MCID: AMY009
MIFTS: 45

Amyloidosis Aa

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

Aliases & Classifications for Amyloidosis Aa

MalaCards integrated aliases for Amyloidosis Aa:

Name: Amyloidosis Aa 50
Aa Amyloidosis 50 56 29 69
Reactive Systemic Amyloidosis 69
Inflammatory Amyloidosis 56
Amyloid a Amyloidosis 50
Secondary Amyloidosis 56
Amyloidosis Secondary 52
Reactive Amyloidosis 56

Characteristics:

Orphanet epidemiological data:

56
aa amyloidosis
Inheritance: Multigenic/multifactorial;

Classifications:



Summaries for Amyloidosis Aa

NIH Rare Diseases : 50 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 proteinuria, nephrotic syndrome and enlarged kidney. An important gene associated with Amyloidosis Aa is SAA1 (Serum Amyloid A1), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. 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:

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 86)
id Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 32.0 CRP MEFV
2 amyloidosis, hereditary, transthyretin-related 11.0
3 periodic fever, familial 10.9
4 familial mediterranean fever, ar 10.9
5 diverticulitis of colon 10.7 CRP SAA1
6 uniparental disomy of chromosome 2 10.6 CRP SAA4
7 porokeratosis 3, multiple types 10.6 CRP SAA1
8 crystal arthropathies 10.6 CRP SAA4
9 necrobiosis lipoidica 10.6 SAA1 TTR
10 axillary adenitis 10.6 CRP MEFV
11 mechanical lagophthalmos 10.5 CRP MEFV
12 partial circumpapillary choroid dystrophy 10.5 CRP MEFV
13 dermatomycosis 10.5 CRP MEFV
14 pyrimidine metabolic disorder 10.5 CRP MEFV
15 speech and communication disorders 10.5 CRP TTR
16 milker's nodule 10.5 CRP TTR
17 hidradenitis 10.5 CRP MEFV
18 multiple myeloma 10.4
19 denture stomatitis 10.4 B2M TTR
20 tibial nerve palsy 10.4 B2M TTR
21 benign neonatal seizures 10.4 CRP MEFV
22 bacteriuria 10.4 B2M TTR
23 whistling face syndrome, recessive form 10.4 CRP MEFV
24 macular dystrophy, patterned, 1 10.4 B2M TTR
25 microcephaly 8, primary, autosomal recessive 10.4 CRP TTR
26 glycogen storage disease viii 10.4 B2M CRP
27 eustachian tube disease 10.4 B2M CRP
28 lung lymphoma 10.4 B2M TTR
29 pyosalpinx 10.4 B2M TTR
30 partial central choroid dystrophy 10.4 CRP MEFV
31 alopecia-mental retardation syndrome 3 10.4 B2M TTR
32 female infertility of uterine origin 10.4 LCAT TTR
33 patau syndrome 10.3 CRP MEFV
34 familial mediterranean fever, ad 10.3 CRP MEFV SAA1
35 carpal tunnel syndrome, familial 10.3 APOA1 TTR
36 islet cell tumor 10.3 APOA1 CRP
37 spastic entropion 10.3 CRP TTR
38 aquagenic syringeal acrokeratoderm 10.3 APOA1 LCAT
39 familial osteochondritis dissecans 10.3 APOA1 LCAT
40 short stature, brachydactyly, intellectual developmental disability, and seizures 10.3 APOA1 LCAT
41 louping ill 10.3 CRP MEFV
42 plummer's disease 10.2 B2M CRP
43 pancreas lymphoma 10.2 CRP MEFV
44 scabies 10.1 B2M CRP MEFV
45 fetal parvovirus syndrome 10.1 APOA1 LCAT
46 amyloidosis 10.1
47 hypervitaminosis a 10.1 LPA TTR
48 chronic myelomonocytic leukemia 10.1 B2M CRP TTR
49 mediastinum leiomyoma 10.0 CRP TTR
50 melorheostosis 10.0 APOA1 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:

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

MGI Mouse Phenotypes related to Amyloidosis Aa:

44
id 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 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Nutraceutical Phase 3 57-00-1 586
2
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
3 Anti-Bacterial Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antimalarials Phase 2
6 Antiparasitic Agents Phase 2
7 Antiprotozoal Agents Phase 2
8
Bexarotene Approved, Investigational Phase 1 153559-49-0 82146
9 Orange Approved, Nutraceutical Phase 1
10 Protective Agents Phase 1
11
Colchicine Approved 64-86-8 6167 2833
12 Fluorodeoxyglucose F18
13 Radiopharmaceuticals

Interventional clinical trials:


id 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 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
3 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
4 A Study to Evaluate the Effect of Bexarotene on Beta-Amyloid and Apolipoprotein E Metabolism in Healthy Subjects Completed NCT02061878 Phase 1 Bexarotene;Placebo
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
9 Brain Characterization of Amyloid Protein and Glucose Metabolism of ALFA Project Participants Recruiting NCT02685969
10 Brain Amyloid- Retention During Wakefulness and Following Emergence From Sleep in Healthy People Recruiting NCT02669225 Early Phase 1

Search NIH Clinical Center for Amyloidosis Aa

Genetic Tests for Amyloidosis Aa

Genetic tests related to Amyloidosis Aa:

id Genetic test Affiliating Genes
1 Aa Amyloidosis 29

Anatomical Context for Amyloidosis Aa

MalaCards organs/tissues related to Amyloidosis Aa:

39
Kidney, Liver, Spleen, Brain, Bone, Heart

Publications for Amyloidosis Aa

Articles related to Amyloidosis Aa:

id 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:

id Super pathways Score Top Affiliating Genes
1 10.27 APOA1 TTR

GO Terms for Amyloidosis Aa

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

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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