MCID: AMY004
MIFTS: 65

Amyloidosis malady

Summaries for Amyloidosis

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8Disease Ontology, 33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. the deposits can collect in organs such as the kidney and heart. this can cause the organs to become stiff and unable to work the way they should. there are three main types of amyloidosis: primary - with no known cause secondary - caused by another disease, including some types of cancer familial - passed down through genes symptoms can vary, depending upon which organs are affected. treatment depends on the type of amyloidosis you have. the goal is to help with symptoms and limit the production of proteins. if another disease is the cause, it needs to be treated.

MalaCards: Amyloidosis, also known as amyloid disease, is related to familial mediterranean fever and arthritis. An important gene associated with Amyloidosis is GSN (gelsolin), and among its related pathways are Disease and Signaling by GPCR. The drugs acetylcysteine and colchicine and the compounds lipid and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related mouse phenotypes are homeostasis/metabolism and immune system.

Disease Ontology:8 An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.

Wikipedia:63 In medicine, amyloidosis refers to a variety of conditions wherein normally soluble proteins become... more...

Aliases & Classifications for Amyloidosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 27ICD9CM, 34MeSH, 39NCIt, 56SNOMED-CT
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Aliases & Descriptions:

amyloidosis 8 10 44 33 60
amyloid disease 8


External Ids:

Disease Ontology8 DOID:9120
ICD9CM27 277.30, 277.3
MeSH34 D000686
NCIt39 C2868

Related Diseases for Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases in the Amyloidosis family:

Amyloidosis Aa Al Amyloidosis
Primary Localized Amyloidosis

Diseases related to Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 489)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever31.0SAA2, SAA4, SAA1, MEFV, GSN
2arthritis30.9SAA4, SAA1, MEFV, B2M, LYZ
3familial transthyretin amyloidosis30.9APOA1, TTR, GSN
4rheumatoid arthritis30.9SAA2, SAA4, SAA1, CST3, APOA1, MEFV
5finnish type amyloidosis30.7APOE, TTR, GSN
6hepatitis30.7TTR
7nephrotic syndrome30.7APOA1, APOE, B2M, FGA
8hereditary amyloidosis30.6APOA1, TTR, GSN
9alzheimer's disease30.6SAA4, CST3, APP, APOE, FPR2, TTR
10polyneuropathy30.6APOA2, TTR, GSN
11neuropathy30.5TTR
12proteinuria30.5SAA4, CST3, APOA1, APOA2, B2M, FGA
13familial visceral amyloidosis30.5LYZ, FGA, APOA1
14cerebral amyloid angiopathy30.3CST3, APP, APOE, TTR
15crohn's disease30.3LYZ
16amyloidosis, secondary30.3SAA2, SAA4, SAA1, APOA1, MEFV, B2M
17dementia30.2CST3, APP, APOE
18leukemia30.2OSMR, B2M, FGA, FPR1, TTR, LYZ
19hypertension30.1APOE, APOA1, CST3
20peritonitis30.1B2M, MEFV
21amyloid tumor30.1SAA2, SAA4, CST3, APP, APOE, APOA2
22vasculitis30.0MEFV, FGA
23amyloidosis, renal29.9TTR, SAA2, SAA4, SAA1, APOA1, APOA2
24cerebrovascular disease29.9APOE, APP, APOA1, CST3
25pneumonia29.9FGA, SAA4
26dermatitis29.9FPR2
27atherosclerosis29.8SAA4, SAA1, CST3, APOA1, APOE, APOA2
28diabetes mellitus29.8CST3, APOA1, APOE, APOA2, B2M, FGA
29myositis29.8APP
30myocardial infarction29.6SAA4, SAA1, CST3, APOA1, APOE, APOA2
31chronic kidney failure29.6CST3, APOA1, B2M, FGA, TTR
32obesity29.6SAA4, APOA1, APOE, APOA2
33hyperhomocysteinemia29.6CST3, APOE, TTR
34prion disease29.6CST3, APP, FPR2
35creutzfeldt-jakob syndrome29.6APOE, APP, CST3
36vascular disease29.6CST3, APOA1, APOE, FGA
37hypothyroidism29.6TTR, CST3
38hepatitis b29.6APOA1
39inclusion body myositis29.6APP
40hyperthyroidism29.6APOA2
41multiple sclerosis29.6CST3, APOA1, APOE
42uremia29.6B2M
43type 2 diabetes mellitus29.6CST3, APOA1, APOE, APOA2
44hereditary cerebral amyloid angiopathy29.6APP
45hyperparathyroidism29.6RET
46cadasil29.6FGA, APOE, CST3, SAA4
47cerebral atherosclerosis29.6APOA1
48age related macular degeneration29.6APOE
49down syndrome29.6APP, APOE
50transthyretin amyloidosis10.9

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to amyloidosis

Clinical Features for Amyloidosis

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Drugs & Therapeutics for Amyloidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Amyloidosis

Search NIH Clinical Center for Amyloidosis

Search CenterWatch for Amyloidosis

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Amyloidosis

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Anatomical Context for Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Amyloidosis:

32
Heart, Liver, Kidney, Bone, Brain, Bone marrow, Skin, Colon, B cells, Thyroid, Lung, Breast, Testes, Spinal cord, Tongue, Endothelial, Eye, Salivary gland, Spleen, Pancreatic islet, Tonsil, Small intestine, Lymph node, Trachea, T cells, Monocytes, Myeloid, Testis, Prostate, Pituitary

Animal Models for Amyloidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.2GSN, SAA1, CST3, APOA1, APP, APOE
2MP:000538711.0APOA1, APP, APOE, MEFV, B2M, RET
3MP:001077110.9APP, APOE, MEFV, B2M, FGA, GSN
4MP:000539710.9APOA1, APOE, OSMR, MEFV, B2M, RET
5MP:000537910.5APOA1, B2M, RET, FGA, FPR1, GSN

Publications for Amyloidosis

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Sources:
50PubMed
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Articles related to Amyloidosis:

(show top 50)    (show all 2510)
idTitleAuthorsYear
1
Secondary amyloidosis in ankylosing spondylitis. (23283540)
2013
2
Autologous stem cell transplantation in light-chain amyloidosis patients: a single-center experience in Korea. (23914780)
2013
3
Medical image. Raccoon eyes in amyloidosis. (24045358)
2013
4
Clinical presentation, treatment, and prognosis of periocular and orbital amyloidosis in a university-based referral center. (23658478)
2013
5
Amyloid goiter associated with amyloidosis secondary to rheumatoid arthritis. (24368922)
2013
6
Erectile dysfunction associated with bortezomib treatment in a patient with multiple myeloma and amyloidosis. (23084404)
2013
7
Isolated atrial amyloidosis and the importance of molecular classification. (24082415)
2013
8
A phase 1/2 study of lenalidomide with low-dose oral cyclophosphamide and low-dose dexamethasone (RdC) in AL amyloidosis. (22517904)
2012
9
Raccoon eyes in systemic AL amyloidosis. (21477158)
2011
10
Doxycycline reduces fibril formation in a transgenic mouse model of AL amyloidosis. (21998211)
2011
11
Rate of progression of transthyretin amyloidosis. (21550574)
2011
12
Transcutaneous electrical nerve stimulation for reduction of pruritus in macular amyloidosis and lichen simplex. (21352317)
2011
13
Secondary renal amyloidosis in a 13-year-old girl with bronchiectasis. (21189954)
2010
14
Primary bladder amyloidosis--case report of a patient with delayed upper urinary tract obstruction 3 years after the diagnosis. (20132089)
2010
15
Is the urinary protein excretion pattern compatible with renal morphological findings in renal amyloidosis? (19142804)
2009
16
Potentiation of fluindione or warfarin by dexamethasone in multiple myeloma and AL amyloidosis. (17692552)
2007
17
Current treatment in cardiac amyloidosis. (17078911)
2006
18
The amino acid sequence of an AL-protein, AL-KH, isolated from the heart of a patient with Waldenstroms macroglobulinemia and amyloidosis. (17107886)
2006
19
Clinical image: bilateral black eyes (raccoon's eyes) in AL amyloidosis. (17075892)
2006
20
Quantitative serum free light chain assay in the diagnostic evaluation of AL amyloidosis. (16399645)
2005
21
Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation. (15502844)
2004
22
Kidney and anemia in familial amyloidosis type I. (15496172)
2004
23
Continuous ambulatory peritoneal dialysis in familial Mediterranean fever amyloidosis patients with end-stage renal failure: a single-centre experience from Turkey. (15627789)
2004
24
