MCID: AMY009
MIFTS: 48

Amyloidosis Aa

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

Aliases & Classifications for Amyloidosis Aa

MalaCards integrated aliases for Amyloidosis Aa:

Name: Amyloidosis Aa 49
Aa Amyloidosis 49 55 28 69
Reactive Systemic Amyloidosis 69
Inflammatory Amyloidosis 55
Amyloid a Amyloidosis 49
Secondary Amyloidosis 55
Amyloidosis Secondary 51
Reactive Amyloidosis 55

Characteristics:

Orphanet epidemiological data:

55
aa amyloidosis
Inheritance: Multigenic/multifactorial;

Classifications:



Summaries for Amyloidosis Aa

NIH Rare Diseases : 49 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. Last updated: 1/3/2014

MalaCards based summary : Amyloidosis Aa, also known as aa amyloidosis, is related to muckle-wells syndrome and amyloidosis, hereditary, transthyretin-related, and has symptoms including malnutrition, venous thrombosis and abnormality of oral mucosa. 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 spleen, and related phenotype is homeostasis/metabolism.

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 81)
# Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 32.0 CRP MEFV
2 amyloidosis, hereditary, transthyretin-related 32.0 APOA1 TTR
3 familial mediterranean fever 31.2 CRP MEFV SAA1 SAA2 SAA4
4 amyloidosis 28.8 APOA1 B2M MEFV SAA1 SAA2 SAA4
5 periodic fever, familial, autosomal dominant 11.0
6 myeloma, multiple 10.5
7 bronchus cancer 10.4 CRP SAA1
8 unicentric castleman disease 10.4 CRP SAA4
9 hyper-igd syndrome 10.4 CRP SAA1
10 cryopyrin-associated periodic syndrome 10.4 CRP SAA4
11 blepharochalasis 10.4 SAA1 TTR
12 relapsing fever 10.4 CRP MEFV
13 hypersensitivity vasculitis 10.3 CRP MEFV
14 hypersensitivity reaction type iii disease 10.3 CRP MEFV
15 decubitus ulcer 10.3 CRP TTR
16 pharyngitis 10.3 CRP MEFV
17 polyarteritis nodosa 10.3 CRP MEFV
18 wells syndrome 10.3 CRP MEFV
19 adult-onset still's disease 10.3 CRP MEFV
20 tibial neuropathy 10.3 B2M TTR
21 tarsal tunnel syndrome 10.3 B2M TTR
22 median rhomboid glossitis 10.3 B2M TTR
23 analbuminemia 10.3 CRP TTR
24 pyelitis 10.3 B2M CRP
25 renal tuberculosis 10.3 B2M CRP
26 nerve compression syndrome 10.2 B2M TTR
27 amyloid tumor 10.2 B2M TTR
28 amyloid neuropathy 10.2 APOA1 TTR
29 palindromic rheumatism 10.2 CRP MEFV
30 dysentery 10.2 CRP TTR
31 retinitis pigmentosa 7 10.2 B2M TTR
32 kwashiorkor 10.2 LCAT TTR
33 pleurisy 10.2 CRP MEFV
34 ischemic heart disease 10.2 APOA1 CRP
35 apo a-i deficiency 10.2 APOA1 LCAT
36 pericarditis 10.2 CRP MEFV
37 familial lcat deficiency 10.2 APOA1 LCAT
38 fish-eye disease 10.1 APOA1 LCAT
39 hemorrhagic fever with renal syndrome 10.1 B2M CRP
40 hypobetalipoproteinemia, familial, 1 10.1 APOA1 LCAT
41 fetal macrosomia 10.1 APOA1 LCAT
42 peritonitis 10.1 B2M CRP MEFV
43 brucellosis 10.1 CRP MEFV
44 hypoalphalipoproteinemia, primary 10.0 APOA1 LCAT
45 pelvic inflammatory disease 10.0 CRP CTSB
46 carotenemia 10.0 LPA TTR
47 chronic kidney failure 10.0 B2M CRP TTR
48 testicular yolk sac tumor 10.0 APOA1 TTR
49 hereditary amyloidosis 9.9 APOA1 B2M TTR
50 leukodystrophy, hypomyelinating, 3 9.9 APOA1 LPA

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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malnutrition 55 31 frequent (33%) Frequent (79-30%) HP:0004395
2 venous thrombosis 55 31 frequent (33%) Frequent (79-30%) HP:0004936
3 abnormality of oral mucosa 55 31 frequent (33%) Frequent (79-30%) HP:0011830
4 chronic kidney disease 55 31 frequent (33%) Frequent (79-30%) HP:0012622
5 acute kidney injury 55 31 occasional (7.5%) Occasional (29-5%) HP:0001919
6 hypothyroidism 55 31 very rare (1%) Very rare (<4-1%) HP:0000821
7 adrenal insufficiency 55 31 very rare (1%) Very rare (<4-1%) HP:0000846
8 abnormal heart morphology 55 31 very rare (1%) Very rare (<4-1%) HP:0001627
9 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
10 nephropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000112
11 renal amyloidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001917
12 hypotension 55 31 hallmark (90%) Very frequent (99-80%) HP:0002615
13 nephrotic syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0000100
14 enlarged kidney 55 31 frequent (33%) Frequent (79-30%) HP:0000105
15 cholestasis 55 31 frequent (33%) Frequent (79-30%) HP:0001396
16 vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002013
17 nausea 55 31 frequent (33%) Frequent (79-30%) HP:0002018
18 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
19 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
20 chronic diarrhea 55 31 frequent (33%) Frequent (79-30%) HP:0002028
21 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
22 abnormality of the kidney 55 Very frequent (99-80%)
23 amyloidosis 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Amyloidosis Aa:

43
# 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 19)
# 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
Melphalan Approved Phase 2 148-82-3 460612 4053
4
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
5
Daratumumab Approved Phase 2 945721-28-8
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Antimalarials Phase 2
9 Antiprotozoal Agents Phase 2
10 Antiparasitic Agents Phase 2
11 Alkylating Agents Phase 2
12 Nitrogen Mustard Compounds Phase 2
13 Antibodies, Monoclonal Phase 2
14 Immunoglobulins Phase 2
15 Immunosuppressive Agents Phase 2
16 Antibodies Phase 2
17 alanine Nutraceutical Phase 2
18 phenylalanine Nutraceutical Phase 2
19
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 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 28

Anatomical Context for Amyloidosis Aa

MalaCards organs/tissues related to Amyloidosis Aa:

38
Kidney, Liver, Spleen, Heart, Bone

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

# Title Authors Year
1
Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa. ( 7615888 )
1995
2
Reversal of nephrotic syndrome due to reactive amyloidosis (AA-type) after excision of localized Castleman's disease. ( 7910717 )
1994
3
Pulmonary nodules due to reactive systemic amyloidosis (AA) in Crohn's disease. ( 8303644 )
1993
4
Secondary amyloidosis (AA). ( 1474356 )
1992
5
Amyloidosis (AA type) with gastrointestinal involvement: resolution of gastric amyloid deposition in parallel with disappearance of the serum component of amyloid A protein. ( 2232367 )
1990
6
Resolution of amyloidosis (AA type) complicating chronic ulcerative colitis. ( 3396825 )
1988
7
Amyloidosis (AA type) associated with nodular nonsuppurative panniculitis. ( 6625383 )
1983

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 9.91 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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.5 APOA1 MEFV SAA1
2 phosphatidylcholine biosynthetic process GO:0006656 9.46 APOA1 LCAT
3 cellular protein metabolic process GO:0044267 9.46 APOA1 B2M SAA1 TTR
4 cholesterol transport GO:0030301 9.43 APOA1 LCAT
5 reverse cholesterol transport GO:0043691 9.4 APOA1 LCAT
6 high-density lipoprotein particle remodeling GO:0034375 9.37 APOA1 LCAT
7 lipoprotein biosynthetic process GO:0042158 9.26 APOA1 LCAT
8 positive chemotaxis GO:0050918 9.13 SAA1 SAA2 SAA4
9 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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