MCID: AMY004
MIFTS: 65

Amyloidosis malady

Summaries for Amyloidosis

About this section
Sources:
8Disease Ontology, 33MedlinePlus, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 27ICD9CM, 34MeSH, 39NCIt, 56SNOMED-CT
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Amyloidosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Amyloidosis

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.2GSN, APP, APOE, APOA2, MEFV, IL31RA
2MP:000538711.0FPR1, IL31RA, FGA, RET, B2M, MEFV
3MP:001077110.9APP, APOE, MEFV, B2M, FGA, GSN
4MP:000539710.9RET, OSMR, APOA1, B2M, MEFV, FGA
5MP:000537910.5B2M, GSN, FPR1, RET, FGA, APOA1

Publications for Amyloidosis

About this section
Sources:
50PubMed
See all sources

Articles related to Amyloidosis:

(show top 50)    (show all 2510)
idTitleAuthorsYear
1
Non-light-chain immunoglobulin amyloidosis: time to expand or refine the spectrum to include light+heavy chain amyloidosis? (23446254)
2013
2
Effectiveness of skeletal scintigraphy in transthyretin-related amyloidosis. (23916782)
2013
3
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. (23193943)
2013
4
MRI differentiation of cardiomyopathy showing left ventricular hypertrophy and heart failure: differentiation between cardiac amyloidosis, hypertrophic cardiomyopathy, and hypertensive heart disease. (23996116)
2013
5
Chronic anti-murine AI^ immunization preserves odor guided behaviors in an Alzheimer's I^-amyloidosis model. (23000537)
2013
6
Amyloidosis is a rare disease in which insoluble extracellular protein fibrils in I^-pleated sheets infiltrate multiple organs, causing organ dysfunction and failure. Introduction. (23337444)
2013
7
WaldenstrAPm's macroglobulinemia associated with serum amyloid A protein amyloidosis: pitfalls in diagnosis and successful treatment with melphalan-based autologous stem cell transplant. (23689541)
2013
8
Primary tracheobronchial amyloidosis: coronal CT scan may provide clues for early diagnosis. (24029203)
2013
9
Rapidly progressive glomerulonephritis in a patient with renal amyloidosis: Case report and review of the literature. (23326051)
2012
10
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. (22771637)
2012
11
A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms. (22978355)
2012
12
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles. (23185504)
2012
13
Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. (22412233)
2012
14
Reactive amyloidosis associated with ischial callosititis: a report with histology of ischial callosities in rhesus macaques (Macaca mulatta). (23104953)
2012
15
Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis]. (22311483)
2012
16
Is there a real adrenal axis dysfunction in patients with amyloidosis associated with familial Mediterranean fever? (22057137)
2012
17
Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. (22301727)
2012
18
Functional correlates of N-terminal natriuretic peptide type B (NT-proBNP) response to therapy in cardiac light chain (AL) amyloidosis. (21838447)
2011
19
A rare case of reversible acquired AA-type renal amyloidosis in a chronic filariasis patient receiving antifilarial therapy. (21519822)
2011
20
Human microvascular dysfunction and apoptotic injury induced by AL amyloidosis light chain proteins. (21963839)
2011
21
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
22
Lenalidomide in combination with melphalan and dexamethasone in patients with newly diagnosed AL amyloidosis: a multicenter phase 1/2 dose-escalation study. (20724537)
2010
23
Chyloperitoneum: is secondary amyloidosis a possible cause? (19776056)
2009
24
Presumptive service connection for disease associated with exposure to certain herbicide agents: AL amyloidosis. Final rule. (19507326)
2009
25
Another devastating complication of the Schnitzler syndrome: AA amyloidosis. (17941941)
2008
26
AH amyloidosis associated with lymphoplasmacytic lymphoma secreting a monoclonal gamma heavy chain carrying an unusual truncated D segment. (16632032)
2006
27
HLA-DRB1*04 alleles in Japanese rheumatoid arthritis patients with AA amyloidosis. (17086601)
2006
28
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. (15604878)
2005
29
Co-existent crescentic glomerulonephritis and renal amyloidosis: a case report and literature review. (16299691)
2005
30
The effect of high-flux hemodialysis on dialysis-associated amyloidosis. (15717632)
2005
31
Prevalence of secondary amyloidosis in Asian North Indian patients with rheumatoid arthritis. (12734887)
2003
32
Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. (11972529)
2002
33
Beta 2-microglobulin and dialysis-related amyloidosis]. (11307323)
2001
34
Immunologic recovery after autologous blood stem cell transplantation in patients with AL-amyloidosis. (11803350)
2001
35
Secondary amyloidosis in chronic rheumatic diseases. (11225132)
2001
36
Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis. (10854214)
2000
37
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
38
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. (10234504)
1999
39
Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. (9701270)
1998
40
Secondary microvascular degeneration in amyloid angiopathy of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D). (9542588)
1998
41
Allogeneic bone marrow transplantation for systemic AL amyloidosis. (9450816)
1998
42
Atrophic outpouchings of abdominal skin. Nodular cutaneous amyloidosis. (8629833)
1996
43
Cerebral amyloid angiopathy and plaques, and visceral amyloidosis in aged macaques. (8744409)
1996
44
Nodular cutaneous amyloidosis. (1928625)
1991
45
Hypocholesterolaemia in cases of nephrotic syndrome with secondary amyloidosis. (3171202)
1988
46
Two different pathogenetic pathways in lichen amyloidosus and macular amyloidosis. (2425754)
1986
47
Secondary amyloidosis in rhesus monkeys with chronic indwelling venous catheters. (6513513)
1984
48
Secondary amyloidosis and sicca syndrome. (7417359)
1980
49
Secondary localized cutaneous amyloidosis associated with actinic keratosis. (4749463)
1973
50
Amyloidosis associated with multiple myeloma, originally suggestive of lipoid proteinosis. (5657397)
1968