Tolerability and efficacy of thalidomide for the treatment of patients with light chain-associated (AL) amyloidosis. (12672274)
2003
25
Pathology of the temporomandibular joint of patients with rheumatoid arthritis--case reports of secondary amyloidosis and macrophage populations. (12914711)
2003
26
Chyloperitoneum in a peritoneal dialysis patient with primary AL amyloidosis. (12938834)
2003
27
Fibrillogenesis in gelsolin-related familial amyloidosis. (14640038)
2003
28
Nephrotic syndrome due to primary AL amyloidosis, successfully treated with VAD and subsequent high-dose melphalan followed by autologous peripheral blood stem cell transplantation. (12583623)
2003
29
Laryngeal amyloidosis: a rare cause of laryngocele. (11852212)
2002
30
Etanercept AL amyloidosis. (11556345)
2001
31
Clinical and histopathological characteristics of primary cutaneous amyloidosis in 794 Chinese patients. (11355326)
2001
32
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
33
Macular amyloidosis due to friction by a horsehair glove. (10681626)
2000
34
Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. (10455100)
1999
35
SAA1 alleles as risk factors in reactive systemic AA amyloidosis. (10036584)
1998
36
99mTc-HSA-D scintigraphy in the diagnosis of protein-losing gastroenteropathy due to secondary amyloidosis. (9058299)
1997
37
Primary localized amyloidosis of the eyelid: two cases of immunoglobulin light chain-derived proteins, subtype lambda V respectively lambda VI. (8918586)
1996
38
Diffuse alveolar septal amyloidosis associated with multiple myeloma (IgA lambda type)]. (8778472)
1996
39
Resolution of heart failure in patients with AL amyloidosis. (8779461)
1996
40
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I--A review of clinical, radiologic and genetic aspects. (8737926)
1996
41
Goitre and severe autonomic neuropathy due to secondary amyloidosis in a renal transplant patient. (8738674)
1996
42
Difficulties in the therapy of primary amyloidosis]. (7975364)
1994
43
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. (8383491)
1993
44
Primary localized amyloidosis of urethra. (2038796)
1991
45
Parenchymal preamyloid and amyloid deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis--Dutch type. (2274275)
1990
46
Thyroid amyloidosis with recurrent subacute thyroiditis-like syndrome. (3379135)
1988
47
A monoclonal anti-keratin antibody reactive with amyloid deposit of primary cutaneous amyloidosis. (2449480)
1987
48
Systemic reactive amyloidosis caused by hepatocellular adenoma. A case report. (3722793)
1986
49
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. (3982473)
1985
50
The sick sinus syndrome in familial amyloidosis with polyneuropathy. (6578204)
1983

Genetic Variations for Amyloidosis

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Expression for genes affiliated with Amyloidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis

Search GEO for disease gene expression data for Amyloidosis.

Pathways for genes affiliated with Amyloidosis

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 49PharmGKB
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Pathways related to Amyloidosis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
111.1SAA1, CST3, APOA1, APP, APOE, APOA2
2
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11.0SAA1, APOA1, APP, APOE, APOA2, FGA
3
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10.9SAA1, CST3, APOA1, APP, B2M, FGA
410.7FPR2, FPR3, FPR1, APP, SAA1
5
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10.7FPR2, FPR3, FPR1, APP, SAA1
6
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10.7APOA1, APOE, APOA2, TTR
710.7SAA2, SAA4, SAA1, APOA1
810.7SAA2, SAA4, SAA1, APOA1
9
Hide members
10.6APOA1, APP, FGA
1010.6FPR2, APOE, APP
11
Hide members
10.6APOE, APOA1, SAA1
12
Hide members
10.6APOA1, APOE, APOA2
13
Hide members
10.6APOA2, APOE, APOA1
1410.6FPR1, FPR3, FPR2
1510.6APOA1, SAA1
1610.6APP, SAA1

Compounds for genes affiliated with Amyloidosis

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1lipid4411.6APOA1, APP, APOA2, APOE, SAA1, SAA4
2cholesterol44 28 11 2414.5FGA, SAA4, SAA1, CST3, APOA1, APP
3alanine4411.5GSN, FPR1, RET, B2M, SAA1, APOE
4fibrinogen4411.4CST3, FGA, SAA4, APOA2, APOA1, GSN
5dexamethasone44 49 28 1114.4SAA1, SAA2, APOA1, TTR, FPR2, FPR1
6creatinine4411.3TTR, FGA, B2M, APOE, CST3, APP
7aspartate4411.3APOE, CST3, RET, B2M, APP, APOA1
8calcium44 49 11 2414.3SAA1, SAA4, RET, CST3, GSN, FPR1
9retinoic acid44 2412.3RET, APOA1, APP, APOA2, GSN, B2M
10vitamin b124411.2APOA1, APOE, B2M, FPR1, CST3, TTR
11serine4411.2RET, FPR1, APP, FGA, B2M, APOA2
12leucine4411.2MEFV, RET, FPR1, TTR, GSN, CST3
13endotoxin4411.2SAA4, GSN, FPR1, FGA, MEFV, SAA1
14testosterone44 59 11 2414.2APOE, APP, RET, TTR, GSN, B2M
15thioflavin t4411.2APP, APOE, TTR, GSN, B2M
16aspirin44 49 28 2414.2TTR, APOA1, APP, APOE, FGA, FPR2
17valine4411.2APP, APOE, B2M, RET, TTR, SAA1
18methionine4411.2RET, TTR, MEFV, APOA2, CST3, GSN
19arginine4411.1TTR, RET, APOA2, SAA1, APP, CST3
20uric acid44 2412.1TTR, B2M, SAA4, CST3, APOA1
21glucose4411.1APOA1, APOA2, GSN, SAA4, CST3, SAA1
22cyclosporin a44 28 5913.1CST3, TTR, FPR1, B2M, APOE, APP
23iohexol4411.1CST3, FGA, APOA1, B2M
24homocysteine44 2412.1SAA4, CST3, APOA1, APOE, TTR
25glutamine4411.1APOE, B2M, APOA2, APP, CST3, TTR
26folate4411.1TTR, B2M, CST3, APOE, APP
27cellulose acetate4411.1TTR, FGA, CST3, B2M
28captopril44 28 49 59 1115.1CST3, APOA1, B2M, APP
29annexin i-(2-26)2811.1FPR1, FPR2, FPR3
30boc-mlf5911.0FPR2, FPR3, FPR1
31mmk 15911.0FPR3, FPR1, FPR2
32fmet-met-tyr-ala-leu-phe2811.0FPR2, FPR3, FPR1
33wkymvm59 2812.0FPR1, FPR2, FPR3
34wrw45911.0FPR2, FPR3, FPR1
35vitamin a44 11 2413.0CST3, APOA1
36heparin44 28 11 2414.0FPR1, APP, APOA2, FGA
37retinyl palmitate44 2412.0APOE, APOA1, TTR
38dimyristoylphosphatidylcholine4410.9APOE, APOA1, APOA2
39latex4410.9CST3, FGA, GSN, SAA4
40intralipid4410.9APOE, APOA2, APOA1
41alpha tocopherol4410.9TTR, APOE, SAA4, APOA1
42sodium dodecylsulfate4410.9GSN, APOE, APP, TTR
43t-boc-flflf2810.8FPR2, FPR1
44wrwwww2810.7FPR2, FPR3
45fmet-leu-phe2810.7FPR1, FPR2
46hp(2-20)2810.6FPR2, FPR3
47fmet-ile-val-thr-leu-phe2810.6FPR1, FPR2
48cyclosporin h44 2811.6FPR1, FPR2
49humanin2810.5FPR2, FPR3
50polysulfone4410.3B2M, FGA, CST3

GO Terms for genes affiliated with Amyloidosis

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16Gene Ontology
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Cellular components related to Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.2APP, APOA1, CST3, SAA1, SAA4, APOE
2extracellular spaceGO:00561511.0CST3, APOA1, APOE, B2M, FGA, TTR
3high-density lipoprotein particleGO:03436410.9APOA2, APOE, APOA1, SAA1, SAA4, SAA2
4endocytic vesicle lumenGO:07168210.6APOE, APOA1, SAA1
5chylomicronGO:04262710.6APOA2, APOE
6very-low-density lipoprotein particleGO:03436110.5APOA1, APOE, APOA2
7spherical high-density lipoprotein particleGO:03436610.3APOA2, APOA1

Biological processes related to Amyloidosis according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of inflammatory responseGO:05072811.1SAA1, APOA1, APOE, MEFV
2retinoid metabolic processGO:00152311.1APOA1, APOE, APOA2, TTR
3cholesterol metabolic processGO:00820311.0APOA1, APP, APOE, APOA2
4phototransduction, visible lightGO:00760311.0APOA1, APOE, APOA2, TTR
5high-density lipoprotein particle assemblyGO:03438011.0APOA2, APOE, APOA1
6high-density lipoprotein particle clearanceGO:03438411.0APOA1, APOE, APOA2
7positive regulation of cholesterol esterificationGO:01087311.0APOA2, APOE, APOA1
8phospholipid effluxGO:03370011.0APOA1, APOE, APOA2
9high-density lipoprotein particle remodelingGO:03437511.0APOA2, APOE, APOA1
10reverse cholesterol transportGO:04369111.0APOA1, APOE, APOA2
11cholesterol effluxGO:03334411.0APOA2, APOE, APOA1
12lipoprotein metabolic processGO:04215710.9APOA1, APOE, APOA2
13acute-phase responseGO:00695310.9SAA2, SAA4, SAA1
14negative regulation of lipase activityGO:06019210.9APOA1, APOA2
15negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.9APOA1, APOA2
16regulation of Cdc42 protein signal transductionGO:03248910.9APOA1, APOE
17regulation of intestinal cholesterol absorptionGO:03030010.9APOA1, APOA2
18lipoprotein biosynthetic processGO:04215810.8APOA1, APOE
19protein oxidationGO:01815810.8APOA1, APOA2
20cholesterol homeostasisGO:04263210.8APOA2, APOE, APOA1
21platelet activationGO:03016810.8FGA, APP, APOA1, SAA1
22peripheral nervous system axon regenerationGO:01401210.8APOA1, APOE
23negative regulation of cytokine secretion involved in immune responseGO:00274010.8APOA1, APOA2
24peptidyl-methionine modificationGO:01820610.7APOA1, APOA2
25platelet degranulationGO:00257610.7FGA, APP, APOA1
26nitric oxide mediated signal transductionGO:00726310.6FPR1, APOE
27low-density lipoprotein particle remodelingGO:03437410.6APOE, APOA2
28cellular component movementGO:00692810.5FPR2, FPR3, FPR1
29G-protein coupled receptor signaling pathwayGO:00718610.4APOA1, APOE, FPR1, FPR2

Molecular functions related to Amyloidosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:04280211.0APOA1, APP, APOE, B2M, TTR, LYZ
2phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.9APOA2, APOE, APOA1
3N-formyl peptide receptor activityGO:00498210.8FPR2, FPR3, FPR1
4cholesterol transporter activityGO:01712710.8APOA1, APOE, APOA2
5beta-amyloid bindingGO:00154010.8APOE, APOA1, CST3
6high-density lipoprotein particle receptor bindingGO:07065310.7APOA1, APOA2
7apolipoprotein receptor bindingGO:03419010.6APOA1, APOA2
8lipid transporter activityGO:00531910.6APOA2, APOE
9lipase inhibitor activityGO:05510210.5APOA2, APOA1
10high-density lipoprotein particle bindingGO:00803510.3APOA2, APOA1

Products for genes affiliated with Amyloidosis

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet