MCID: WLD008
MIFTS: 43

Wild-Type Amyloidosis

Categories: Bone diseases, Cardiovascular diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Wild-Type Amyloidosis

MalaCards integrated aliases for Wild-Type Amyloidosis:

Name: Wild-Type Amyloidosis 11 14
Senile Systemic Amyloidosis 11 58 71
Attrwt Amyloidosis 11 58
Wild-Type Transthyretin Cardiac Amyloidosis 11
Wild Type Attr-Related Amyloidosis 58
Wild-Type Attr Amyloidosis 11
Wild Type Attr Amyloidosis 58
Attrwt-Related Amyloidosis 58
Age Related Amyloidosis 11
Old Age Amyloidosis 11

Characteristics:


Prevelance:

Wild Type Attr Amyloidosis: 1-5/10000 (Worldwide) 58

Age Of Onset:

Wild Type Attr Amyloidosis: Adult,Elderly 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Wild-Type Amyloidosis

Orphanet: 58 A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).

MalaCards based summary: Wild-Type Amyloidosis, also known as senile systemic amyloidosis, is related to diastolic heart failure and atrial standstill 1. An important gene associated with Wild-Type Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Metabolism of proteins and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include heart, bone and thyroid, and related phenotypes are congestive heart failure and myocardial infarction

Disease Ontology: 11 An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.

Related Diseases for Wild-Type Amyloidosis

Diseases related to Wild-Type Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 diastolic heart failure 30.4 TTR NPPB
2 atrial standstill 1 30.1 TTR NPPB
3 serum amyloid a amyloidosis 30.1 TTR SERPINA3 B2M APOA1
4 angina pectoris 30.0 NPPB APOA1
5 heart valve disease 30.0 TTR SERPINA3 NPPB
6 aortic valve disease 2 30.0 TTR SERPINA3 NPPB
7 hereditary amyloidosis 29.9 TTR GSN B2M APOA1
8 cerebral amyloid angiopathy, cst3-related 29.7 TTR SERPINA3 IAPP GSN
9 immunoglobulin light chain amyloidosis 29.1 TTR NPPB GSN B2M APOA2 APOA1
10 polyneuropathy 29.0 TTR SERPINA7 GSN APOA2 APOA1
11 heart disease 28.7 TTR SERPINA3 NPPB B2M APOA2 APOA1
12 amyloidosis 28.0 TTR SERPINA3 NPPB IAPP GSN B2M
13 amyloidosis, hereditary, transthyretin-related 27.9 TTR NPPB MT-TR IAPP GSN B2M
14 atrioventricular block 10.3
15 carpal tunnel syndrome 10.3
16 mononeuropathy of the median nerve, mild 10.3
17 autonomic peripheral neuropathy 10.3 TTR MT-TR
18 carotenemia 10.3 TTR APCS
19 amyloid tumor 10.2 TTR B2M
20 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.2
21 muscle hypertrophy 10.2
22 third-degree atrioventricular block 10.2
23 atrial fibrillation 10.2
24 pericardial effusion 10.2
25 liver disease 10.2
26 nutritional deficiency disease 10.2
27 dextrocardia 10.2
28 47 xxx syndrome 10.2
29 rare systemic disease 10.2
30 blepharochalasis 10.2 TTR GSN
31 gerstmann-straussler disease 10.2 TTR SERPINA3
32 cerebral atherosclerosis 10.2 SERPINA3 APOA1
33 sjogren syndrome 10.2
34 hydronephrosis 10.2
35 pyelonephritis 10.2
36 acute pyelonephritis 10.2
37 ceroid lipofuscinosis, neuronal, 5 10.1
38 cardiogenic shock 10.1
39 first-degree atrioventricular block 10.1 TTR NPPB
40 constrictive pericarditis 10.1 TTR NPPB
41 chronic pyelonephritis 10.1 SERPINA3 B2M
42 cardiac sarcoidosis 10.1 TTR NPPB
43 oral candidiasis 10.1 B2M APCS
44 pyelitis 10.1 SERPINA3 B2M
45 tricuspid valve stenosis 10.1 SERPINA3 NPPB
46 cerebral amyloid angiopathy, itm2b-related, 1 10.1 SERPINA3 GSN
47 obstructive jaundice 10.1 TTR SERPINA3
48 bronchiectasis 3 10.1 NPPB B2M
49 orthostatic intolerance 10.1
50 spinal stenosis 10.1

Graphical network of the top 20 diseases related to Wild-Type Amyloidosis:



Diseases related to Wild-Type Amyloidosis

Symptoms & Phenotypes for Wild-Type Amyloidosis

Human phenotypes related to Wild-Type Amyloidosis:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001635
2 myocardial infarction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001658
3 hypertrophic cardiomyopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001639
4 pleural effusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002202
5 pedal edema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010741
6 pulmonary edema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100598
7 abnormal ekg 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003115
8 abnormal pulmonary interstitial morphology 30 Hallmark (90%) HP:0006530
9 bowel incontinence 58 30 Frequent (33%) Frequent (79-30%)
HP:0002607
10 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
11 chronic diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002028
12 intermittent diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002254
13 orthostatic hypotension due to autonomic dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0004926
14 gastrointestinal dysmotility 58 30 Frequent (33%) Frequent (79-30%)
HP:0002579
15 autonomic bladder dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0005341
16 elevated circulating alkaline phosphatase concentration 30 Frequent (33%) HP:0003155
17 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
18 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
19 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
20 nephrotic syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000100
21 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
22 bradycardia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001662
23 arrhythmia 58 Frequent (79-30%)
24 interstitial pulmonary abnormality 58 Very frequent (99-80%)
25 elevated alkaline phosphatase 58 Frequent (79-30%)
26 autonomic dysregulation 58 Frequent (79-30%)

Drugs & Therapeutics for Wild-Type Amyloidosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An 18 Month Open Label Study Of The Tolerability And Efficacy Of An Antisense Oligonucleotide In Patients With Wild-Type Transthyretin Amyloid Cardiomyopathy (Senile Systemic Amyloidosis) Withdrawn NCT02627820 Phase 2 Isis 420915/GSK 299872
2 Phase 1 Two-Part (Open-label, Single Ascending Dose (Part 1) and Open-label, Single Dose Expansion (Part 2)) Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN) and Patients With Transthyretin Amyloidosis-Related Cardiomyopathy (ATTR-CM) Recruiting NCT04601051 Phase 1
3 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Completed NCT02792790
4 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers Completed NCT01604122
5 Prevalence of Wild Type Transthyretin Cardiac Amyloidosis in Patients Operated for Idiopathic Carpal Tunnel Syndrome Completed NCT03996382
6 Prevalence of Wild-Type Transthyretin Cardiac Amyloidosis Among Patients Undergoing Carpal Tunnel Release Surgery - A Prospective Study Recruiting NCT04276220

Search NIH Clinical Center for Wild-Type Amyloidosis

Genetic Tests for Wild-Type Amyloidosis

Anatomical Context for Wild-Type Amyloidosis

Organs/tissues related to Wild-Type Amyloidosis:

MalaCards : Heart, Bone, Thyroid, Liver, Pituitary, Placenta, Tongue

Publications for Wild-Type Amyloidosis

Articles related to Wild-Type Amyloidosis:

