MCID: AMY009
MIFTS: 50

Amyloidosis Aa

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyloidosis Aa

MalaCards integrated aliases for Amyloidosis Aa:

Name: Amyloidosis Aa 53
Aa Amyloidosis 53 59 29 72
Reactive Systemic Amyloidosis 72
Inflammatory Amyloidosis 59
Amyloid a Amyloidosis 53
Secondary Amyloidosis 59
Amyloidosis Secondary 55
Reactive Amyloidosis 59

Characteristics:

Orphanet epidemiological data:

59
aa amyloidosis
Inheritance: Multigenic/multifactorial;

Classifications:



External Ids:

ICD10 via Orphanet 34 E85.3
UMLS via Orphanet 73 C0221014
Orphanet 59 ORPHA85445
UMLS 72 C0221014 C3536715

Summaries for Amyloidosis Aa

NIH Rare Diseases : 53 Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called "amyloid fibrils". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition.

MalaCards based summary : Amyloidosis Aa, also known as aa amyloidosis, is related to amyloidosis, hereditary, transthyretin-related and hyper-igd syndrome. An important gene associated with Amyloidosis Aa is SAA1 (Serum Amyloid A1), and among its related pathways/superpathways are Selenium Micronutrient Network and Statin Pathway. The drugs Colchicine and Tubulin Modulators have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and spleen, and related phenotypes are hypotension and proteinuria

Wikipedia : 75 AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of... more...

Related Diseases for Amyloidosis Aa

Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis
Ah Amyloidosis

Diseases related to Amyloidosis Aa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 486)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 32.5 TTR APOA1
2 hyper-igd syndrome 31.1 SAA1 CRP
3 muckle-wells syndrome 30.9 MEFV CRP
4 wells syndrome 30.9 MEFV CRP
5 cryopyrin-associated periodic syndrome 30.8 SAA4 CRP
6 al amyloidosis 30.6 TTR B2M
7 familial mediterranean fever 30.5 SAA4 SAA2 SAA1 MEFV CRP
8 relapsing fever 30.5 MEFV CRP
9 peritonitis 30.4 MEFV CRP B2M
10 hypersensitivity reaction type iii disease 30.4 MEFV CRP
11 polyarteritis nodosa 30.3 MEFV CRP
12 adult-onset still's disease 30.2 MEFV CRP
13 analbuminemia 30.2 TTR CRP
14 hypersensitivity vasculitis 30.1 MEFV CRP
15 coronary stenosis 29.7 CRP APOA1
16 hereditary amyloidosis 29.7 TTR B2M APOA1
17 amyloidosis 29.0 TTR SAA4 SAA2 SAA1 MEFV B2M
18 vascular disease 28.8 LPA CRP APOA1
19 kidney disease 28.6 TTR LPA LCAT CRP B2M
20 lipid metabolism disorder 28.5 LPA LCAT CRP APOA1
21 unicentric castleman disease 10.5 SAA4 CRP
22 bronchus cancer 10.5 SAA1 CRP
23 blepharochalasis 10.5 TTR SAA1
24 rheumatoid arthritis 10.5
25 wild type abeta2m amyloidosis 10.4
26 pericardium disease 10.4 MEFV CRP
27 arthritis 10.4
28 decubitus ulcer 10.4 TTR CRP
29 pharyngitis 10.4 MEFV CRP
30 spondyloarthropathy 1 10.4
31 inflammatory spondylopathy 10.4
32 glomerulonephritis 10.4
33 spondylitis 10.4
34 henoch-schoenlein purpura 10.3 MEFV CRP
35 periodic fever, familial, autosomal dominant 10.3
36 tarsal tunnel syndrome 10.3 TTR B2M
37 tibial neuropathy 10.3 TTR B2M
38 pyelitis 10.3 CRP B2M
39 median rhomboid glossitis 10.3 TTR B2M
40 renal tuberculosis 10.3 CRP B2M
41 amyloid tumor 10.3 TTR B2M
42 palindromic rheumatism 10.3 MEFV CRP
43 nerve compression syndrome 10.3 TTR B2M
44 juvenile rheumatoid arthritis 10.3
45 dysentery 10.3 TTR CRP
46 retinitis pigmentosa 7 10.3 TTR B2M
47 kwashiorkor 10.2 TTR LCAT
48 pleurisy 10.2 MEFV CRP
49 psoriatic arthritis 10.2
50 rheumatic disease 10.2