Genetic Variations for Amyloidosis

About this section

Expression for genes affiliated with Amyloidosis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 49PharmGKB
See all sources

Pathways related to Amyloidosis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
111.1APOA1, CST3, SAA1, APP, APOE, APOA2
2
Hide members
11.0APOA2, FPR1, APP, APOA1, SAA1, FPR3
3
Hide members
10.9APOA1, TTR, B2M, FGA, CST3, SAA1
4
Hide members
10.7FPR1, FPR2, SAA1, APP, FPR3
510.7SAA1, APP, FPR1, FPR3, FPR2
6
Hide members
10.7APOA1, TTR, APOA2, APOE
710.7SAA1, APOA1, SAA4, SAA2
810.7SAA2, SAA1, SAA4, APOA1
9
Hide members
10.6FGA, APOA1, APP
1010.6FPR2, APP, APOE
11
Hide members
10.6SAA1, APOE, APOA1
12
Hide members
10.6APOA1, APOE, APOA2
13
Hide members
10.6APOA2, APOA1, APOE
1410.6FPR2, FPR3, FPR1
1510.6APOA1, SAA1
1610.6SAA1, APP

Compounds for genes affiliated with Amyloidosis

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1lipid4411.6GSN, FPR2, FPR1, FGA, RET, APOA2
2cholesterol44 28 11 2414.5TTR, SAA4, SAA1, CST3, APOE, FGA
3alanine4411.5GSN, TTR, APOA1, FPR1, RET, B2M
4fibrinogen4411.4GSN, TTR, FPR1, FGA, APOA1, SAA4
5dexamethasone44 49 28 1114.4SAA2, SAA4, SAA1, CST3, FPR1, APOA1
6creatinine4411.3APP, TTR, FGA, B2M, APOE, SAA4
7aspartate4411.3GSN, TTR, RET, APOE, APOA1, CST3
8calcium44 49 11 2414.3FGA, FPR1, FPR3, B2M, CST3, SAA1
9retinoic acid44 2412.3TTR, RET, B2M, APOA2, APP, APOA1
10vitamin b124411.2B2M, FPR1, CST3, TTR, APOE, APOA1
11serine4411.2FPR1, FGA, RET, APOA2, B2M, APP
12leucine4411.2CST3, APOA2, MEFV, RET, FPR1, TTR
13endotoxin4411.2SAA4, MEFV, FGA, FPR1, GSN, SAA1
14testosterone44 59 11 2414.2APOA1, B2M, GSN, TTR, RET, APOE
15thioflavin t4411.2APP, APOE, TTR, GSN, B2M
16aspirin44 49 28 2414.2APP, APOE, APOA1, FGA, FPR2, TTR
17valine4411.2APP, TTR, SAA1, RET, APOE, B2M
18methionine4411.2CST3, GSN, TTR, APOA2, RET, MEFV
19arginine4411.1RET, APOA2, APP, CST3, APOE, SAA1
20uric acid44 2412.1APOA1, SAA4, CST3, B2M, TTR
21glucose4411.1SAA1, SAA4, GSN, APOA2, CST3, APOA1
22cyclosporin a44 28 5913.1TTR, FPR1, B2M, APOE, CST3, APP
23iohexol4411.1CST3, FGA, B2M, APOA1
24homocysteine44 2412.1APOE, TTR, SAA4, APOA1, CST3
25glutamine4411.1APOE, CST3, APP, APOA2, B2M, TTR
26folate4411.1TTR, APOE, APP, CST3, B2M
27cellulose acetate4411.1TTR, CST3, B2M, FGA
28captopril44 28 49 59 1115.1B2M, APP, CST3, APOA1
29wrw45911.1FPR2, FPR3, FPR1
30mmk 15911.0FPR3, FPR1, FPR2
31fmet-met-tyr-ala-leu-phe2811.0FPR2, FPR1, FPR3
32annexin i-(2-26)2811.0FPR2, FPR3, FPR1
33boc-mlf5911.0FPR1, FPR3, FPR2
34wkymvm59 2812.0FPR3, FPR2, FPR1
35vitamin a44 11 2413.0CST3, APOA1
36heparin44 28 11 2414.0FPR1, FGA, APP, APOA2
37retinyl palmitate44 2412.0APOA1, APOE, TTR
38dimyristoylphosphatidylcholine4410.9APOE, APOA2, APOA1
39latex4410.9SAA4, CST3, FGA, GSN
40intralipid4410.9APOA1, APOE, APOA2
41alpha tocopherol4410.9APOA1, TTR, SAA4, APOE
42sodium dodecylsulfate4410.9APP, GSN, APOE, TTR
43fmet-leu-phe2810.8FPR1, FPR2
44t-boc-flflf2810.7FPR2, FPR1
45hp(2-20)2810.7FPR2, FPR3
46wrwwww2810.6FPR3, FPR2
47humanin2810.6FPR2, FPR3
48Serum albumin iodonated1110.6APOE, SAA1
49fmet-ile-val-thr-leu-phe2810.5FPR1, FPR2
50polysulfone4410.3CST3, B2M, FGA