(show top 50) (show all 323)
# Title Authors PMID Year
1
Identification of wild-type transthyretin cardiac amyloidosis in patients with carpal tunnel syndrome surgery (CACTuS). 62
36193570 2022
2
Determining patterns of vascular function and structure in wild-type transthyretin cardiac amyloidosis. A comparative study. 62
35716935 2022
3
Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). 62
35583798 2022
4
Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS). 62
35451899 2022
5
Prompt diagnosis of a wild-type transthyretin cardiac amyloidosis: Role of multimodality imaging. 62
36194162 2022
6
Cardiac amyloidosis-interdisciplinary approach to diagnosis and therapy. 62
35674775 2022
7
Transthyretin cardiac amyloidosis. 62
35929637 2022
8
A case of localized colorectal wild-type ATTR amyloidosis complicated by early stage colorectal cancer and a CMV-associated ulcer during the long-term follow-up. 62
35386058 2022
9
Incidence and predictors of worsening heart failure in patients with wild-type transthyretin cardiac amyloidosis. 62
35733407 2022
10
Diflunisal treatment is associated with improved survival for patients with early stage wild-type transthyretin (ATTR) amyloid cardiomyopathy: the Boston University Amyloidosis Center experience. 62
35083944 2022
11
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. 62
35717381 2022
12
Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis. 62
34994254 2022
13
Early Experience of Tafamidis Treatment in Japanese Patients With Wild-Type Transthyretin Cardiac Amyloidosis From the Kochi Amyloidosis Cohort. 62
35599003 2022
14
Usefulness of quantitative 99mTc-pyrophosphate SPECT/CT for predicting the prognosis of patients with wild-type transthyretin cardiac amyloidosis. 62
34973114 2022
15
Prognostic Value of Apical Sparing of Longitudinal Strain in Patients with Symptomatic Aortic Stenosis. 62
35673342 2022
16
Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis-case report and literature review. 62
35581484 2022
17
Transthyretin: Its function and amyloid formation. 62
35218869 2022
18
TTR exon-humanized mouse optimal for verifying new therapies for FAP. 62
35176627 2022
19
Awareness of Nuclear Medicine Physicians in Romania Regarding the Diagnostic of Cardiac Amyloidosis-A Survey-Based Study. 62
35204645 2022
20
Successful management of refractory constipation using Kampo medicine Mashiningan in a patient with wild-type ATTR cardiac amyloidosis. 62
35024066 2022
21
Synthesis and biological evaluation of quinolone derivatives as transthyretin amyloidogenesis inhibitors and fluorescence sensors. 62
34890995 2022
22
Prognostic value of exercise echocardiography in patients with wild-type transthyretin amyloidosis. 62
35440973 2022
23
Impact of afterload and infiltration on coexisting aortic stenosis and transthyretin amyloidosis. 62
34497140 2022
24
Wild-type Transthyretin Amyloidosis with Diffuse Alveolar-septal Amyloidosis Diagnosed by a Transbronchial Lung Biopsy. 62
35850989 2022
25
Wild-Type Transthyretin Cardiac Amyloidosis Is Associated with Increased Antecedent Physical Activity. 62
35083733 2022
26
Spontaneous intramyocardial haemorrhage in a patient with wild-type transthyretin cardiac amyloidosis. 62
33346807 2021
27
Association between spinal stenosis and wild-type ATTR amyloidosis. 62
34263670 2021
28
Multidisciplinary Approaches for Transthyretin Amyloidosis. 62
34089151 2021
29
Wild-type transthyretin cardiac amyloidosis: When is a rare disease no longer a rare disease? 62
32685989 2021
30
Prognostic Role of Cardiopulmonary Exercise Testing in Wild-Type Transthyretin Amyloid Cardiomyopathy Patients Treated With Tafamidis. 62
34280522 2021
31
Can lightning strike twice? Wild-type transthyretin cardiac amyloidosis associated with rare liver disease. 62
34858627 2021
32
[A case of wild-type transthyretin cardiac amyloidosis]. 62
34674441 2021
33
Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey. 62
34729526 2021
34
Age-related amyloidosis outside the brain: A state-of-the-art review. 62
34116224 2021
35
Peripheral Neuropathy in Wild-Type Amyloidosis: The More You Look, the More You Will Find. 62
33431070 2021
36
Early Diagnosis and Outcome in Patients With Wild-Type Transthyretin Cardiac Amyloidosis. 62
34353472 2021
37
Frailty in Wild-Type Transthyretin Cardiac Amyloidosis: The Tip of the Iceberg. 62
34362197 2021
38
The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy. 62
34362124 2021
39
A case of wild-type transthyretin cardiac amyloidosis with rheumatoid arthritis. 62
33314981 2021
40
Transthyretin amyloid deposits in lumbar spinal stenosis and assessment of signs of systemic amyloidosis. 62
33274477 2021
41
Transthyretin amyloidosis and herpes zoster infection: a mimic of temporal arteritis. 62
34167976 2021
42
Tenosynovial and Cardiac Transthyretin Amyloidosis in Japanese Patients Undergoing Carpal Tunnel Release. 62
34136709 2021
43
Wild type transthyretin cardiac amyloidosis in a young individual: A case report. 62
33907095 2021
44
Transthyretin Misfolding, A Fatal Structural Pathogenesis Mechanism. 62
33922648 2021
45
Carpal tunnel syndrome as an early red-flag sign of ATTRwt amyloidosis. 62
33825141 2021
46
Usefulness of electron microscopy in the diagnosis of wild-type transthyretin cardiac amyloidosis. 62
33841594 2021
47
Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis. 62
33155274 2021
48
Association of Low Plasma Transthyretin Concentration With Risk of Heart Failure in the General Population. 62
33237279 2021
49
NAD+ boosting reduces age-associated amyloidosis and restores mitochondrial homeostasis in muscle. 62
33472069 2021
50
Aggregation-Prone Structural Ensembles of Transthyretin Collected With Regression Analysis for NMR Chemical Shift. 62
34746240 2021

Variations for Wild-Type Amyloidosis

Expression for Wild-Type Amyloidosis

Search GEO for disease gene expression data for Wild-Type Amyloidosis.

Pathways for Wild-Type Amyloidosis

Pathways related to Wild-Type Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 TTR IAPP GSN B2M APOA2 APOA1
2
Show member pathways
10.89 TTR APOA1
3 10.37 APOA2 APOA1
4 9.9 APOA2 APOA1

GO Terms for Wild-Type Amyloidosis

Cellular components related to Wild-Type Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.21 TTR SERPINA7 SERPINA3 GSN GNS B2M
2 extracellular space GO:0005615 9.93 APCS APOA1 APOA2 B2M GSN IAPP
3 secretory granule lumen GO:0034774 9.91 SERPINA3 GSN APOA1
4 azurophil granule lumen GO:0035578 9.85 TTR SERPINA3 GNS
5 blood microparticle GO:0072562 9.85 APCS APOA1 APOA2 GSN SERPINA3
6 very-low-density lipoprotein particle GO:0034361 9.76 APOA2 APOA1
7 chylomicron GO:0042627 9.71 APOA2 APOA1
8 extracellular region GO:0005576 9.66 TTR SERPINA7 SERPINA3 NPPB IAPP GSN
9 spherical high-density lipoprotein particle GO:0034366 9.62 APOA1 APOA2

Biological processes related to Wild-Type Amyloidosis according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine biosynthetic process GO:0006656 9.86 APOA2 APOA1
2 cholesterol transport GO:0030301 9.85 APOA2 APOA1
3 lipoprotein metabolic process GO:0042157 9.84 APOA2 APOA1
4 negative regulation of viral entry into host cell GO:0046597 9.83 GSN APCS
5 reverse cholesterol transport GO:0043691 9.81 APOA2 APOA1
6 high-density lipoprotein particle remodeling GO:0034375 9.8 APOA2 APOA1
7 high-density lipoprotein particle assembly GO:0034380 9.78 APOA2 APOA1
8 phospholipid efflux GO:0033700 9.76 APOA2 APOA1
9 thyroid hormone transport GO:0070327 9.73 SERPINA7 TTR
10 positive regulation of CoA-transferase activity GO:1905920 9.71 APOA2 APOA1
11 high-density lipoprotein particle clearance GO:0034384 9.67 APOA2 APOA1
12 peptidyl-methionine modification GO:0018206 9.62 APOA2 APOA1
13 negative regulation of cytokine production involved in immune response GO:0002719 9.56 APOA2 APOA1
14 regulation of intestinal cholesterol absorption GO:0030300 9.46 APOA2 APOA1
15 protein oxidation GO:0018158 9.26 APOA2 APOA1
16 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 8.92 APOA2 APOA1

Molecular functions related to Wild-Type Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.8 TTR NPPB IAPP
2 cholesterol transfer activity GO:0120020 9.67 APOA2 APOA1
3 high-density lipoprotein particle binding GO:0008035 9.56 APOA2 APOA1
4 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOA2 APOA1
5 high-density lipoprotein particle receptor binding GO:0070653 9.26 APOA2 APOA1
6 apolipoprotein receptor binding GO:0034190 8.92 APOA2 APOA1

Sources for Wild-Type Amyloidosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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