MCID: AMY004
MIFTS: 65

Amyloidosis malady

Summaries for Amyloidosis

Sources:
8Disease Ontology, 34MedlinePlus, 64Wikipedia, 33MalaCards
See all sources

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MedlinePlus:34 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 amyloidosis, secondary and hereditary amyloidosis. 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 skin, liver and tongue, 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:64 In medicine, amyloidosis refers to a variety of conditions wherein normally soluble proteins become... more...

Aliases & Classifications for Amyloidosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 27ICD9CM, 35MeSH, 40NCIt, 57SNOMED-CT
See all sources

Aliases & Descriptions:

amyloidosis 8 10 45 34 61
amyloid disease 8


External Ids:

Disease Ontology8 DOID:9120
ICD9CM27 277.30, 277.3
MeSH35 D000686
NCIt40 C2868

Related Diseases for Amyloidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Amyloidosis family:

familial visceral amyloidosis 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 460)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis, secondary31.5SAA2, SAA4, SAA1, APOA1, MEFV, B2M
2hereditary amyloidosis31.4APOA1, TTR, GSN
3amyloidosis, renal31.3TTR, SAA2, SAA4, SAA1, APOA1, APOA2
4familial mediterranean fever31.0SAA2, SAA4, SAA1, MEFV, GSN
5arthritis31.0SAA4, SAA1, MEFV, B2M, LYZ
6familial transthyretin amyloidosis30.9APOA1, TTR, GSN
7finnish type amyloidosis30.7APOE, TTR, GSN
8amyloid tumor30.6SAA2, SAA4, CST3, APP, APOE, APOA2
9amyloid neuropathy30.6TTR, APOA1, GSN
10familial visceral amyloidosis30.5LYZ, FGA, APOA1
11alzheimer's disease30.4SAA4, CST3, APP, APOE, FPR2, TTR
12cerebral amyloid angiopathy30.4CST3, APP, APOE, TTR
13crohn's disease30.4LYZ
14hereditary cerebral amyloid angiopathy30.2APP
15nephritis30.1B2M
16vasculitis30.0MEFV, FGA
17atherosclerosis29.8SAA4, SAA1, CST3, APOA1, APOE, APOA2
18sepsis29.6GSN, TTR, FPR1, FGA, CST3, SAA4
19insulin resistance29.6TTR, APOA2, APOA1, SAA1
20hyperhomocysteinemia29.6CST3, APOE, TTR
21creutzfeldt-jakob syndrome29.6APOE, APP, CST3
22vascular disease29.6CST3, APOA1, APOE, FGA
23inclusion body myositis29.6APP
24uremia29.6B2M
25cadasil29.6FGA, APOE, CST3, SAA4
26cerebral atherosclerosis29.6APOA1
27hypoalphalipoproteinemia29.6APOA1, APOA2
28transthyretin amyloidosis10.9
29al amyloidosis10.8
30primary cutaneous amyloidosis10.7
31amyloidosis cerebral10.7
32primary localized amyloidosis10.7
33macular amyloidosis10.7
34senile systemic amyloidosis10.6
35lichen amyloidosis10.6
36n syndrome10.6
37familial amyloidosis, finnish type10.5
38amyloidosis corneal10.5
39nodular cutaneous amyloidosis10.5
40macroglossia10.5
41light chain deposition disease10.4
42amyloidosis, hereditary renal10.4
43amyloidosis nodular localized cutaneous10.3
44leptomeningeal amyloidosis10.3
45multiple endocrine neoplasia10.3
46amyloidosis aa10.3
47lattice corneal dystrophy10.3
48castleman's disease10.3
49ankylosing spondylitis10.3
50spondylitis10.3

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to amyloidosis

Clinical Features for Amyloidosis

Drugs & Therapeutics for Amyloidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Amyloidosis

Anatomical Context for Amyloidosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Amyloidosis:

33
Skin, Liver, Tongue, Spinal cord, Brain, Kidney, Lymph node, Lung, Spleen, Bone marrow, Whole blood, Heart, Skeletal muscle, Small intestine, Colon, Thyroid, Salivary gland, Adrenal gland, Breast, Prostate, Testis, Tonsil, Myeloid, Monocytes, T cells, B cells, Endothelial, Cardiac myocytes, Atrioventricular node, Trachea, Pancreatic islet, Pituitary, Testis germ

Animal Models for Amyloidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Amyloidosis

Sources:
51PubMed
See all sources

Articles related to Amyloidosis:

(show top 50)    (show all 2511)
idTitleAuthorsYear
1
Fundus autofluorescence imaging in hereditary ATTR amyloidosis with ocular involvement. (23905621)
2013
2
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. (23638719)
2013
3
Diffuse pigmentation of back and arms: macular amyloidosis or other? (23737318)
2013
4
Depletion of Spleen Macrophages Delays AA Amyloid Development: A Study Performed in the Rapid Mouse Model of AA Amyloidosis. (24236094)
2013
5
Comparison of right ventricular longitudinal strain imaging, tricuspid annular plane systolic excursion, and cardiac biomarkers for early diagnosis of cardiac involvement and risk stratification in primary systematic (AL) amyloidosis: a 5-year cohort study: reply. (23362526)
2013
6
Primary localized cutaneous nodular amyloidosis successfully treated with cyclophosphamide. (23373889)
2013
7
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. (24125073)
2013
8
A solitary mediastinal mass due to localized AL amyloidosis: case report and review of the literature. (23461593)
2013
9
Light-chain amyloidosis presenting with rapidly progressive submucosal hemorrhage of the stomach. (24246158)
2013
10
Renal AA amyloidosis in a Castleman's disease patient. (23013971)
2012
11
AL amyloidosis: who, what, when, why, and where. (22489350)
2012
12
The occurrence of islet amyloid polypeptide amyloidosis in Japanese subjects. (22781911)
2012
13
Diagnostic value of abdominal wall fat pad biopsy in senile systemic amyloidosis. (22004460)
2011
14
Bortezomib in systemic AL amyloidosis: a single center experience. (21838467)
2011
15
Rotational mechanics of the left ventricle in AL amyloidosis. (21039810)
2010
16
Currents concepts on the immunopathology of amyloidosis. (19626465)
2010
17
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. (21091677)
2010
18
Radioimmunodetection of amyloid deposits in patients with AL amyloidosis. (20522711)
2010
19
Coexistence of primary AL amyloidosis and POEMS syndrome: efficacy of melphalan-dexamethasone and role of biochemical markers in monitoring the diseases course. (20029992)
2010
20
Behind heart failure syndrome: remember AL amyloidosis. Two case-reports. (21309362)
2010
21
Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. (19618439)
2009
22
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. (18179886)
2008
23
Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS. (17200500)
2007
24
ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene. (16329101)
2006
25
Systemic AL amyloidosis due to non-Hodgkin's lymphoma: an unusual clinicopathologic association. (14717777)
2004
26
Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. (15311281)
2004
27
Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. (12605128)
2003
28
A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. (12762139)
2003
29
Electron and immuno-electron microscopy of abdominal fat identifies and characterizes amyloid fibrils in suspected cardiac amyloidosis. (12440483)
2002
30
Disruption of corticocortical connections ameliorates amyloid burden in terminal fields in a transgenic model of Abeta amyloidosis. (12427835)
2002
31
Pathogenesis of beta2-microglobulin amyloidosis. (11148456)
2001
32
Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. (11703582)
2001
33
Laryngeal amyloidosis with laryngocele. (10474675)
1999
34
Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. (9525543)
1998
35
Localized amyloidosis of the seminal vesicle: identification of lactoferrin immunoreactivity in the amyloid material. (8870004)
1996
36
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. (8757765)
1996
37
Unusual bleeding manifestations in a case of primary amyloidosis with factor X deficiency but elevations of in vivo markers of thrombin formation and activity. (8585046)
1995
38
AA amyloidosis and AL amyloidosis. (8204969)
1993
39
Intestinal pseudo-obstruction in patients with amyloidosis: clinicopathologic differences between chemical types of amyloid protein. (8244111)
1993
40
Extensive macular amyloidosis associated with poikiloderma. (1634294)
1992
41
Amyloidosis of the vitreous body. Possibilities of diagnosis]. (1786932)
1991
42
Primary localized amyloidosis of the ureter associated with osseous metaplasia. (1771707)
1991
43
Twelve-year profile of a non-secretory myeloma with amyloidosis. (2282322)
1990
44
Severe secondary amyloidosis in a dog with dermatomyositis. (2474585)
1989
45
Nylon brush macular amyloidosis. (3579343)
1987
46
Secondary amyloidosis in a bull with Chediak-Higashi syndrome. (6713250)
1984
47
Erosive arthritis in hereditary amyloidosis. (6615565)
1983
48
Secondary amyloidosis: diagnosis from an endometrial biopsy. (6626292)
1983
49
Hereditary amyloidosis. (5533185)
1970
50
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969

