr-related amyloid cardiomyopathy 48
swiss type amyloid polyneuropathy 21
transthyretin amyloid cardiopathy 48
transthyretin amyloid neuropathy 48
familial amyloid polyneuropathy 48
ttr-related cardiac amyloidosis 48
ttr amyloid neuropathy 48
attr cardiomyopathy 48


External Ids:

Disease Ontology8 DOID:0050638
OMIM46 105210
ICD10 via Orphanet26 E85.1, E85.0
SNOMED-CT via Orphanet57 42295001

Related Diseases for Transthyretin Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases in the Transthyretin Amyloidosis family:

Familial Transthyretin Amyloidosis

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.5TTR, CLU, SNCA, RBP4, NPPB
2familial transthyretin amyloidosis31.3TTR
3polyneuropathy30.4TTR, RBP4
4diabetes mellitus30.2RBP4, NPPB
5hepatitis30.1TTR
6spinocerebellar ataxia30.1ATXN1, SNCA
7dementia30.1CLU, SNCA
8carpal tunnel syndrome10.4
9lattice corneal dystrophy10.4
10cerebritis10.3
11cerebral amyloid angiopathy10.3
12corneal dystrophy10.3
13familial amyloid polyneuropathy type ii10.3
14finnish type amyloidosis10.3
15familial amyloidosis, finnish type10.3
16familial amyloid polyneuropathy type 110.3
17lattice corneal dystrophy type ii10.3
18neuropathy10.2
19hereditary amyloidosis10.2
20machado-joseph disease10.1
21hepatitis c10.1
22diabetic polyneuropathy10.1
23neuronitis10.1
24hereditary neuropathy with liability to pressure palsies10.1
25lattice corneal dystrophy type 110.1
26lattice corneal dystrophy type 3a10.1
27siderosis10.1
28hepatitis a10.1
29autonomic neuropathy10.1
30diarrhea10.1
31liver disease10.1
32mononeuropathy10.1
33peripheral neuropathy10.1
34amyotrophic lateral sclerosis 2, juvenile10.1
35senile systemic amyloidosis10.1
36hypothyroidism10.0TTR
37myositis10.0SNCA
38cholestasis10.0RBP4
39blindness10.0CLU
40polycystic ovary syndrome10.0RBP4
41parkinson's disease10.0SNCA
42obesity10.0RBP4
43keratomalacia10.0TTR, RBP4
44hypervitaminosis a10.0TTR, RBP4
45pure autonomic failure10.0SNCA, TTR
46insulin resistance10.0TTR, RBP4
47protein-energy malnutrition10.0RBP4, TTR
48hypertension10.0NPPB
49liver cirrhosis10.0RBP4, TTR
50spinocerebellar ataxia type 310.0ATXN1, SNCA

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



Diseases related to transthyretin amyloidosis

Clinical Features for Transthyretin Amyloidosis

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46OMIM
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Clinical features from OMIM:

105210

Clinical synopsis from OMIM:

105210

Drugs & Therapeutics for Transthyretin Amyloidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Transthyretin Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Transthyretin Amyloidosis

Search NIH Clinical Center for Transthyretin Amyloidosis

Search CenterWatch for Transthyretin Amyloidosis

Genetic Tests for Transthyretin Amyloidosis

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Anatomical Context for Transthyretin Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Transthyretin Amyloidosis:

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

Animal Models for Transthyretin Amyloidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Transthyretin Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9TTR, CLU, ATXN1, SNCA, RBP4
2MP:00053697.8CLU, ATXN1, RBP4, NPPB

Publications for Transthyretin Amyloidosis

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50PubMed
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Articles related to Transthyretin Amyloidosis:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. (24053266)
2013
2
Liver transplantation and transthyretin amyloidosis. (23169427)
2013
3
Characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock. (24070596)
2013
4
THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. (23193944)
2013
5
Nuclear tracers for transthyretin cardiac amyloidosis: time to bone up? (23512778)
2013
6
Activated microglia mediate synapse loss and short-term memory deficits in a mouse model of transthyretin-related oculoleptomeningeal amyloidosis. (24008733)
2013
7
Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis. (24286032)
2013
8
Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis. (23225390)
2012
9
Cardiac transthyretin amyloidosis. (22888163)
2012
10
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. (23346293)
2012
11
Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review. (22149423)
2012
12
Amyloid fibril composition as a predictor of development of cardiomyopathy after liver transplantation for hereditary transthyretin amyloidosis. (22395298)
2012
13
Transthyretin (TTR) cardiac amyloidosis. (22949539)
2012
14
99mTc DPD is the preferential bone tracer for diagnosis of cardiac transthyretin amyloidosis. (22785530)
2012
15
Vitreal deposits in Val71Ala transthyretin amyloidosis. (22276564)
2012
16
Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. (22080763)
2011
17
Systemic but asymptomatic transthyretin amyloidosis 8 years after domino liver transplantation. (20935325)
2011
18
Characterization of end-stage renal disease after liver transplantation in transthyretin amyloidosis (ATTR V30M). (21335185)
2011
19
Transthyretin-related vitreous amyloidosis in different endemic areas. (21077797)
2010
20
Clusterin regulates transthyretin amyloidosis. (19664600)
2009
21
Extensive intracranial microbleeds in transthyretin amyloidosis. (19054206)
2008
22
Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. (18318779)
2008
23
Specific pathogen free conditions prevent transthyretin amyloidosis in mouse models. (18357510)
2008
24
Misfolded transthyretin causes behavioral changes in a Drosophila model for transthyretin-associated amyloidosis. (17714186)
2007
25
Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation. (17873539)
2007
26
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
27
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. (15377697)
2004
28
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
29
Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. (14578606)
2003
30
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
31
Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. (14987380)
2002
32
Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis. (11310831)
2001
33
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. (11752443)
2001
34
A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92). (11230714)
2001
35
Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis. (10854214)
2000
36
Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. (11132095)
2000
37
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
38
Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele. (10762172)
2000
39
Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G). (8579098)
1996
40
Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. (7474944)
1995
41
Transthyretin Ser 6 gene frequency in individuals without amyloidosis. (7868124)
1995
42
Two transthyretin mutations (Glu42Gly, His90Asn) in an Italian family with amyloidosis. (7923855)
1994
43
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. (7951260)
1994
44
Familial Transthyretin Amyloidosis (20301373)
1993
45
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. (1520336)
1992
46
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (1301926)
1992
47
Transthyretin Leu 68 in a form of cardiac amyloidosis. (1786038)
1991
48
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. (2046936)
1991
49
The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis. (2015890)
1991
50
Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. (1978774)
1990

Genetic Variations for Transthyretin Amyloidosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Transthyretin Amyloidosis:

62 (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

Expression for genes affiliated with Transthyretin Amyloidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 51QIAGEN
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Pathways related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5TTR, RBP4
29.5TTR, RBP4
3
Hide members
9.5TTR, SNCA

Compounds for genes affiliated with Transthyretin Amyloidosis

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1purpurin4410.0TTR, RBP4
2thioflavin t4410.0TTR, SNCA
3retinyl palmitate44 2410.9TTR, RBP4
4lutein449.9TTR, RBP4
5tocopherol449.9TTR, RBP4
6cellulose acetate449.9TTR, RBP4
7phosphorus449.8RBP4, TTR
8isoleucine449.8TTR, RBP4
9betacarotene449.7TTR, RBP4
10guanidine hydrochloride449.7TTR, SNCA
11spermidine44 28 11 2412.6CLU, SNCA
12spermine44 28 11 2412.6SNCA, CLU
13vitamin-e449.5TTR, RBP4
14alpha tocopherol449.4RBP4, SNCA, TTR
15valine449.4RBP4, SNCA, TTR
16glutamine449.4TTR, ATXN1, SNCA
17folate449.3TTR, CLU, RBP4
18cysteine449.2CLU, SNCA, RBP4
19paraffin449.2TTR, CLU, SNCA
20pioglitazone44 49 28 1112.2RBP4, NPPB
21triiodothyronine449.2NPPB, RBP4, TTR
22uric acid44 2410.2TTR, RBP4, NPPB
23adenylate449.1TTR, SNCA, RBP4
24bicarbonate449.1NPPB, SNCA
25phospholipid449.1RBP4, SNCA, CLU
26thyroxine44 2410.1NPPB, RBP4, TTR
27norepinephrine44 11 2411.1TTR, SNCA, NPPB
28homocysteine44 2410.0TTR, CLU, NPPB
29vitamin d449.0TTR, CLU, NPPB
30creatinine448.9TTR, RBP4, NPPB
31levodopa44 119.8SNCA, NPPB
32cholesterol44 28 11 2411.8RBP4, SNCA, CLU, TTR
33heparin44 28 11 2411.7NPPB, SNCA, CLU
34iron44 249.6NPPB, RBP4, SNCA, TTR
35glucose448.5NPPB, RBP4, SNCA, TTR
36lactate448.5TTR, CLU, RBP4, NPPB
37dexamethasone44 49 28 1111.5NPPB, RBP4, CLU, TTR
38zinc44 249.5NPPB, RBP4, CLU, TTR
39estrogen448.5NPPB, RBP4, CLU, TTR
40fatty acid448.4NPPB, RBP4, SNCA, CLU
41progesterone44 59 28 11 2412.4CLU, RBP4, NPPB
42oxygen44 249.4NPPB, RBP4, SNCA, CLU
43lipid448.3CLU, SNCA, RBP4, NPPB
44dopamine44 28 11 2411.0NPPB, RBP4, SNCA, CLU, TTR
45serine448.0TTR, CLU, SNCA, RBP4, NPPB
46testosterone44 59 11 2410.6TTR, CLU, ATXN1, SNCA, RBP4, NPPB

GO Terms for genes affiliated with Transthyretin Amyloidosis

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16Gene Ontology
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Cellular components related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1TTR, CLU, RBP4, NPPB
2extracellular regionGO:0055767.3TTR, CLU, SNCA, RBP4, NPPB

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

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:0425729.6TTR, RBP4
2phototransduction, visible lightGO:0076039.5TTR, RBP4
3regulation of excitatory postsynaptic membrane potentialGO:0600799.5ATXN1, SNCA
4adult locomotory behaviorGO:0083449.4SNCA, ATXN1
5retinoid metabolic processGO:0015239.2TTR, RBP4

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.2TTR, NPPB
2identical protein bindingGO:0428028.8TTR, ATXN1, SNCA

Products for genes affiliated with Transthyretin Amyloidosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet