MCID: TRN001
MIFTS: 49

Transthyretin Amyloidosis malady

Neuronal, Bone, Cardiovascular, Genetic categories

Summaries for Transthyretin Amyloidosis

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 skin, liver and spinal cord, and related mouse phenotypes are homeostasis/metabolism and muscle.

Wikipedia:64 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

Description from OMIM:47 105210

Aliases & Classifications for Transthyretin Amyloidosis

Sources:
8Disease Ontology, 21Genetics Home Reference, 9diseasecard, 47OMIM, 61UMLS, 49Orphanet, 45Novoseek, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Bone, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
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 47 61
type i familial amyloid polyneuropathy 21 45
transthyretin-related familial amyloid cardiomyopathy 49
familial amyloid neuropathy, portuguese type 61
portuguese type familial amyloid neuropathy 21
type ii familial amyloid polyneuropathy 21
transthyretin amyloid polyneuropathy 49
portuguese polyneuritic amyloidosis 21
amyloid polyneuropathy, swiss type 61
ttr-related amyloid cardiomyopathy 49
swiss type amyloid polyneuropathy 21
transthyretin amyloid cardiopathy 49
transthyretin amyloid neuropathy 49
familial amyloid polyneuropathy 49
ttr-related cardiac amyloidosis 49
ttr amyloid neuropathy 49
attr cardiomyopathy 49


External Ids:

Disease Ontology8 DOID:0050638
OMIM47 105210
ICD10 via Orphanet26 E85.1, E85.0
SNOMED-CT via Orphanet58 42295001

Related Diseases for Transthyretin Amyloidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 67)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.6TTR, CLU, SNCA, RBP4, NPPB
2familial transthyretin amyloidosis31.3TTR
3pure autonomic failure30.2SNCA, TTR
4spinocerebellar ataxia30.1ATXN1, SNCA
5hereditary amyloidosis10.7
6carpal tunnel syndrome10.5
7carpal tunnel syndrome, familial10.5
8lattice corneal dystrophy10.4
9familial amyloid cardiomyopathy10.4
10al amyloidosis10.4
11cerebral amyloid angiopathy10.3
12familial amyloid polyneuropathy type ii10.3
13finnish type amyloidosis10.3
14familial amyloidosis, finnish type10.3
15familial amyloid polyneuropathy type 110.3
16lattice corneal dystrophy type ii10.3
17amyloid neuropathy10.3
18senile systemic amyloidosis10.3
19machado-joseph disease10.2
20hepatitis d10.2
21n syndrome10.2
22hepatitis a10.2
23lattice corneal dystrophy type 110.2
24lattice corneal dystrophy type 3a10.2
25autonomic dysfunction10.2
26dysphagia10.2
27siderosis10.1
28autonomic neuropathy10.1
29ataxia10.1
30headache10.1
31amyloidosis, secondary10.1
32amyotrophic lateral sclerosis 2, juvenile10.1
33amyloidosis, renal10.1
34superficial siderosis10.1
35hypothyroidism10.0TTR
36myositis10.0SNCA
37cholestasis10.0RBP4
38blindness10.0CLU
39polycystic ovary syndrome10.0RBP4
40parkinson's disease10.0SNCA
41hepatitis10.0TTR
42obesity10.0RBP4
43keratomalacia10.0TTR, RBP4
44hypervitaminosis a10.0TTR, RBP4
45polyneuropathy10.0TTR, RBP4
46insulin resistance10.0TTR, RBP4
47protein-energy malnutrition10.0RBP4, TTR
48hypertension10.0NPPB
49liver cirrhosis10.0RBP4, TTR
50dementia10.0CLU, SNCA

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



Diseases related to transthyretin amyloidosis

Clinical Features for Transthyretin Amyloidosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

105210

Clinical synopsis from OMIM:

105210

Drugs & Therapeutics for Transthyretin Amyloidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Transthyretin Amyloidosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Transthyretin Amyloidosis:

33
Skin, Liver, Spinal cord, Brain, Kidney, Heart, Skeletal muscle, Thyroid, B cells, Endothelial

Animal Models for Transthyretin Amyloidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Transthyretin Amyloidosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9TTR, CLU, ATXN1, SNCA, RBP4
2MP:00053697.8CLU, ATXN1, RBP4, NPPB

Publications for Transthyretin Amyloidosis

Sources:
51PubMed
See all sources

Articles related to Transthyretin Amyloidosis:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. (24053266)
2013
2
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. (23193943)
2013
3
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. (23638719)
2013
4
(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. (23400849)
2013
5
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. (23438977)
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
Why are some amyloidoses systemic? Does hepatic &quot;chaperoning at a distance&quot; prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis? (22362898)
2012
9
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
10
Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. (22301727)
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
Diagnosis and therapeutic approaches to transthyretin amyloidosis. (22471980)
2012
13
Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg. (21843040)
2012
14
Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. (22551192)
2012
15
Neuroarthropathy secondary to transthyretin amyloidosis (ATTR V30M). (23189548)
2012
16
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
17
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. (22080762)
2011
18
Transthyretin-related vitreous amyloidosis in different endemic areas. (21077797)
2010
19
Clusterin regulates transthyretin amyloidosis. (19664600)
2009
20
Familial transthyretin amyloidosis]. (20143571)
2009
21
A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis. (18579156)
2008
22
Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity. (19065297)
2008
23
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. (17968690)
2007
24
Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation. (17873539)
2007
25
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
26
A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation. (16690499)
2006
27
Effect of nitric oxide in amyloid fibril formation on transthyretin-related amyloidosis. (16101296)
2005
28
Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies. (14755500)
2004
29
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. (15377697)
2004
30
Gene therapy: lessons learned from liver transplantation for transthyretin-amyloidosis. (15558840)
2004
31
D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? (12779320)
2003
32
Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. (14578606)
2003
33
Laboratory assessment of transthyretin amyloidosis. (12553428)
2002
34
A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92). (11230714)
2001
35
Anion shielding of electrostatic repulsions in transthyretin modulates stability and amyloidosis: insight into the chaotrope unfolding dichotomy. (11560493)
2001
36
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
37
Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate. (10691052)
1999
38
Transthyretin amyloidosis and superficial siderosis of the CNS. (10534258)
1999
39
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. (10071047)
1999
40
Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. (9767365)
1998
41
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
42
Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. (9818883)
1998
43
Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports. (9068139)
1997
44
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. (9017939)
1997
45
Two transthyretin mutations (Glu42Gly, His90Asn) in an Italian family with amyloidosis. (7923855)
1994
46
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. (1353040)
1992
47
Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). (2002274)
1991
48
Fibril in senile systemic amyloidosis is derived from normal transthyretin. (2320592)
1990
49
Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. (1978774)
1990
50
Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. (2646319)
1989

Genetic Variations for Transthyretin Amyloidosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Transthyretin Amyloidosis:

63 (show all 73)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN
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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

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1purpurin4510.0TTR, RBP4
2thioflavin t4510.0TTR, SNCA
3retinyl palmitate45 2410.9TTR, RBP4
4lutein459.9TTR, RBP4
5tocopherol459.9TTR, RBP4
6cellulose acetate459.9TTR, RBP4
7phosphorus459.8RBP4, TTR
8isoleucine459.8TTR, RBP4
9betacarotene459.7TTR, RBP4
10guanidine hydrochloride459.7TTR, SNCA
11spermidine45 29 11 2412.6CLU, SNCA
12spermine45 29 11 2412.6SNCA, CLU
13vitamin-e459.5TTR, RBP4
14alpha tocopherol459.4RBP4, SNCA, TTR
15valine459.4RBP4, SNCA, TTR
16glutamine459.4TTR, ATXN1, SNCA
17folate459.3TTR, CLU, RBP4
18cysteine459.2CLU, SNCA, RBP4
19paraffin459.2TTR, CLU, SNCA
20pioglitazone45 50 29 1112.2RBP4, NPPB
21triiodothyronine459.2NPPB, RBP4, TTR
22uric acid45 2410.2TTR, RBP4, NPPB
23adenylate459.1TTR, SNCA, RBP4
24bicarbonate459.1NPPB, SNCA
25phospholipid459.1RBP4, SNCA, CLU
26thyroxine45 2410.1NPPB, RBP4, TTR
27norepinephrine45 11 2411.1TTR, SNCA, NPPB
28homocysteine45 2410.0TTR, CLU, NPPB
29vitamin d459.0TTR, CLU, NPPB
30creatinine458.9TTR, RBP4, NPPB
31levodopa45 119.8SNCA, NPPB
32cholesterol45 29 11 2411.8RBP4, SNCA, CLU, TTR
33heparin45 29 11 2411.7NPPB, SNCA, CLU
34iron45 249.6NPPB, RBP4, SNCA, TTR
35glucose458.5NPPB, RBP4, SNCA, TTR
36lactate458.5TTR, CLU, RBP4, NPPB
37dexamethasone45 50 29 1111.5NPPB, RBP4, CLU, TTR
38zinc45 249.5NPPB, RBP4, CLU, TTR
39estrogen458.5NPPB, RBP4, CLU, TTR
40fatty acid458.4NPPB, RBP4, SNCA, CLU
41progesterone45 60 29 11 2412.4CLU, RBP4, NPPB
42oxygen45 249.4NPPB, RBP4, SNCA, CLU
43lipid458.3CLU, SNCA, RBP4, NPPB
44dopamine45 29 11 2411.0NPPB, RBP4, SNCA, CLU, TTR
45serine458.0TTR, CLU, SNCA, RBP4, NPPB
46testosterone45 60 11 2410.6TTR, CLU, ATXN1, SNCA, RBP4, NPPB

GO Terms for genes affiliated with Transthyretin Amyloidosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Transthyretin Amyloidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet