MCID: AMY004
MIFTS: 63

Amyloidosis malady

Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Amyloidosis

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MedlinePlus:32 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 based summary: Amyloidosis, also known as amyloid disease, is related to hereditary amyloidosis and amyloidosis, hereditary, transthyretin-related, and has symptoms including everted lower lip vermilion, abnormality of the pinna and cutis laxa. An important gene associated with Amyloidosis is GSN (gelsolin), and among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. The drugs acetylcysteine and colchicine and the compounds t-boc-flflf and fmet-ile-val-thr-leu-phe have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Disease Ontology:9 An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.

Wikipedia:63 Amyloidosis is a rare disease that results from accumulation of inappropriately folded proteins. These... more...

Aliases & Classifications for Amyloidosis

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Amyloidosis, Aliases & Descriptions:

Name: Amyloidosis 9 11 43 32 60
 
Amyloid Disease 9


Classifications:



External Ids:

Disease Ontology9 DOID:9120
ICD9CM27 277.30, 277.3
NCIt38 C2868
MeSH33 D000686
ICD1025 E85

Related Diseases for Amyloidosis

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Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Secondary Amyloidosis

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

(show top 50)    (show all 500)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary amyloidosis31.6TTR, APOA1, GSN
2amyloidosis, hereditary, transthyretin-related31.5TTR, APOA1, GSN
3secondary amyloidosis31.4B2M, TTR, APOA1, SAA1
4amyloidosis, finnish type31.3GSN, TTR
5amyloidosis, familial visceral31.2APOA1, LYZ, FGA
6nephrotic syndrome31.0B2M, APOA1, FGA
7cerebral amyloid angiopathy30.8CST3, APP, TTR
8polyneuropathy30.8GSN, APOA2, TTR
9familial mediterranean fever, ar30.5SAA1, GSN
10rheumatoid arthritis30.5B2M, APOA1, SAA1, CST3, FPR2
11amyloid neuropathy30.4TTR, APOA1, GSN
12kidney disease30.2APOA1, LYZ, CST3
13hypoalphalipoproteinemia30.0APOA2, APOA1
14alzheimer disease30.0TTR, APP, CST3, GSN, FPR2
15leukemia29.9B2M, TTR, OSMR, LYZ, GSN, FPR1
16proteinuria29.9B2M, TTR, APOA1, APOA2, CST3, FGA
17deficiency anemia29.8B2M, TTR, SAA1
18chronic kidney failure29.4B2M, TTR, APOA1, CST3, FGA
19atherosclerosis29.2APOA1, APOA2, SAA1, CST3, FGA
20myocardial infarction29.0APOA1, APOA2, SAA1, CST3, FGA
21al amyloidosis11.1
22cerebritis10.7
23primary cutaneous amyloidosis10.7
24myeloma10.7
25macular amyloidosis10.7
26arthritis10.7
27cerebral hemorrhage10.6
28multiple myeloma10.6
29familial amyloidosis, finnish type10.6
30factor x deficiency10.6
31senile systemic amyloidosis10.6
32hepatitis10.5
33eye disease10.5LYZ
34macroglossia10.5
35neuropathy10.5
36amyloidosis aa10.4
37light chain deposition disease10.4
38castleman's disease10.4
39glomerulonephritis10.4
40multiple endocrine neoplasia10.4
41coronary stenosis10.3FGA, APOA1
42cholestasis10.3
43corneal dystrophy10.3
44laryngitis10.3
45leptomeningeal amyloidosis10.3
46muckle-wells syndrome10.3
47amyloidosis beta2m10.3
48carpal tunnel syndrome, familial10.3TTR, B2M
49crohn's disease10.3
50lattice corneal dystrophy10.3

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to amyloidosis

Symptoms for Amyloidosis

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HPO human phenotypes related to Amyloidosis:

(show all 22)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 abnormality of the pinna hallmark (90%) HP:0000377
3 cutis laxa hallmark (90%) HP:0000973
4 corneal dystrophy hallmark (90%) HP:0001131
5 generalized hyperpigmentation hallmark (90%) HP:0007440
6 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
7 facial palsy hallmark (90%) HP:0010628
8 abnormality of immune system physiology hallmark (90%) HP:0010978
9 palpebral edema hallmark (90%) HP:0100540
10 glomerulopathy hallmark (90%) HP:0100820
11 renal insufficiency typical (50%) HP:0000083
12 nephrotic syndrome typical (50%) HP:0000100
13 abnormality of the cardiovascular system typical (50%) HP:0001626
14 morphological abnormality of the central nervous system typical (50%) HP:0002011
15 abnormality of the abdominal organs typical (50%) HP:0002012
16 abnormality of the ureter occasional (7.5%) HP:0000069
17 hyperkeratosis occasional (7.5%) HP:0000962
18 talipes occasional (7.5%) HP:0001883
19 hernia of the abdominal wall occasional (7.5%) HP:0004299
20 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
21 impaired pain sensation occasional (7.5%) HP:0007328
22 abnormal hair quantity occasional (7.5%) HP:0011362

Drugs & Therapeutics for Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Amyloidosis

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Amyloidosis

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Anatomical Context for Amyloidosis

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MalaCards organs/tissues related to Amyloidosis:

31
Heart, Liver, Kidney, Bone, Skin, Brain, Bone marrow, Colon, B cells, Thyroid, Lung, Breast, Testes, Spinal cord, Tongue, Endothelial, Eye, Small intestine, Salivary gland, Pancreatic islet, Spleen, Tonsil, T cells, Neutrophil, Lymph node, Prostate, Testis, Myeloid, Monocytes, Trachea, Pituitary

Animal Models for Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8FGA, FPR1, GSN, APOA1, B2M
2MP:00053977.8B2M, OSMR, APOA1, IL31RA, GSN, FPR1
3MP:00053877.6B2M, APOA1, APP, IL31RA, GSN, FPR1
4MP:00053766.1FGA, B2M, TTR, APOA1, APOA2, APP

Publications for Amyloidosis

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Articles related to Amyloidosis:

(show top 50)    (show all 2630)
idTitleAuthorsYear
1
High sensitivity cardiac troponin T in patients with immunoglobulin light chain amyloidosis. (24402772)
2014
2
Topical application of ankaferd hemostat in a patient with gastroduodenal amyloidosis complicated with gastrointestinal bleeding. (23751610)
2013
3
Microbiologically documented infections in patients undergoing high-dose melphalan and autologous stem cell transplantation for the treatment of light chain amyloidosis. (23279695)
2013
4
Chronic renal failure secondary to systemic amyloidosis associated with gastrointestinal stromal tumour. (23897208)
2013
5
Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up. (22673790)
2012
6
Intestinal amyloidosis with intractable diarrhea and intestinal pseudo-obstruction. (23018539)
2012
7
Tonsil amyloidosis revealing a WaldenstrAPm macroglobulinemia. (22197994)
2012
8
A new c.1845Aa89T of oncostatin M receptor-I^ mutation and slightly enhanced oncostatin M receptor-I^ expression in a Chinese family with primary localized cutaneous amyloidosis. (22062952)
2012
9
A case of psoriasis with secondary amyloidosis, associated symbrachydactyly of the hand and a transverse deficiency of the foot. (22953651)
2012
10
Interaction between periodontal disease and systemic secondary amyloidosis: from inflammation to amyloidosis. (21043797)
2011
11
An unusual presentation of macular amyloidosis. (22068763)
2011
12
Functional correlates of N-terminal natriuretic peptide type B (NT-proBNP) response to therapy in cardiac light chain (AL) amyloidosis. (21838447)
2011
13
Metabolic phenotype in an AL amyloidosis transgenic mouse model. (21838426)
2011
14
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
15
Hypopigmented macular amyloidosis with or without hyperpigmentation. (19508574)
2009
16
Lichen amyloidosis of the auricular concha: successful treatment with electrodesiccation. (19284460)
2009
17
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
18
Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition. A clinicopathologic study of twelve cases. (18596378)
2008
19
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. (17469185)
2007
20
Bortezomib in the treatment of AL amyloidosis: targeted therapy? (18024367)
2007
21
Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis. (17062384)
2006
22
The formation and role of beta-amyloid peptides in neurons upon amyloidosis]. (16808166)
2006
23
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. (16258946)
2006
24
Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. (15983293)
2005
25
Cytokeratin expression in lichen amyloidosus and macular amyloidosis. (15096140)
2004
26
Metachronous development of nonamyloidogenic [lambda] light chain deposition disease and IgG heavy chain amyloidosis in the same patient. (14576484)
2003
27
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
28
Diagnosis and treatment of Al amyloidosis. (16224395)
2003
29
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
30
Primary localized amyloidosis of the bladder: experience with dimethyl sulfoxide therapy. (12187212)
2002
31
Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. (11337357)
2001
32
Effect of hemodialysis membranes on beta 2-microglobulin amyloidosis. (11264777)
2001
33
A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis. (11407685)
2001
34
Primary localized amyloidosis of the ureter and bladder managed by ileal interposition. (10708151)
2000
35
Distribution pattern of matrix metalloproteinases 1, 2, 3, and 9, tissue inhibitors of matrix metalloproteinases 1 and 2, and alpha 2-macroglobulin in cases of generalized AA- and AL amyloidosis. (11147173)
2000
36
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
37
Poor recovery and short survival of infused factor X in a case of acquired factor X deficiency and amyloidosis. (10544941)
1999
38
Treatment of AL amyloidosis with 4'-lodo-4'-deoxydoxorubicin: an update. (10025983)
1999
39
Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis. (10389096)
1999
40
Local synthesis of amyloid fibril precursor in AL amyloidosis of the urinary tract. (9547006)
1998
41
Apolipoprotein E is present in primary localized cutaneous amyloidosis. (9740234)
1998
42
Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports. (9068139)
1997
43
Is Alzheimer's disease an apolipoprotein E amyloidosis? (7715296)
1995
44
Expression of serum amyloid A genes in mink during induction of inflammation and amyloidosis. (8268220)
1993
45
Primary localized amyloidosis of the renal pelvis coexisting with transitional cell carcinoma: a case report. (1632328)
1992
46
Amyloidosis of the vitreous body. Possibilities of diagnosis]. (1786932)
1991
47
Severe secondary amyloidosis in a dog with dermatomyositis. (2474585)
1989
48
Generalized amyloidosis secondary to xanthogranulomatous pyelonephritis. (3816863)
1986
49
Secondary amyloidosis due to Schistosoma mansoni infection. (1247859)
1976
50
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. (4182999)
1969

Variations for Amyloidosis

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Expression for genes affiliated with Amyloidosis

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Search GEO for disease gene expression data for Amyloidosis.

Pathways for genes affiliated with Amyloidosis

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Pathways related to Amyloidosis according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APP, FPR2
29.6CST3, APP
3
Show member pathways
Vitamin B12 Metabolism36
9.6SAA1, APOA1
4
Show member pathways
9.5APOA1, APP, FGA
59.5SAA1, APP
6
Show member pathways
9.4APOA2, APOA1
79.4APOA1, APOA2
8
Show member pathways
9.1APP, SAA1, FPR2
9
Show member pathways
9.1APOA2, APOA1, TTR
10
Show member pathways
8.7FPR1, FPR2, SAA1, APP
11
Show member pathways
7.2FGA, B2M, TTR, APOA1, APP, SAA1
12
Show member pathways
7.1TTR, APOA1, APOA2, APP, SAA1, FPR2
136.4B2M, TTR, APOA1, APOA2, APP, SAA1

Compounds for genes affiliated with Amyloidosis

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Compounds related to Amyloidosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1t-boc-flflf2810.1FPR2, FPR1
2fmet-ile-val-thr-leu-phe2810.1FPR2, FPR1
3fmet-leu-phe2810.1FPR2, FPR1
4annexin i-(2-26)2810.0FPR1, FPR2
5fmet-met-tyr-ala-leu-phe2810.0FPR1, FPR2
6cyclosporin h43 2811.0FPR1, FPR2
7mmk 15910.0FPR2, FPR1
8boc-mlf5910.0FPR2, FPR1
9wkymvm59 2810.9FPR2, FPR1
10wrw4599.9FPR2, FPR1
11ginkgo439.9APP, TTR
12potassium permanganate439.9B2M, TTR
1325-hydroxyvitamin d439.8APOA1, TTR, B2M
1451-cr-edta439.7CST3, B2M
15an 69439.6FGA, B2M
16thioflavin t439.6B2M, TTR, APP, GSN
17polysulfone439.6FGA, CST3, B2M
18kininogen439.5APOA1, APP, CST3
19mspi439.5TTR, APOA1, APOA2
20latex439.4FGA, GSN, CST3
21cellulose acetate439.4B2M, TTR, CST3, FGA
22iohexol439.4B2M, APOA1, CST3, FGA
23uric acid43 2410.3B2M, TTR, APOA1, CST3
24aspirin43 49 28 2412.3TTR, APOA1, APP, FPR2, FGA
25captopril43 59 49 28 1213.3CST3, APP, APOA1, B2M
26endotoxin439.3SAA1, GSN, FPR1, FGA
27folate439.2CST3, APP, TTR, B2M
28valine439.1SAA1, APP, TTR, B2M
29testosterone43 59 24 1212.1B2M, TTR, APOA1, APP, GSN
30pge2439.0FGA, FPR1, FPR2, APOA1, B2M
31lactate439.0B2M, TTR, APOA1, CST3, FGA
32vitamin a43 24 1211.0B2M, TTR, APOA1, APP, CST3
33vitamin b12439.0B2M, TTR, APOA1, CST3, FPR1
34cyclosporin a43 28 5910.9B2M, TTR, APP, CST3, FPR1
35aspartate438.8B2M, TTR, APOA1, APP, CST3, GSN
36methionine438.8GSN, CST3, APOA2, TTR
37creatinine438.7B2M, TTR, APOA1, APP, CST3, FGA
38heparin43 28 24 1211.7APOA2, APP, GSN, FPR1, FGA
39leucine438.5TTR, APOA2, CST3, GSN, FPR1
40glutamine438.5B2M, TTR, APOA2, APP, CST3
41dexamethasone43 49 28 1211.1TTR, APOA1, APP, SAA1, CST3, FPR2
42retinoic acid43 249.1B2M, TTR, APOA1, APOA2, APP, GSN
43arginine437.9TTR, APOA2, APP, SAA1, CST3
44alanine437.8B2M, TTR, APOA1, APP, SAA1, CST3
45glucose437.7B2M, TTR, APOA1, APOA2, SAA1, CST3
46fibrinogen437.5FGA, TTR, APOA1, APOA2, SAA1, CST3
47cholesterol43 28 24 1210.3B2M, TTR, APOA1, APOA2, APP, SAA1
48calcium43 49 24 1210.2B2M, SAA1, CST3, GSN, FPR2, FPR1
49lipid437.0APOA1, APOA2, APP, SAA1, CST3, GSN
50serine436.9B2M, TTR, APOA1, APOA2, APP, CST3

GO Terms for genes affiliated with Amyloidosis

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

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:00716829.6SAA1, APOA1
2spherical high-density lipoprotein particleGO:00343669.4APOA2, APOA1
3very-low-density lipoprotein particleGO:00343619.3APOA1, APOA2
4blood microparticleGO:00725629.0APOA1, APOA2, GSN, FGA
5high-density lipoprotein particleGO:00343648.9SAA1, APOA2, APOA1
6endoplasmic reticulum lumenGO:00057888.6APOA2, APOA1, B2M
7extracellular spaceGO:00056158.5B2M, TTR, APOA1, LYZ, CST3, FGA
8plasma membraneGO:00058867.8APOA1, APP, IL31RA, FPR2, FPR1, FGA
9extracellular vesicular exosomeGO:00700626.8B2M, APOA1, APOA2, APP, SAA1, LYZ
10extracellular regionGO:00055766.6FGA, B2M, TTR, APOA1, APOA2, APP

Biological processes related to Amyloidosis according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:00025769.8FGA, APP, APOA1
2negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.7APOA2, APOA1
3negative regulation of lipase activityGO:00601929.7APOA2, APOA1
4regulation of intestinal cholesterol absorptionGO:00303009.7APOA1, APOA2
5high-density lipoprotein particle assemblyGO:00343809.7APOA1, APOA2
6protein oxidationGO:00181589.7APOA1, APOA2
7negative regulation of cytokine secretion involved in immune responseGO:00027409.6APOA1, APOA2
8high-density lipoprotein particle clearanceGO:00343849.6APOA1, APOA2
9peptidyl-methionine modificationGO:00182069.6APOA1, APOA2
10positive regulation of cholesterol esterificationGO:00108739.6APOA1, APOA2
11phospholipid effluxGO:00337009.5APOA2, APOA1
12high-density lipoprotein particle remodelingGO:00343759.5APOA1, APOA2
13retina homeostasisGO:00018959.5LYZ, B2M
14reverse cholesterol transportGO:00436919.4APOA2, APOA1
15retinoid metabolic processGO:00015239.4TTR, APOA1, APOA2
16cholesterol effluxGO:00333449.4APOA2, APOA1
17lipoprotein metabolic processGO:00421579.4APOA2, APOA1
18cholesterol metabolic processGO:00082039.3APP, APOA2, APOA1
19phototransduction, visible lightGO:00076039.3APOA2, APOA1, TTR
20phosphatidylcholine biosynthetic processGO:00066569.3APOA1, APOA2
21platelet activationGO:00301689.3APOA1, APP, SAA1, FGA

Molecular functions related to Amyloidosis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1N-formyl peptide receptor activityGO:00049829.8FPR2, FPR1
2high-density lipoprotein particle receptor bindingGO:00706539.6APOA1, APOA2
3apolipoprotein receptor bindingGO:00341909.6APOA1, APOA2
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.5APOA2, APOA1
5lipase inhibitor activityGO:00551029.5APOA2, APOA1
6high-density lipoprotein particle bindingGO:00080359.5APOA2, APOA1
7cholesterol transporter activityGO:00171279.4APOA2, APOA1
8cholesterol bindingGO:00154859.4APOA2, APOA1
9beta-amyloid bindingGO:00015409.4CST3, APOA1
10identical protein bindingGO:00428029.1LYZ, APP, APOA1, TTR, B2M
11protein bindingGO:00055156.7B2M, TTR, APOA1, APOA2, APP, CST3

Products for genes affiliated with Amyloidosis

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Sources for Amyloidosis

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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
42NINDS
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