Genetic Variations for Amyloidosis

Expression for genes affiliated with Amyloidosis

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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 50PharmGKB
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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1lipid4511.6APOA1, APP, APOA2, APOE, SAA1, SAA4
2cholesterol45 29 11 2414.5FGA, SAA4, SAA1, CST3, APOA1, APP
3alanine4511.5GSN, FPR1, RET, B2M, SAA1, APOE
4fibrinogen4511.4CST3, FGA, SAA4, APOA2, APOA1, GSN
5dexamethasone45 50 29 1114.4SAA1, SAA2, APOA1, TTR, FPR2, FPR1
6creatinine4511.3TTR, FGA, B2M, APOE, CST3, APP
7aspartate4511.3APOE, CST3, RET, B2M, APP, APOA1
8calcium45 50 11 2414.3SAA1, SAA4, FGA, CST3, FPR1, FPR3
9retinoic acid45 2412.3B2M, APOA1, APP, APOA2, GSN, TTR
10vitamin b124511.2APOA1, APOE, B2M, FPR1, CST3, TTR
11serine4511.2RET, FPR1, APP, FGA, B2M, APOA2
12leucine4511.2MEFV, RET, FPR1, TTR, GSN, CST3
13endotoxin4511.2SAA4, GSN, FPR1, FGA, MEFV, SAA1
14testosterone45 60 11 2414.2APOE, APP, RET, TTR, GSN, B2M
15thioflavin t4511.2APP, APOE, TTR, GSN, B2M
16aspirin45 50 29 2414.2TTR, APOA1, APP, APOE, FGA, FPR2
17valine4511.2APP, APOE, B2M, RET, TTR, SAA1
18methionine4511.2RET, TTR, MEFV, APOA2, CST3, GSN
19arginine4511.1TTR, RET, APOA2, SAA1, APP, CST3
20uric acid45 2412.1TTR, B2M, SAA4, CST3, APOA1
21glucose4511.1APOA1, APOA2, GSN, CST3, SAA4, SAA1
22cyclosporin a45 29 6013.1APP, TTR, FPR1, B2M, APOE, CST3
23iohexol4511.1CST3, FGA, APOA1, B2M
24homocysteine45 2412.1SAA4, CST3, APOA1, APOE, TTR
25glutamine4511.1CST3, APP, APOE, B2M, TTR, APOA2
26folate4511.1TTR, B2M, CST3, APOE, APP
27cellulose acetate4511.1TTR, FGA, CST3, B2M
28captopril45 29 50 60 1115.1CST3, APOA1, B2M, APP
29annexin i-(2-26)2911.1FPR1, FPR2, FPR3
30boc-mlf6011.0FPR2, FPR3, FPR1
31mmk 16011.0FPR3, FPR1, FPR2
32fmet-met-tyr-ala-leu-phe2911.0FPR2, FPR3, FPR1
33wkymvm60 2912.0FPR1, FPR2, FPR3
34wrw46011.0FPR2, FPR3, FPR1
35vitamin a45 11 2413.0CST3, APOA1
36heparin45 29 11 2414.0FPR1, FGA, APOA2, APP
37retinyl palmitate45 2412.0APOA1, APOE, TTR
38dimyristoylphosphatidylcholine4510.9APOA2, APOA1, APOE
39latex4510.9CST3, FGA, SAA4, GSN
40intralipid4510.9APOA2, APOA1, APOE
41alpha tocopherol4510.9APOE, SAA4, TTR, APOA1
42sodium dodecylsulfate4510.9GSN, APP, APOE, TTR
43fmet-leu-phe2910.8FPR2, FPR1
44fmet-ile-val-thr-leu-phe2910.7FPR2, FPR1
45t-boc-flflf2910.7FPR2, FPR1
46hp(2-20)2910.6FPR3, FPR2
47gemfibrozil45 29 1112.6APOE, APOA1, APOA2
48wrwwww2910.6FPR3, FPR2
49humanin2910.5FPR2, FPR3
50polysulfone4510.3B2M, FGA, CST3

GO Terms for genes affiliated with Amyloidosis

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
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet