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 52
Aa Amyloidosis 52 58 29 71
Reactive Systemic Amyloidosis 71
Inflammatory Amyloidosis 58
Amyloid a Amyloidosis 52
Secondary Amyloidosis 58
Amyloidosis Secondary 54
Reactive Amyloidosis 58

Characteristics:

Orphanet epidemiological data:

58
aa amyloidosis
Inheritance: Multigenic/multifactorial;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare systemic and rhumatological diseases


Summaries for Amyloidosis Aa

NIH Rare Diseases : 52 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 Folate Metabolism and Statin Pathway. The drugs Colchicine and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and spleen, and related phenotypes are hypotension and proteinuria

Wikipedia : 74 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 520)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 31.9 TTR B2M APOA1
2 hyper-igd syndrome 30.8 SAA1 CRP
3 wells syndrome 30.8 MEFV CRP
4 cryopyrin-associated periodic syndrome 30.6 SAA4 CRP
5 familial mediterranean fever 30.5 SAA4 SAA2 SAA1 MEFV CRP
6 erysipelas 30.5 MEFV CRP
7 muckle-wells syndrome 30.5 MEFV CRP
8 peritonitis 30.3 MEFV CRP B2M
9 enthesopathy 30.2 MEFV CRP
10 hypersensitivity reaction type iii disease 30.2 MEFV CRP
11 relapsing fever 30.2 MEFV CRP
12 analbuminemia 30.1 TTR CRP
13 adult-onset still's disease 30.0 MEFV CRP
14 brucellosis 30.0 SAA1 MEFV CRP
15 hypersensitivity vasculitis 29.9 MEFV CRP
16 polyarteritis nodosa 29.9 MEFV CRP
17 pyoderma 29.8 MEFV CRP
18 familial cold autoinflammatory syndrome 29.7 SAA1 MEFV
19 rheumatoid arthritis 29.6 TTR SAA4 SAA1 CTSB CRP
20 hereditary amyloidosis 29.6 TTR B2M APOA1
21 uremia 29.6 LCAT CRP B2M
22 plasma cell neoplasm 29.6 TTR B2M
23 polyneuropathy 29.6 TTR CRP APOA1
24 lipid metabolism disorder 28.6 LPA LCAT CRP APOA1
25 hypothyroidism 28.6 TTR LPA CRP APOA1
26 diabetes mellitus 28.3 LPA LCAT CRP B2M APOA1
27 vascular disease 28.3 LPA LCAT CRP APOA1
28 kidney disease 28.3 TTR LPA LCAT CRP B2M APOA1
29 myocardial infarction 28.3 SAA1 LPA LCAT CRP APOA1
30 chronic kidney disease 28.0 TTR LPA LCAT CRP B2M APOA1
31 amyloidosis 27.2 TTR SAA4 SAA2 SAA1 MEFV LPA
32 spondyloarthropathy 1 10.4
33 inflammatory spondylopathy 10.4
34 spondylitis 10.4
35 wild type abeta2m amyloidosis 10.4
36 arthritis 10.4
37 glomerulonephritis 10.4
38 unicentric castleman disease 10.3 SAA4 CRP
39 periodic fever, familial, autosomal dominant 10.3
40 splenic infarction 10.3 SAA1 CRP
41 juvenile rheumatoid arthritis 10.3
42 cervical adenitis 10.3 MEFV CRP
43 chronic meningitis 10.3 MEFV CRP
44 mediastinitis 10.2 TTR CRP
45 intracranial embolism 10.2 TTR CRP
46 psoriatic arthritis 10.2
47 rheumatic disease 10.2
48 arthropathy 10.2
49 large intestine lipoma 10.2 TTR CRP
50 lipoma of colon 10.2 TTR CRP

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
2 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
3 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
4 renal amyloidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001917
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 venous thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0004936
10 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
11 cholestasis 58 31 frequent (33%) Frequent (79-30%) HP:0001396
12 chronic diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002028
13 enlarged kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000105
14 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
15 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0012622
16 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
17 abnormal oral mucosa morphology 31 frequent (33%) HP:0011830
18 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
19 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
20 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
21 adrenal insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0000846
22 abnormality of the kidney 58 Very frequent (99-80%)
23 abnormality of oral mucosa 58 Frequent (79-30%)
24 amyloidosis 58 Very frequent (99-80%)

Drugs & Therapeutics for Amyloidosis Aa

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

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

40
Kidney, Liver, Spleen, Heart, Bone, Lung, Skin

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

(show top 50) (show all 1131)
# Title Authors PMID Year
1
Essential role of STAT3 in cytokine-driven NF-kappaB-mediated serum amyloid A gene expression. 54 61
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. 54 61
14733913 2004
3
Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. 54 61
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. 54 61
11407685 2001
5
Causes of AA amyloidosis: a systematic review. 61
31766892 2020
6
AA amyloidosis secondary to adult onset Still's disease: About 19 cases. 61
31488308 2020
7
AA amyloidosis associated with Castleman disease: A case report and review of the literature. 61
32028407 2020
8
Amyloidosis Diagnosed in Solid Organ Transplant Recipients. 61
32004234 2020
9
Tofacitinib for the treatment for colchicine-resistant familial Mediterranean fever: case-based review. 61
31813060 2020
10
Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease. 61
32039060 2020
11
[Adult-onset Still's disease complications]. 61
31924392 2020
12
Epidemiology of Castleman disease associated with AA amyloidosis: description of 2 new cases and literature review. 61
31364863 2019
13
Amyloidosis and Ocular Involvement: an Overview. 61
31829761 2019
14
Successful Pregnancies After Regression of AA Amyloidosis by Anti-inflammatory Therapy in Chronic Active Crohn's Disease. 61
31865490 2019
15
Experimental model of oral transmissible AA amyloidosis in quails. 61
31199679 2019
16
Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature. 61
31929295 2019
17
Pattern of renal amyloidosis in South Africa. 61
31706285 2019
18
AA Amyloidosis After Renal Transplantation: An Important Cause of Mortality. 61
31688668 2019
19
Specific changes in faecal microbiota are associated with familial Mediterranean fever. 61
31377728 2019
20
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
21
Allelic Diversity in the Serum Amyloid A2 Gene and Amyloid A Amyloidosis in a Breeding Colony of Zebra Finches (Taeniopygia guttata). 61
31462347 2019
22
Comments on the letter of Galland et al. on "A rare cause of AA amyloidosis and end-stage kidney failure". 61
31119392 2019
23
A rare cause of AA amyloidosis and end-stage kidney failure: Questions. 61
30456663 2019
24
A rare cause of AA amyloidosis and end-stage kidney failure: Answers. 61
30456664 2019
25
Comments on Tașdemir et al.: A rare cause of AA amyloidosis and end-stage kidney failure. 61
31134325 2019
26
Mucocutaneous manifestations in systemic amyloidosis A retrospective analytical study in a tertiary care center. 61
30941743 2019
27
AL amyloidosis: advances in diagnostics and treatment. 61
30299492 2019
28
Modelling disease risk for amyloid A (AA) amyloidosis in non-human primates using machine learning. 61
31210531 2019
29
Morphological and primary structural consistency of fibrils from different AA patients (common variant). 61
31240945 2019
30
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature. 61
31384939 2019
31
A case of protein-losing gastroenteropathy caused by systemic AA amyloidosis secondary to undifferentiated carcinoma of unknown primary origin. 61
31398725 2019
32
Comparative Study on Hyaluronic Acid Binding to Murine SAA1.1 and SAA2.2. 61
31460467 2019
33
Cancer-Associated AA Amyloidosis Presenting as Crescentic Glomerulonephritis. 61
31194182 2019
34
Rapid progression of aortic and mitral stenosis in a patient with AA amyloidosis: a case report. 61
31449604 2019
35
Schnitzler syndrome. 61
31165908 2019
36
Rheumatoid arthritis revealed by polyadenopathy, diarrhea and digestive AA amyloidosis. 61
30081199 2019
37
Assessment of Mean Platelet Volume in Patients with AA Amyloidosis and AA Amyloidosis Secondary to Familial Mediterranean Fever: A Retrospective Chart - Review Study. 61
31123243 2019
38
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. 61
30772614 2019
39
Effect of interleukin-1 antagonists on the quality of life in familial Mediterranean fever patients. 61
30535829 2019
40
Amyloid A amyloidosis secondary to avian tuberculosis in naturally infected domestic pekin ducks (Anas platyrhynchos domestica). 61
30961809 2019
41
Lipid membranes accelerate amyloid formation in the mouse model of AA amyloidosis. 61
30929476 2019
42
Cell assay for the identification of amyloid inhibitors in systemic AA amyloidosis. 61
30739503 2019
43
Cryo-EM fibril structures from systemic AA amyloidosis reveal the species complementarity of pathological amyloids. 61
30846696 2019
44
AA amyloidosis - Benefits and prospects of IL-6 inhibitors. 61
30132351 2019
45
Efficacy and safety of interleukin-1 inhibitors in familial Mediterranean fever patients complicated with amyloidosis. 61
29578360 2019
46
An Unusual Case of Acute Cholecystitis with Amyloidosis: A Case Report and Literature Review. 61
30449804 2019
47
Pulmonary Mycobacterium abscessus Infection with Reactive AA Amyloidosis: A Case Report and Brief Review of the Literature. 61
30333399 2019
48
Familial Mediterranean Fever. 61
30686512 2019
49
[Schnitzler syndrome]. 61
30666414 2019
50
An automated microliter-scale high-throughput screening system (MSHTS) for real-time monitoring of protein aggregation using quantum-dot nanoprobes. 61
30796247 2019

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
11.35 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 13)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.81 SAA1 MEFV CRP B2M
2 negative regulation of inflammatory response GO:0050728 9.61 SAA1 MEFV APOA1
3 cell chemotaxis GO:0060326 9.54 SAA4 SAA2 SAA1
4 phosphatidylcholine biosynthetic process GO:0006656 9.52 LCAT APOA1
5 cholesterol transport GO:0030301 9.49 LCAT APOA1
6 reverse cholesterol transport GO:0043691 9.48 LCAT APOA1
7 high-density lipoprotein particle remodeling GO:0034375 9.46 LCAT APOA1
8 cellular protein metabolic process GO:0044267 9.46 TTR SAA1 B2M APOA1
9 phosphatidylcholine metabolic process GO:0046470 9.4 LCAT APOA1
10 very-low-density lipoprotein particle remodeling GO:0034372 9.32 LCAT APOA1
11 lipoprotein biosynthetic process GO:0042158 9.26 LCAT APOA1
12 positive chemotaxis GO:0050918 9.13 SAA4 SAA2 SAA1
13 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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