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



Diseases related to Amyloidosis Aa

Symptoms & Phenotypes for Amyloidosis Aa

Human phenotypes related to Amyloidosis Aa:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
2 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
3 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
4 renal amyloidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001917
5 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
6 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
7 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
8 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
9 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
10 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
11 cholestasis 59 32 frequent (33%) Frequent (79-30%) HP:0001396
12 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
13 enlarged kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000105
14 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
15 chronic kidney disease 59 32 frequent (33%) Frequent (79-30%) HP:0012622
16 malnutrition 59 32 frequent (33%) Frequent (79-30%) HP:0004395
17 abnormal oral mucosa morphology 32 frequent (33%) HP:0011830
18 acute kidney injury 59 32 occasional (7.5%) Occasional (29-5%) HP:0001919
19 hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000821
20 abnormal heart morphology 59 32 very rare (1%) Very rare (<4-1%) HP:0001627
21 adrenal insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000846
22 abnormality of the kidney 59 Very frequent (99-80%)
23 abnormality of oral mucosa 59 Frequent (79-30%)
24 amyloidosis 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Amyloidosis Aa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 APOA1 B2M CRP CTSB LCAT MEFV

Drugs & Therapeutics for Amyloidosis Aa

Drugs for Amyloidosis Aa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 4 64-86-8 6167 2833
2 Tubulin Modulators Phase 4
3 Antimitotic Agents Phase 4
4 Antirheumatic Agents Phase 4
5
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
6 Interleukin 1 Receptor Antagonist Protein Phase 3
7
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
10
Gliclazide Approved Phase 2 21187-98-4 3475
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
12
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
13
Pomalidomide Approved Phase 1, Phase 2 19171-19-8
14 Antimalarials Phase 2
15 Antiparasitic Agents Phase 2
16 Antiprotozoal Agents Phase 2
17 Alkylating Agents Phase 2
18 Antineoplastic Agents, Alkylating Phase 2
19 Antibodies Phase 2
20 Antibodies, Monoclonal Phase 2
21 Immunoglobulins Phase 2
22 Anti-Bacterial Agents Phase 1, Phase 2
23 Anti-Infective Agents Phase 1, Phase 2
24 Hormone Antagonists Phase 1, Phase 2
25 Antiemetics Phase 1, Phase 2
26 Gastrointestinal Agents Phase 1, Phase 2
27 HIV Protease Inhibitors Phase 1, Phase 2
28
protease inhibitors Phase 1, Phase 2
29 Hormones Phase 1, Phase 2
30 Peripheral Nervous System Agents Phase 1, Phase 2
31 glucocorticoids Phase 1, Phase 2
32 Anti-Inflammatory Agents Phase 1, Phase 2
33 Antineoplastic Agents, Hormonal Phase 1, Phase 2
34 Immunosuppressive Agents Phase 1, Phase 2
35 Autonomic Agents Phase 1, Phase 2
36 BB 1101 Phase 1, Phase 2
37 Immunologic Factors Phase 1, Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
39 Angiogenesis Inhibitors Phase 1, Phase 2
40 Angiogenesis Modulating Agents Phase 1, Phase 2
41
Ichthammol Approved Phase 1 8029-68-3
42 Daratumumab Approved Phase 1 945721-28-8
43
Ixazomib Approved, Investigational Phase 1 1072833-77-2
44
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
45
Glycine Approved, Nutraceutical, Vet_approved Phase 1 56-40-6 750
46 Neurotransmitter Agents Phase 1
47
Liposomal doxorubicin Phase 1 31703
48 Topoisomerase Inhibitors Phase 1
49 Antibiotics, Antitubercular Phase 1
50 Esorubicin Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With Familial Mediterranean Fever: A Randomized Trial Completed NCT02602028 Phase 4 colchicine
2 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
3 International Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of the Efficacy and Safety of KIACTA in Preventing Renal Function Decline in Patients With AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
4 A Randomized Placebo-Controlled Study of the Efficacy and Safety of Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
5 A Phase II Study of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
6 Phase II Study of Bortezomib, Cyclophosphamide and Dexamethasone in Patients With Primary Systemic Light Chain Amyloidosis Completed NCT01072773 Phase 2 bortezomib;cyclophosphamide;dexamethasone
7 A Phase II Study of Isatuximab (SAR650984) (NSC-795145) for Patients With Previously Treated AL Amyloidosis Recruiting NCT03499808 Phase 2
8 A Phase I/II Trial of Pomalidomide and Dexamethasone in Subjects With Previously-Treated AL Amyloidosis Active, not recruiting NCT01570387 Phase 1, Phase 2 Pomalidomide;Dexamethasone
9 A Safety Study of Daratumumab, Ixazomib, and Dexamethasone in AL Amyloidosis Recruiting NCT03283917 Phase 1 Dexamethasone;Ixazomib
10 Phase I Trial of 4'-IODO-4'-Deoxydoxorubicin in Primary Amyloidosis (AL) Terminated NCT00030381 Phase 1 4'-iodo-4'-deoxydoxorubicin
11 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
12 Recurrent AA Amyloidosis After Renal Transplantation: Effects on Allograft Survival Completed NCT02704065
13 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296

Search NIH Clinical Center for Amyloidosis Aa

Genetic Tests for Amyloidosis Aa

Genetic tests related to Amyloidosis Aa:

# Genetic test Affiliating Genes
1 Aa Amyloidosis 29

Anatomical Context for Amyloidosis Aa

MalaCards organs/tissues related to Amyloidosis Aa:

41
Kidney, Liver, Spleen, Heart, Lung, Bone, Skin

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

(show top 50) (show all 1114)
# Title Authors PMID Year
1
Essential role of STAT3 in cytokine-driven NF-kappaB-mediated serum amyloid A gene expression. 9 38
16236134 2005
2
IL-6 plays a critical role in the synergistic induction of human serum amyloid A (SAA) gene when stimulated with proinflammatory cytokines as analyzed with an SAA isoform real-time quantitative RT-PCR assay system. 9 38
14733913 2004
3
Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. 9 38
15122067 2004
4
A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis. 9 38
11407685 2001
5
Comments on the letter of Galland et al. on "A rare cause of AA amyloidosis and end-stage kidney failure". 38
31119392 2019
6
A rare cause of AA amyloidosis and end-stage kidney failure: Questions. 38
30456663 2019
7
A rare cause of AA amyloidosis and end-stage kidney failure: Answers. 38
30456664 2019
8
Comments on Tașdemir et al.: A rare cause of AA amyloidosis and end-stage kidney failure. 38
31134325 2019
9
Modelling disease risk for amyloid A (AA) amyloidosis in non-human primates using machine learning. 38
31210531 2019
10
Mucocutaneous manifestations in systemic amyloidosis A retrospective analytical study in a tertiary care center. 38
30941743 2019
11
Morphological and primary structural consistency of fibrils from different AA patients (common variant). 38
31240945 2019
12
A case of protein-losing gastroenteropathy caused by systemic AA amyloidosis secondary to undifferentiated carcinoma of unknown primary origin. 38
31398725 2019
13
Specific changes in faecal microbiota are associated with familial Mediterranean fever. 38
31377728 2019
14
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature. 38
31384939 2019
15
Epidemiology of Castleman disease associated with AA amyloidosis: description of 2 new cases and literature review. 38
31364863 2019
16
Schnitzler syndrome. 38
31165908 2019
17
Cancer-Associated AA Amyloidosis Presenting as Crescentic Glomerulonephritis. 38
31194182 2019
18
Experimental model of oral transmissible AA amyloidosis in quails. 38
31199679 2019
19
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. 38
30772614 2019
20
Assessment of Mean Platelet Volume in Patients with AA Amyloidosis and AA Amyloidosis Secondary to Familial Mediterranean Fever: A Retrospective Chart - Review Study. 38
31123243 2019
21
Rheumatoid arthritis revealed by polyadenopathy, diarrhea and digestive AA amyloidosis. 38
30081199 2019
22
Effect of interleukin-1 antagonists on the quality of life in familial Mediterranean fever patients. 38
30535829 2019
23
Amyloid A amyloidosis secondary to avian tuberculosis in naturally infected domestic pekin ducks (Anas platyrhynchos domestica). 38
30961809 2019
24
Cryo-EM fibril structures from systemic AA amyloidosis reveal the species complementarity of pathological amyloids. 38
30846696 2019
25
Cell assay for the identification of amyloid inhibitors in systemic AA amyloidosis. 38
30739503 2019
26
Lipid membranes accelerate amyloid formation in the mouse model of AA amyloidosis. 38
30929476 2019
27
AA amyloidosis - Benefits and prospects of IL-6 inhibitors. 38
30132351 2019
28
Efficacy and safety of interleukin-1 inhibitors in familial Mediterranean fever patients complicated with amyloidosis. 38
29578360 2019
29
An Unusual Case of Acute Cholecystitis with Amyloidosis: A Case Report and Literature Review. 38
30449804 2019
30
Pulmonary Mycobacterium abscessus Infection with Reactive AA Amyloidosis: A Case Report and Brief Review of the Literature. 38
30333399 2019
31
[Schnitzler syndrome]. 38
30666414 2019
32
An automated microliter-scale high-throughput screening system (MSHTS) for real-time monitoring of protein aggregation using quantum-dot nanoprobes. 38
30796247 2019
33
Familial Mediterranean Fever. 38
30686512 2019
34
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease. 38
31057541 2019
35
Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans. 38
31205631 2019
36
Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure. 38
31007959 2019
37
Systemic Amyloidosis with Renal Failure: A Challenging Diagnosis of SAPHO Syndrome. 38
31139585 2019
38
[Renal amyloidosis complicating adult onset Still's disease: about three cases]. 38
31303928 2019
39
Synchronous Unicentric Castleman Disease and Inflammatory Hepatocellular Adenoma: a Case Report. 38
31113603 2019
40
Secondary amyloidosis associated with heroin use and recurrent infections - A case report. 38
30581568 2019
41
Nephrotoxicity of immune checkpoint inhibitors beyond tubulointerstitial nephritis: single-center experience. 38
30612580 2019
42
[Prenatal care in patients with renal disease]. 38
30602185 2019
43
Ocular leptospiral infection leads to ciliary induction and local AA-amyloidosis in horses. 38
31343336 2019
44
Experimental transmission of AA amyloidosis in the European brown hare (Lepus europaeus) - first results. 38
31343351 2019
45
Significant association between renal function and area of amyloid deposition in kidney biopsy specimens from patients with AA amyloidosis associated with rheumatoid arthritis and AL amyloidosis. 38
31343309 2019
46
Systemic AA amyloidosis secondary to rheumatoid arthritis may be treatable but is still difficult to manage in daily clinical practice. 38
31343283 2019
47
Is there a connection between the microbiome and AA amyloidosis? First hints from the European brown hare (Lepus europaeus). 38
31343352 2019
48
Value of natriuretic peptides and tissue Doppler imaging in the estimation of left ventricular filling pressure in patients with cardiac amyloidosis. 38
31217996 2019
49
Intestinal involvement in amyloidosis is a sequential process. 38
30230124 2018
50
AA amyloidosis associated with morbid obesity (clinical case). 38
30527964 2018

Variations for Amyloidosis Aa

Expression for Amyloidosis Aa

Search GEO for disease gene expression data for Amyloidosis Aa.

Pathways for Amyloidosis Aa

Pathways related to Amyloidosis Aa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 SAA4 SAA2 SAA1 CRP APOA1
2
Show member pathways
11.2 LPA LCAT APOA1
3 10.8 TTR APOA1

GO Terms for Amyloidosis Aa

Cellular components related to Amyloidosis Aa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 TTR SAA4 SAA2 SAA1 LCAT CTSB
2 extracellular region GO:0005576 9.81 TTR SAA4 SAA1 LPA LCAT CTSB
3 extracellular space GO:0005615 9.61 TTR SAA4 SAA2 SAA1 LCAT CTSB
4 endocytic vesicle lumen GO:0071682 9.32 SAA1 APOA1
5 high-density lipoprotein particle GO:0034364 9.02 SAA4 SAA2 SAA1 LCAT APOA1

Biological processes related to Amyloidosis Aa according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.78 SAA1 MEFV CRP B2M
2 negative regulation of inflammatory response GO:0050728 9.58 SAA1 MEFV APOA1
3 phosphatidylcholine biosynthetic process GO:0006656 9.51 LCAT APOA1
4 cell chemotaxis GO:0060326 9.5 SAA4 SAA2 SAA1
5 cholesterol transport GO:0030301 9.49 LCAT APOA1
6 reverse cholesterol transport GO:0043691 9.46 LCAT APOA1
7 cellular protein metabolic process GO:0044267 9.46 TTR SAA1 B2M APOA1
8 high-density lipoprotein particle remodeling GO:0034375 9.43 LCAT APOA1
9 very-low-density lipoprotein particle remodeling GO:0034372 9.37 LCAT APOA1
10 lipoprotein biosynthetic process GO:0042158 9.26 LCAT APOA1
11 positive chemotaxis GO:0050918 9.13 SAA4 SAA2 SAA1
12 acute-phase response GO:0006953 8.92 SAA4 SAA2 SAA1 CRP

Molecular functions related to Amyloidosis Aa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 TTR MEFV CRP B2M APOA1
2 chemoattractant activity GO:0042056 8.8 SAA4 SAA2 SAA1

Sources for Amyloidosis Aa

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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