MCID: AMY009
MIFTS: 53

Amyloidosis Aa

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

Aliases & Classifications for Amyloidosis Aa

MalaCards integrated aliases for Amyloidosis Aa:

Name: Amyloidosis Aa 53
Aa Amyloidosis 53 59 29 73
Reactive Systemic Amyloidosis 73
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:



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 muckle-wells syndrome and amyloidosis, hereditary, transthyretin-related. 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 Creatine and Doxycycline have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and spleen, and related phenotypes are malnutrition and venous thrombosis

Wikipedia : 76 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 84)
# Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 32.3 CRP MEFV
2 amyloidosis, hereditary, transthyretin-related 32.2 APOA1 TTR
3 familial mediterranean fever 30.9 CRP MEFV SAA1 SAA2 SAA4
4 amyloidosis 27.9 APOA1 B2M MEFV SAA1 SAA2 SAA4
5 periodic fever, familial, autosomal dominant 11.0
6 bronchus cancer 10.7 CRP SAA1
7 unicentric castleman disease 10.7 CRP SAA4
8 hyper-igd syndrome 10.7 CRP SAA1
9 cryopyrin-associated periodic syndrome 10.7 CRP SAA4
10 blepharochalasis 10.6 SAA1 TTR
11 relapsing fever 10.6 CRP MEFV
12 hypersensitivity vasculitis 10.6 CRP MEFV
13 myeloma, multiple 10.6
14 hypersensitivity reaction type iii disease 10.5 CRP MEFV
15 chronic ulcer of skin 10.5 CRP TTR
16 pharyngitis 10.5 CRP MEFV
17 decubitus ulcer 10.5 CRP TTR
18 polyarteritis nodosa 10.5 CRP MEFV
19 wells syndrome 10.5 CRP MEFV
20 adult-onset still's disease 10.4 CRP MEFV
21 tibial neuropathy 10.4 B2M TTR
22 tarsal tunnel syndrome 10.4 B2M TTR
23 median rhomboid glossitis 10.4 B2M TTR
24 palindromic rheumatism 10.4 CRP MEFV
25 pyelitis 10.4 B2M CRP
26 analbuminemia 10.4 CRP TTR
27 dysentery 10.4 CRP TTR
28 nerve compression syndrome 10.4 B2M TTR
29 amyloid tumor 10.4 B2M TTR
30 amyloid neuropathy 10.4 APOA1 TTR
31 pleurisy 10.4 CRP MEFV
32 retinitis pigmentosa 7 10.4 B2M TTR
33 kwashiorkor 10.3 LCAT TTR
34 ischemic heart disease 10.3 APOA1 CRP
35 brucellosis 10.3 CRP MEFV SAA1
36 apo a-i deficiency 10.3 APOA1 LCAT
37 hemorrhagic fever with renal syndrome 10.3 B2M CRP
38 familial lcat deficiency 10.2 APOA1 LCAT
39 pericarditis 10.2 CRP MEFV
40 fish-eye disease 10.2 APOA1 LCAT
41 hypobetalipoproteinemia, familial, 1 10.2 APOA1 LCAT
42 fetal macrosomia 10.1 APOA1 LCAT
43 peritonitis 10.1 B2M CRP MEFV
44 hypoalphalipoproteinemia, primary 10.1 APOA1 LCAT
45 nutritional deficiency disease 10.1 CRP TTR
46 testicular yolk sac tumor 10.1 APOA1 TTR
47 carotenemia 10.0 LPA TTR
48 chronic kidney failure 10.0 B2M CRP TTR
49 heart conduction disease 9.9 CRP TTR
50 hyperalphalipoproteinemia 1 9.9 APOA1 LCAT

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

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 20)
# 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
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Daratumumab Approved Phase 2 945721-28-8
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Antiparasitic Agents Phase 2
9 Antiprotozoal Agents Phase 2
10 Antimalarials Phase 2
11 Alkylating Agents Phase 2
12 Nitrogen Mustard Compounds Phase 2
13 Antibodies Phase 2
14 Immunoglobulins Phase 2
15 Antibodies, Monoclonal Phase 2
16 Immunosuppressive Agents Phase 2
17 Antineoplastic Agents, Alkylating Phase 2
18 phenylalanine Nutraceutical Phase 2
19 alanine Nutraceutical Phase 2
20
Colchicine Approved 64-86-8 6167 2833

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 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
5 Recurrent AA Amyloidosis After Renal Transplantation Completed NCT02704065
6 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
7 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 29

Anatomical Context for Amyloidosis Aa

MalaCards organs/tissues related to Amyloidosis Aa:

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

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

(show top 50) (show all 124)
# Title Authors Year
1
Canakinumab treatment in kidney transplant recipients with AA amyloidosis due to familial Mediterranean fever. ( 29981275 )
2018
2
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever. ( 27956278 )
2017
3
Systemic AA amyloidosis in the red fox (Vulpes vulpes). ( 28791746 )
2017
4
Comparative Analysis of Outcomes of Kidney Transplantation in Patients With AA Amyloidosis and Chronic Glomerulonephritis. ( 27569937 )
2016
5
Longitudinal study of experimental induction of AA amyloidosis in mice seeded with homologous and heterologous AA fibrils. ( 27165856 )
2016
6
Long-term follow-up on tocilizumab treatment of AA amyloidosis secondary to polyarteritis nodosa. ( 27791393 )
2016
7
Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever. ( 27225717 )
2016
8
Detection of AA76, a Common Form of Amyloid A Protein, as a Way of Diagnosing AA Amyloidosis. ( 27098620 )
2016
9
The Hidden Cost of Untreated Paragangliomas of the Head and Neck: Systemic Reactive (AA) Amyloidosis. ( 25838953 )
2015
10
Therapeutic blockade of interleukin-6 by tocilizumab in the management of AA amyloidosis and chronic inflammatory disorders: a case series and review of the literature. ( 26120866 )
2015
11
Tocilizumab for AA Amyloidosis after Treatment of Multicentric Castleman Disease with Steroids, Chemotherapy and Rituximab for Over 20 Years. ( 26666616 )
2015
12
Comparison of the clinical utility of tocilizumab and anti-TNF therapy in AA amyloidosis complicating rheumatic diseases. ( 24261770 )
2014
13
Risk factors for AA amyloidosis in Germany. ( 25376380 )
2014
14
AA Amyloidosis: Pathogenesis and Targeted Therapy. ( 25387054 )
2014
15
Systemic AA amyloidosis: epidemiology, diagnosis, and management. ( 25378951 )
2014
16
Renal parenchymal calcification secondary to systemic AA amyloidosis. ( 25878784 )
2014
17
Experimental Transmission of AA Amyloidosis by Injecting the AA Amyloid Protein Into Interleukin-1 Receptor Antagonist Knockout (IL-1raKO) Mice. ( 25391376 )
2014
18
AA amyloidosis in vaccinated growing chickens. ( 23570943 )
2013
19
AA amyloidosis-resistant CE/J mice have Saa1 and Saa2 genes that encode an identical SAA isoform. ( 24228751 )
2013
20
Transmission of AA amyloidosis may cause outbreaks of amyloid A amyloidosis in chickens. ( 23642208 )
2013
21
Variegate porphyria complicated by systemic AA amyloidosis: a case report. ( 24131077 )
2013
22
Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome. ( 23650909 )
2013
23
Comparison of the clinical utility of tocilizumab and anti-TNF therapy in AA amyloidosis complicating rheumatic diseases. ( 23460389 )
2013
24
R?enal AA amyloidosis during langerhans'cell histiocytosis: case report. ( 24282006 )
2013
25
Study on the safety and efficacy of tocilizumab, an anti-IL-6 receptor antibody, in patients with rheumatoid arthritis complicated with AA amyloidosis. ( 24252016 )
2013
26
AA amyloidosis associated with systemic-onset juvenile idiopathic arthritis. ( 23664546 )
2013
27
Experimental induction and oral transmission of avian AA amyloidosis in vaccinated white hens. ( 23548152 )
2013
28
Decreasing incidence of AA amyloidosis in Spain. ( 24020894 )
2013
29
AA amyloidosis complicating the hereditary periodic fever syndromes. ( 23280696 )
2013
30
Transmission of Systemic AA Amyloidosis in Animals. ( 24280941 )
2013
31
Decreasing incidence of AA amyloidosis in Spain. ( 23683125 )
2013
32
Inflammatory bowel disease and systemic AA amyloidosis. ( 23371008 )
2013
33
When first line therapy for AA-amyloidosis secondary to rheumatoid arthritis fails: a correspondence. ( 23022420 )
2013
34
Decreasing incidence of AA amyloidosis in Spain. ( 24020924 )
2013
35
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes. ( 23461592 )
2013
36
Depletion of Spleen Macrophages Delays AA Amyloid Development: A Study Performed in the Rapid Mouse Model of AA Amyloidosis. ( 24236094 )
2013
37
AA amyloidosis in a polyarteritis nodosa patient treated with tocilizumab. ( 24106820 )
2013
38
Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis. ( 24558629 )
2013
39
Renal involvement in AA amyloidosis: clinical outcomes and survival. ( 23548761 )
2013
40
Control of AA amyloidosis complicating Crohn's disease: a clinico-pathological study. ( 23373823 )
2013
41
Gastrointestinal AA amyloidosis following allogeneic hematopoietic stem cell transplant in a patient with chronic myelogenous leukemia. ( 23163702 )
2013
42
Successful treatment of protein-losing enteropathy due to AA amyloidosis with octreotide in a patient with rheumatoid arthritis. ( 22815005 )
2013
43
A case report of AA amyloidosis associated with familial periodic fever syndrome diagnosed after kidney transplantation: never say never. ( 24034047 )
2013
44
AA-amyloidosis in autosomal dominant polycystic kidney disease caused by chronic cyst infections lasting for 30 years. ( 23545677 )
2013
45
AA amyloidosis as a complication of primary lymphedema. ( 23964754 )
2013
46
Churg-Strauss syndrome associated with AA amyloidosis: a case report. ( 22891088 )
2012
47
Unusual renal manifestation of Caroli disease: AA amyloidosis. ( 22681158 )
2012
48
Renal AA amyloidosis in a Castleman's disease patient. ( 23013971 )
2012
49
Effects of AA amyloidosis on survival in peritoneal dialysis. ( 23147073 )
2012
50
Renal AA-amyloidosis in intravenous drug users--a role for HIV-infection? ( 23171281 )
2012

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 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 9.91 APOA1 B2M CRP CTSB LCAT SAA1
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 13)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.8 B2M CRP MEFV SAA1
2 negative regulation of inflammatory response GO:0050728 9.58 APOA1 MEFV SAA1
3 phosphatidylcholine biosynthetic process GO:0006656 9.52 APOA1 LCAT
4 cholesterol transport GO:0030301 9.51 APOA1 LCAT
5 cell chemotaxis GO:0060326 9.5 SAA1 SAA2 SAA4
6 reverse cholesterol transport GO:0043691 9.48 APOA1 LCAT
7 high-density lipoprotein particle remodeling GO:0034375 9.46 APOA1 LCAT
8 cellular protein metabolic process GO:0044267 9.46 APOA1 B2M SAA1 TTR
9 phosphatidylcholine metabolic process GO:0046470 9.43 APOA1 LCAT
10 very-low-density lipoprotein particle remodeling GO:0034372 9.37 APOA1 LCAT
11 lipoprotein biosynthetic process GO:0042158 9.26 APOA1 LCAT
12 positive chemotaxis GO:0050918 9.13 SAA1 SAA2 SAA4
13 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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