SSA
MCID: WLD005
MIFTS: 30

Wild Type Attr Amyloidosis (SSA)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Wild Type Attr Amyloidosis

MalaCards integrated aliases for Wild Type Attr Amyloidosis:

Name: Wild Type Attr Amyloidosis 59
Senile Systemic Amyloidosis 59 72
Wild Type Attr-Related Amyloidosis 59
Attrwt-Related Amyloidosis 59
Attrwt Amyloidosis 59
Ssa 59

Characteristics:

Orphanet epidemiological data:

59
wild type attr amyloidosis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult;

Classifications:



External Ids:

ICD10 via Orphanet 34 E85.8
Orphanet 59 ORPHA330001
UMLS 72 C0342623

Summaries for Wild Type Attr Amyloidosis

MalaCards based summary : Wild Type Attr Amyloidosis, also known as senile systemic amyloidosis, is related to sessile serrated polyposis cancer syndrome and amyloidosis, hereditary, transthyretin-related. The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and liver, and related phenotypes are hypertrophic cardiomyopathy and myocardial infarction

Related Diseases for Wild Type Attr Amyloidosis

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

(show top 50) (show all 195)
# Related Disease Score Top Affiliating Genes
1 sessile serrated polyposis cancer syndrome 11.6
2 amyloidosis, hereditary, transthyretin-related 11.3
3 heart block, congenital 10.8
4 connective tissue disease 10.6
5 lupus erythematosus 10.6
6 systemic lupus erythematosus 10.6
7 atrioventricular block 10.6
8 cutaneous lupus erythematosus 10.5
9 neonatal lupus erythematosus 10.5
10 subacute cutaneous lupus erythematosus 10.4
11 sjogren syndrome 10.4
12 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
13 polyneuropathy 10.4
14 endocardial fibroelastosis 10.4
15 exanthem 10.3
16 purpura 10.3
17 amyloidosis 10.3
18 al amyloidosis 10.3
19 rheumatic disease 10.3
20 dermatomyositis 10.3
21 vasculitis 10.3
22 scleroderma, familial progressive 10.2
23 dilated cardiomyopathy 10.2
24 interstitial lung disease 10.2
25 annular erythema 10.2
26 mixed connective tissue disease 10.2
27 skin disease 10.2
28 polymyositis 10.2
29 undifferentiated connective tissue disease 10.2
30 discoid lupus erythematosus 10.2
31 autoimmune disease 10.2
32 carpal tunnel syndrome 10.2
33 hydronephrosis 10.2
34 pyelonephritis 10.2
35 acute pyelonephritis 10.2
36 hereditary transthyretin amyloidosis 10.2
37 congestive heart failure 10.2
38 keratoconjunctivitis sicca 10.2
39 antiphospholipid syndrome 10.2
40 systemic scleroderma 10.2
41 adenoma 10.2
42 second-degree atrioventricular block 10.1
43 primary biliary cirrhosis 10.1
44 lymphopenia 10.1
45 myocarditis 10.1
46 lung disease 10.1
47 48,xyyy 10.1
48 primary biliary cholangitis 10.1
49 raynaud phenomenon 10.1
50 myositis 10.0

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



Diseases related to Wild Type Attr Amyloidosis

Symptoms & Phenotypes for Wild Type Attr Amyloidosis

Human phenotypes related to Wild Type Attr Amyloidosis:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
2 myocardial infarction 59 32 hallmark (90%) Very frequent (99-80%) HP:0001658
3 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
4 pleural effusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0002202
5 interstitial pulmonary abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0006530
6 abnormal ekg 59 32 hallmark (90%) Very frequent (99-80%) HP:0003115
7 pulmonary edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100598
8 pedal edema 32 hallmark (90%) HP:0010741
9 bowel incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0002607
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
12 orthostatic hypotension due to autonomic dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0004926
13 gastrointestinal dysmotility 59 32 frequent (33%) Frequent (79-30%) HP:0002579
14 elevated alkaline phosphatase 59 32 frequent (33%) Frequent (79-30%) HP:0003155
15 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
16 intermittent diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002254
17 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
18 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
19 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
20 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
21 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
22 bradycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001662
23 arrhythmia 59 Frequent (79-30%)
24 edema of the lower limbs 59 Very frequent (99-80%)
25 autonomic dysregulation 59 Frequent (79-30%)

Drugs & Therapeutics for Wild Type Attr Amyloidosis

Drugs for Wild Type Attr Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
2 Anti-Bacterial Agents Phase 2
3 Antimalarials Phase 2
4 Antiparasitic Agents Phase 2
5 Antiprotozoal Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
2 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
3 A sTudy invesTigating the Role of Occult cArdiaC Amyloid in The Elderly With Aortic Stenosis Unknown status NCT03029026

Search NIH Clinical Center for Wild Type Attr Amyloidosis

Genetic Tests for Wild Type Attr Amyloidosis

Anatomical Context for Wild Type Attr Amyloidosis

MalaCards organs/tissues related to Wild Type Attr Amyloidosis:

41
Heart, Bone, Liver, Thyroid, Pituitary, Skin, Placenta

Publications for Wild Type Attr Amyloidosis

Articles related to Wild Type Attr Amyloidosis:

(show top 50) (show all 212)
# Title Authors PMID Year
1
Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. 38
31171094 2019
2
When and how do patients with cardiac amyloidosis die? 38
31134330 2019
3
Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights. 38
30764529 2019
4
Echocardiographic and pathologic findings of wild-type transthyretin senile systemic amyloidosis developed in early 50s. 38
29700757 2018
5
Accelerated pre-senile systemic amyloidosis in PACAP knockout mice - a protective role of PACAP in age-related degenerative processes. 38
29774542 2018
6
A FTIR microspectroscopy study of the structural and biochemical perturbations induced by natively folded and aggregated transthyretin in HL-1 cardiomyocytes. 38
30131519 2018
7
First nationwide survey on systemic wild-type ATTR amyloidosis in Japan. 38
29182024 2018
8
Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment. 38
28739313 2018
9
Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy. 38
28906150 2017
10
Characterization of isolated amyloid myopathy. 38
28888072 2017
11
FRET studies of various conformational states adopted by transthyretin. 38
28478513 2017
12
Undiagnosed senile systemic amyloidosis with mesenteric angiopathy leading to fatal outcomes: Two case series with a review of literature. 38
28937388 2017
13
Inhibition of amyloid oligomerization into different supramolecular architectures by small molecules: mechanistic insights and design rules. 38
28485623 2017
14
Senile Systemic Amyloidosis: An Underdiagnosed Disease. 38
30755970 2017
15
An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms. 38
28090046 2017
16
Biochemical and Electrophysiological Modification of Amyloid Transthyretin on Cardiomyocytes. 38
27806283 2016
17
Acute cardiac failure secondary to senile systemic amyloidosis. 38
27103598 2016
18
Rapid detection of wild-type and mutated transthyretins. 38
26342004 2016
19
The polyphenol Oleuropein aglycone hinders the growth of toxic transthyretin amyloid assemblies. 38
27012632 2016
20
Tetrabromobisphenol A Is an Efficient Stabilizer of the Transthyretin Tetramer. 38
27093678 2016
21
Synthesis and structural analysis of halogen substituted fibril formation inhibitors of Human Transthyretin (TTR). 38
27067161 2016
22
Modifications of the 7-Hydroxyl Group of the Transthyretin Ligand Luteolin Provide Mechanistic Insights into Its Binding Properties and High Plasma Specificity. 38
27050398 2016
23
(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. 38
26849806 2016
24
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. 38
25604431 2015
25
Imaging of cardiac amyloidosis by (99m)Tc-PYP scintigraphy. 38
26665211 2015
26
The transthyretin amyloidoses: advances in therapy. 38
26048914 2015
27
A look into amyloid formation by transthyretin: aggregation pathway and a novel kinetic model. 38
25694367 2015
28
Cardiac amyloidosis in a heart transplant patient - A case report and retrospective analysis of amyloidosis evolution. 38
25674390 2015
29
Wild-type ATTR amyloidosis of the ureter in a 56-year-old woman with rheumatoid arthritis and Sjögren's syndrome. 38
26339445 2015
30
[Amyloidosis and neurological disorders: Treatable amyloidosis]. 38
26458571 2015
31
The flavonoid luteolin, but not luteolin-7-O-glucoside, prevents a transthyretin mediated toxic response. 38
26020516 2015
32
Cooperative stabilization of transthyretin by clusterin and diflunisal. 38
25478940 2015
33
Binding site asymmetry in human transthyretin: insights from a joint neutron and X-ray crystallographic analysis using perdeuterated protein. 38
25485123 2014
34
Inhibitory activities of propolis and its promising component, caffeic acid phenethyl ester, against amyloidogenesis of human transthyretin. 38
25314129 2014
35
The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses. 38
25086037 2014
36
Novel styrylbenzene derivatives for detecting amyloid deposits. 38
24815035 2014
37
[Answer to the letter from Mrs Aurélie Daumas about our article "senile systemic amyloidosis: definition, diagnosis, why thinking about?"]. 38
24997877 2014
38
Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. 38
24620715 2014
39
[Familial amyloid polyneuropathy: clinicopathological aspects]. 38
24998820 2014
40
Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. 38
24023270 2014
41
[Senile systemic amyloidosis]. 38
24998826 2014
42
Recent progress in the understanding and treatment of transthyretin amyloidosis. 38
24749898 2014
43
Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. 38
24720917 2014
44
Quantification of transthyretin kinetic stability in human plasma using subunit exchange. 38
24661308 2014
45
Cancer risk in amyloidosis patients in Sweden with novel findings on non-Hodgkin lymphoma and skin cancer. 38
24406424 2014
46
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation. 38
25550818 2014
47
Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy: a proteomic approach. 38
24182678 2013
48
Usefulness of plasma B-type natriuretic peptide as a prognostic marker of cardiac function in senile systemic amyloidosis and in familial amyloidotic polyneuropathy. 38
24111636 2013
49
Pro-oxidative effects of aggregated transthyretin in human Schwannoma cells. 38
24035786 2013
50
[Letter on the article: "senile systemic amyloidosis: definition, diagnosis, why thinking about?"]. 38
24216054 2013

Variations for Wild Type Attr Amyloidosis

Expression for Wild Type Attr Amyloidosis

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

Pathways for Wild Type Attr Amyloidosis

GO Terms for Wild Type Attr Amyloidosis

Sources for Wild Type Attr Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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