GO Terms for genes affiliated with Amyloidosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Amyloidosis according to GeneCards/GeneDecks:

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

Biological processes related to Amyloidosis according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1retinoid metabolic processGO:00152311.1TTR, APOE, APOA1, APOA2
2negative regulation of inflammatory responseGO:05072811.0MEFV, APOE, APOA1, SAA1
3cholesterol metabolic processGO:00820311.0APOE, APP, APOA1, APOA2
4phototransduction, visible lightGO:00760311.0APOA1, TTR, APOA2, APOE
5high-density lipoprotein particle assemblyGO:03438011.0APOA1, APOA2, APOE
6high-density lipoprotein particle clearanceGO:03438411.0APOE, APOA2, APOA1
7positive regulation of cholesterol esterificationGO:01087311.0APOE, APOA2, APOA1
8phospholipid effluxGO:03370011.0APOE, APOA1, APOA2
9high-density lipoprotein particle remodelingGO:03437511.0APOA2, APOE, APOA1
10reverse cholesterol transportGO:04369111.0APOE, APOA1, APOA2
11cholesterol effluxGO:03334411.0APOA1, APOE, APOA2
12acute-phase responseGO:00695310.9SAA2, SAA4, SAA1
13lipoprotein metabolic processGO:04215710.9APOE, APOA1, APOA2
14negative regulation of lipase activityGO:06019210.9APOA2, APOA1
15negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.9APOA2, APOA1
16regulation of intestinal cholesterol absorptionGO:03030010.9APOA2, APOA1
17regulation of Cdc42 protein signal transductionGO:03248910.9APOA1, APOE
18protein oxidationGO:01815810.8APOA1, APOA2
19negative regulation of cytokine secretion involved in immune responseGO:00274010.8APOA2, APOA1
20cholesterol homeostasisGO:04263210.8APOA1, APOA2, APOE
21platelet activationGO:03016810.8APOA1, APP, SAA1, FGA
22lipoprotein biosynthetic processGO:04215810.8APOE, APOA1
23peripheral nervous system axon regenerationGO:01401210.8APOE, APOA1
24peptidyl-methionine modificationGO:01820610.7APOA2, APOA1
25platelet degranulationGO:00257610.7APOA1, APP, FGA
26nitric oxide mediated signal transductionGO:00726310.6APOE, FPR1
27low-density lipoprotein particle remodelingGO:03437410.6APOA2, APOE
28cellular component movementGO:00692810.5FPR2, FPR1, FPR3
29G-protein coupled receptor signaling pathwayGO:00718610.4APOE, APOA1, FPR2, FPR1

Molecular functions related to Amyloidosis according to GeneCards/GeneDecks:

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

Products for genes affiliated with Amyloidosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis

About this section
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