MCID: AMY009
MIFTS: 55

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 54
Aa Amyloidosis 54 60 30 74
Amyloidosis, Secondary, Susceptibility to 13
Reactive Systemic Amyloidosis 74
Inflammatory Amyloidosis 60
Amyloid a Amyloidosis 54
Secondary Amyloidosis 60
Amyloidosis Secondary 56
Reactive Amyloidosis 60

Characteristics:

Orphanet epidemiological data:

60
aa amyloidosis
Inheritance: Multigenic/multifactorial;

Classifications:



Summaries for Amyloidosis Aa

NIH Rare Diseases : 54 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 muckle-wells 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 Creatine and Doxycycline have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are hypotension and proteinuria

Wikipedia : 77 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:

Amyloidosis, Hereditary, Transthyretin-Related 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 272)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 32.2 APOA1 TTR
2 muckle-wells syndrome 32.2 CRP MEFV
3 familial mediterranean fever 30.5 CRP MEFV SAA1 SAA2 SAA4
4 cryopyrin-associated periodic syndrome 30.5 CRP SAA4
5 al amyloidosis 30.4 B2M TTR
6 polyarteritis nodosa 30.3 CRP MEFV
7 hyper-igd syndrome 30.2 CRP SAA1
8 adult-onset still's disease 30.0 CRP MEFV
9 hypersensitivity vasculitis 29.8 CRP MEFV
10 wells syndrome 29.8 CRP MEFV
11 amyloidosis 29.6 APOA1 B2M MEFV SAA1 SAA2 SAA4
12 chronic kidney failure 29.1 B2M CRP LPA TTR
13 kidney disease 29.0 B2M CRP LCAT LPA TTR
14 lipid metabolism disorder 29.0 APOA1 CRP LCAT LPA
15 myeloma, multiple 10.8
16 arthritis 10.7
17 rheumatoid arthritis 10.6
18 unicentric castleman disease 10.3 CRP SAA4
19 bronchus cancer 10.3 CRP SAA1
20 wild type abeta2m amyloidosis 10.3
21 blepharochalasis 10.3 SAA1 TTR
22 relapsing fever 10.3 CRP MEFV
23 pericardium disease 10.3 CRP MEFV
24 hypersensitivity reaction type iii disease 10.2 CRP MEFV
25 decubitus ulcer 10.2 CRP TTR
26 pharyngitis 10.2 CRP MEFV
27 henoch-schoenlein purpura 10.2 CRP MEFV
28 tibial neuropathy 10.2 B2M TTR
29 tarsal tunnel syndrome 10.2 B2M TTR
30 pyelitis 10.2 B2M CRP
31 median rhomboid glossitis 10.2 B2M TTR
32 renal tuberculosis 10.2 B2M CRP
33 amyloid tumor 10.2 B2M TTR
34 nerve compression syndrome 10.2 B2M TTR
35 palindromic rheumatism 10.2 CRP MEFV
36 systemic lupus erythematosus 10.2
37 glomerulonephritis 10.2
38 rheumatic disease 10.2
39 lupus erythematosus 10.2
40 analbuminemia 10.2 CRP TTR
41 dysentery 10.2 CRP TTR
42 retinitis pigmentosa 7 10.2 B2M TTR
43 kwashiorkor 10.2 LCAT TTR
44 ischemic heart disease 10.2 APOA1 CRP
45 pleurisy 10.2 CRP MEFV
46 brucellosis 10.2 CRP MEFV SAA1
47 apo a-i deficiency 10.1 APOA1 LCAT
48 psoriatic arthritis 10.1
49 protein-losing enteropathy 10.1
50 diarrhea 10.1

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:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002615
2 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
3 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
4 renal amyloidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001917
5 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
6 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
7 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
8 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
9 venous thrombosis 60 33 frequent (33%) Frequent (79-30%) HP:0004936
10 nephrotic syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0000100
11 cholestasis 60 33 frequent (33%) Frequent (79-30%) HP:0001396
12 chronic diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002028
13 enlarged kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000105
14 nausea 60 33 frequent (33%) Frequent (79-30%) HP:0002018
15 chronic kidney disease 60 33 frequent (33%) Frequent (79-30%) HP:0012622
16 malnutrition 60 33 frequent (33%) Frequent (79-30%) HP:0004395
17 abnormal oral mucosa morphology 33 frequent (33%) HP:0011830
18 acute kidney injury 60 33 occasional (7.5%) Occasional (29-5%) HP:0001919
19 hypothyroidism 60 33 very rare (1%) Very rare (<4-1%) HP:0000821
20 adrenal insufficiency 60 33 very rare (1%) Very rare (<4-1%) HP:0000846
21 abnormal heart morphology 60 33 very rare (1%) Very rare (<4-1%) HP:0001627
22 abnormality of the kidney 60 Very frequent (99-80%)
23 abnormality of oral mucosa 60 Frequent (79-30%)
24 amyloidosis 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Amyloidosis Aa:

47
# 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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
2
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
3 Daratumumab Approved Phase 2,Phase 1 945721-28-8
4
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6 Anti-Infective Agents Phase 2
7 Anti-Bacterial Agents Phase 2
8 Antiprotozoal Agents Phase 2
9 Antiparasitic Agents Phase 2
10 Antimalarials Phase 2
11 Immunologic Factors Phase 2,Phase 1
12 Antibodies, Monoclonal Phase 2,Phase 1
13 Antibodies Phase 2,Phase 1
14 Immunoglobulins Phase 2,Phase 1
15 alanine Phase 2
16 Alkylating Agents Phase 2
17 Immunosuppressive Agents Phase 2
18 phenylalanine Phase 2
19 Nitrogen Mustard Compounds Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21
Copper Approved, Investigational Phase 1 7440-50-8 27099
22 Nutrients Phase 1
23 Micronutrients Phase 1
24 Trace Elements Phase 1
25
Colchicine Approved 64-86-8 2833 6167

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
2 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
3 Daratumumab After Stem Cell Transplant in Treating Patients With Multiple Myeloma Not yet recruiting NCT03346135 Phase 2 Melphalan
4 Copper 64Cu-DOTA-Daratumumab Positron Emission Tomography in Diagnosing Patients With Relapsed Multiple Myeloma Recruiting NCT03311828 Phase 1 Imaging Agent
5 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
6 Recurrent AA Amyloidosis After Renal Transplantation Completed NCT02704065
7 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
8 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641

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 30

Anatomical Context for Amyloidosis Aa

MalaCards organs/tissues related to Amyloidosis Aa:

42
Kidney, Liver, Heart, Spleen, Lung, Bone, Skin

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

(show top 50) (show all 364)
# Title Authors Year
1
Cell assay for the identification of amyloid inhibitors in systemic AA amyloidosis. ( 30739503 )
2019
2
Cryo-EM fibril structures from systemic AA amyloidosis reveal the species complementarity of pathological amyloids. ( 30846696 )
2019
3
Lipid membranes accelerate amyloid formation in the mouse model of AA amyloidosis. ( 30929476 )
2019
4
AA amyloidosis - Benefits and prospects of IL-6 inhibitors. ( 30132351 )
2019
5
Pulmonary Mycobacterium abscessus Infection with Reactive AA Amyloidosis: A Case Report and Brief Review of the Literature. ( 30333399 )
2019
6
Rheumatoid arthritis revealed by polyadenopathy, diarrhea and digestive AA amyloidosis. ( 30081199 )
2019
7
Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma. ( 30231230 )
2018
8
A rare cause of AA amyloidosis and end-stage kidney failure: Questions. ( 30456663 )
2018
9
A rare cause of AA amyloidosis and end-stage kidney failure: Answers. ( 30456664 )
2018
10
AA amyloidosis associated with morbid obesity (clinical case). ( 30527964 )
2018
11
Secondary, AA, Amyloidosis. ( 30274625 )
2018
12
Canakinumab treatment in kidney transplant recipients with AA amyloidosis due to familial Mediterranean fever. ( 29981275 )
2018
13
Recurrence of proteinuria after cessation of tocilizumab in patients with AA amyloidosis secondary to FMF. ( 30071938 )
2018
14
Apolipoprotein A-II induces acute-phase response associated AA amyloidosis in mice through conformational changes of plasma lipoprotein structure. ( 29618729 )
2018
15
Drawing attention to a neglected injecting-related harm: a systematic review of AA amyloidosis among people who inject drugs. ( 29697879 )
2018
16
'Care and Prevent': rationale for investigating skin and soft tissue infections and AA amyloidosis among people who inject drugs in London. ( 29739408 )
2018
17
Inhibitory effect of propolis on the development of AA amyloidosis. ( 29749997 )
2018
18
Successful treatment of systemic AA amyloidosis associated with underlying Hodgkin lymphoma. ( 29767440 )
2018
19
Profile of renal AA amyloidosis in older and younger individuals: a single-centre experience. ( 29775082 )
2018
20
Obesity is a significant susceptibility factor for idiopathic AA amyloidosis. ( 29364741 )
2018
21
Post mortem findings and their relation to AA amyloidosis in free-ranging Herring gulls (Larus argentatus). ( 29494674 )
2018
22
Diagnostic work up of an adult female patient with systemic AA amyloidosis revealing the cause of infantile mental retardation. ( 29166802 )
2018
23
Significant association between renal function and area of amyloid deposition in kidney biopsy specimens in both AA amyloidosis associated with rheumatoid arthritis and AL amyloidosis. ( 28613962 )
2017
24
Late ventricular potentials in familial Mediterranean fever with and without AA amyloidosis. ( 29164000 )
2017
25
Clinical outcomes and survival in AA amyloidosis patients. ( 29173691 )
2017
26
Safety and efficacy of empirical interleukin-1 inhibition using anakinra in AA amyloidosis of uncertain aetiology. ( 28745926 )
2017
27
Systemic AA amyloidosis in the red fox (Vulpes vulpes). ( 28791746 )
2017
28
Recurrent AA Amyloidosis Combined With Chronic Active Antibody-mediated Rejection After Kidney Transplantation. ( 28794296 )
2017
29
Spontaneous, Experimentally Induced, and Transmissible AA Amyloidosis in Japanese Quail ( Coturnix japonica). ( 28812532 )
2017
30
AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations. ( 28868300 )
2017
31
Seed-dependent templating of murine AA amyloidosis. ( 28434369 )
2017
32
Hepatic AA amyloidosis in a cat: cytologic and histologic identification of AA amyloid in macrophages. ( 28519899 )
2017
33
Gout and AA Amyloidosis: A Case Report and Review of the Literature. ( 28538281 )
2017
34
Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever. ( 28558744 )
2017
35
AA amyloidosis associated with recurrent infections in the hyperimmunoglobulin E syndrome. ( 28571953 )
2017
36
Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre. ( 28686088 )
2017
37
Kidney biopsy in AA amyloidosis: impact of histopathology on prognosis. ( 28686525 )
2017
38
Cell-to-cell transfer of SAA1 protein in a cell culture model of systemic AA amyloidosis. ( 28361953 )
2017
39
Isolated AA Amyloidosis of the Radial Nerve. ( 28391751 )
2017
40
Pleural effusion in AA amyloidosis - A rare involvement of a rare disease. ( 28427884 )
2017
41
Amyloid A (AA) amyloidosis in CByB6 mice: a model to study gastrointestinal amyloidosis. ( 28434288 )
2017
42
Prognostication of survival and progression to dialysis in AA amyloidosis. ( 28434292 )
2017
43
Apolipoprotein A-II accelerates reactive AA amyloidosis. ( 28434311 )
2017
44
Long-term tocilizumab efficacy in a patient with psoriatic arthritis and AA amyloidosis. ( 27908297 )
2017
45
Reply to: Long-term tocilizumab efficacy in a patient with psoriatic arthritis and AA amyloidosis. Dinoia et al. ( 27908298 )
2017
46
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever. ( 27956278 )
2017
47
AA Amyloidosis and IgG4-Related Disease. ( 28177871 )
2017
48
AA amyloidosis is an emerging cause of nephropathy in obese patients. ( 28214252 )
2017
49
Identification of a Unique Amyloid Sequence in AA Amyloidosis of a Pig Associated With Streptococcus Suis Infection. ( 27520112 )
2017
50
Experimental transmission of systemic AA amyloidosis in autoimmune disease and type 2 diabetes mellitus model mice. ( 27321428 )
2016

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 APOA1 CRP SAA1 SAA2 SAA4
2
Show member pathways
11.2 APOA1 LCAT LPA
3 10.8 APOA1 TTR

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 APOA1 B2M CTSB LCAT SAA1 SAA2
2 extracellular region GO:0005576 9.81 APOA1 B2M CRP CTSB LCAT LPA
3 extracellular space GO:0005615 9.61 APOA1 B2M CRP CTSB LCAT SAA1
4 endocytic vesicle lumen GO:0071682 9.32 APOA1 SAA1
5 high-density lipoprotein particle GO:0034364 9.02 APOA1 LCAT SAA1 SAA2 SAA4

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

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 APOA1 B2M CRP MEFV TTR
2 chemoattractant activity GO:0042056 8.8 SAA1 SAA2 SAA4

Sources for Amyloidosis Aa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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