Al Amyloidosis malady

Metabolic diseases category

Summaries for Al Amyloidosis

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Amyloidosis refers to a group of disorders in which protein fibers are deposited in tissues and organs, harming them.  al amyloidosis, also known as primary systemic amyloidosis, is the most common form of amyloidosis. it refers specifically to cases of amyloidosis where the deposits contain bits of immunoglobulin light chain. signs and symptoms depend on the organs affected by the deposits, which may include the tongue, intestines, skeletal and smooth muscles, joints, nerves, skin, ligaments, heart, liver, spleen, and kidneys. al amyloidosis is related to the plasma cell disorder multiple myeloma. treatment may include chemotherapy directed at the abnormal plasma cells or stem cell transplantation. last updated: 10/8/2012

MalaCards: Al Amyloidosis, also known as primary amyloidosis, is related to amyloidosis and myeloma. An important gene associated with Al Amyloidosis is CTSK (cathepsin K), and among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The compounds vitamin a and gamma globulin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are other and cardiovascular system.

Aliases & Classifications for Al Amyloidosis

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42NIH Rare Diseases, 44Novoseek, 60UMLS, 25ICD10
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Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases

Aliases & Descriptions:

al amyloidosis 42
primary amyloidosis 42 60
amyloidosis primary systemic 42
light chain amyloidosis 42
primary al amyloidosis 42
amyloidosis primary 44
amyloidosis al 42

External Ids:

ICD1025 E85, E85.9

Related Diseases for Al 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 Al Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 273)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.8TTR, CD79A, F10, B2M, NPPB, APP
2myeloma30.9CST3, CSF3, IL3, CD79A, CD14, CD40LG
3multiple myeloma30.9B2M, CSF3
4hepatitis30.5F10, CD40LG, TTR
5nephrotic syndrome30.5SERPINC1, CD79A, CD14, B2M
6neuropathy30.2TTR, CD79A
7glomerulonephritis30.2B2M, CD40LG, CD79A
9dilated cardiomyopathy30.1CALR, NPPB
10disseminated intravascular coagulation30.1SERPINC1, CD14, F10
11macroglobulinemia30.1CD79A, B2M
12arthritis30.1F10, CTSK, B2M
13proteinuria30.1CST3, B2M, CD40LG, CD79A, TTR, ADM
14rheumatoid arthritis30.1CTSK, CST3, CALR, B2M, F10, CD68
15respiratory failure29.9SERPINC1
16hepatitis c29.9CD40LG
18poems syndrome29.9CD79A
20peritonitis29.9B2M, CD14
21diarrhea29.9TTR, CD79A
22polyneuropathy29.9TTR, CD79A, CD40LG
23amyloid tumor29.9CST3, APP, B2M, TTR
24intermittent claudication29.8VWF
25adenocarcinoma29.8ADM, CALR
26bladder carcinoma29.8F10
27antithrombin iii deficiency29.8SERPINC1, F10
28hodgkin's lymphoma29.8MS4A1, IL3, CD68, CSF3
29hypertension29.8CST3, NPPB, CD79A, ADM
30deficiency anemia29.8CSF3, B2M, CD79A, IL3, VWF, TTR
31leukemia29.8CSF3, B2M, F10, CD40LG, CD14, CD79A
32factor x deficiency10.2
34amyloidosis, primary localized cutaneous, 110.2
35ischemic neuropathy10.1
36gamma heavy chain disease10.1
37protein-losing enteropathy10.1
39extramedullary plasmacytoma10.1
40ischemic optic neuropathy10.1
42chronic lymphocytic leukemia10.1
43heavy chain disease10.1
45thyroid cancer10.1
46intrahepatic cholestasis10.1
48hepatitis a10.1
49intestinal obstruction10.1
50liver disease10.1

Graphical network of the top 20 diseases related to Al Amyloidosis:

Diseases related to al amyloidosis

Clinical Features for Al Amyloidosis

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Drugs & Therapeutics for Al Amyloidosis

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

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Drug clinical trials:

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Genetic Tests for Al Amyloidosis

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Anatomical Context for Al Amyloidosis

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MalaCards organs/tissues related to Al Amyloidosis:

Skin, Liver, Tongue, Kidney, Spleen, Heart, Smooth muscle

Animal Models for Al Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Al Amyloidosis:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.5ADM, CD40LG, CTSK, APP
2MP:00053858.0CALR, CST3, NPPB, B2M, F10, CD40LG
3MP:00107686.6MAPKAPK5, F10, B2M, APP, CALR, CD40LG
4MP:00053846.5MAPKAPK5, B2M, CTSK, APP, CALR, CD40LG
5MP:00053766.4F10, B2M, CTSK, APP, CST3, CALR
6MP:00053976.3CSF3, CTSK, B2M, CD68, CD40LG, CD79A
7MP:00053875.6ADM, CSF3, APP, CTSK, B2M, CD68

Publications for Al Amyloidosis

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Genetic Variations for Al Amyloidosis

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Expression for genes affiliated with Al Amyloidosis

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

Search GEO for disease gene expression data for Al Amyloidosis.

Pathways for genes affiliated with Al Amyloidosis

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53Reactome, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Al Amyloidosis

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Al Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 201)
idCompoundScoreTop Affiliating Genes
1vitamin a44 11 2412.5CST3
2gamma globulin4410.5VWF
3norepinephrine44 11 2412.0ADM, APP, TTR
4estrogen4410.0TTR, CD79A, NPPB
5phosphatidylserine44 28 1111.8CD14, F10, TTR, CD79A
6serine449.8APP, CTSK, F10, B2M
7ppack449.7VWF, F10, CD40LG, SERPINC1
8silicone449.6SERPINC1, CD79A, CD40LG, F10
9aprotinin44 1110.6NPPB, CTSK, F10, VWF, SERPINC1
10tirofiban44 1110.6CD40LG, VWF, SERPINC1, NPPB, F10
11polysulfone449.5CD14, CST3, VWF, B2M
12captopril44 28 49 59 1113.5CST3, APP, B2M, CD79A, ADM
13abciximab44 1110.4CD40LG, SERPINC1, F10, VWF
14cellulose acetate449.4CST3, CD79A, B2M, TTR
15polyethylene glycol449.4CD40LG, CD79A, CST3, F10, SERPINC1
16creatinine449.4CD14, NPPB, APP, CST3, CD79A, TTR
17heparin44 28 11 2412.3CD79A, F10, CD14, CD40LG, APP, CALR
18chloroquine44 2 49 28 1113.2CTSK, SERPINC1, CD79A, APP, B2M
19homocysteine44 2410.2ADM, SERPINC1, TTR, VWF, CD14, NPPB
20neopterin449.2TTR, IL3, CD79A, CD14, B2M, CD40LG
21vitamin b12449.2TTR, VWF, CD79A, CD40LG, B2M, CST3
22ascorbic acid44 2410.1IL3, CD79A, SERPINC1, TTR, VWF, F10
23dexamethasone44 49 28 1112.1CD40LG, CD14, CD79A, IL3, NPPB, APP
24clopidogrel49 44 11 2412.1F10, CD40LG, VWF, SERPINC1
25sodium nitroprusside449.0B2M, VWF, ADM, APP, NPPB
26thyroxine44 2410.0TTR, CD79A, CD40LG, VWF, NPPB, B2M
27vitamin d449.0CALR, TTR, IL3, CD79A, B2M, NPPB
28n acetylcysteine448.9IL3, CST3, CALR, CD79A, VWF, SERPINC1
29biotin44 11 2410.9VWF, CD79A, B2M, F10, CD40LG
30aspartate448.8CD40LG, F10, CD14, CTSK, APP, CST3
31fibrinogen448.8CD79A, VWF, CST3, TTR, SERPINC1, CD14
32histamine44 28 2410.7CALR, VWF, IL3, CD79A, CD40LG, F10
33polysaccharide448.7CALR, F10, CD40LG, CD79A, CD14, IL3
34aspirin44 49 28 2411.6TTR, VWF, CD79A, CD40LG, F10, NPPB
35acetylcholine44 49 28 11 2412.6NPPB, F10, CD40LG, CD79A, IL3, VWF
36folate448.6CD79A, TTR, SERPINC1, CST3, VWF, APP
37adenylate448.4VWF, SERPINC1, ADM, TTR, CD40LG, F10
38rituximab44 49 1110.4MS4A1, VWF, CD79A, B2M, CD40LG, CSF3
39cyclophosphamide44 49 1110.3MS4A1, CSF3, B2M, IL3, VWF, NPPB
40paraffin448.1TTR, VWF, B2M, CD79A, CD14, CD40LG
41epinephrine44 11 2410.1CSF3, ADM, APP, NPPB, CD40LG, CD79A
42testosterone44 59 11 2410.9SERPINC1, ADM, IL3, CD40LG, B2M, NPPB
43lactate447.9CD40LG, CD14, CD79A, IL3, VWF, TTR
44glutamine447.9APP, F10, CD14, IL3, VWF, LECT2
45arginine447.9ADM, SERPINC1, TTR, VWF, NPPB, CD79A
46alanine447.7TTR, B2M, VWF, IL3, CD79A, CD14
47cysteine447.3ADM, TTR, CALR, CST3, VWF, CD79A
48vegf447.2CD14, CST3, SERPINC1, ADM, CD79A, CD40LG
49retinoic acid44 248.2APP, TTR, B2M, VWF, CTSK, ADM
50cyclosporin a44 28 599.1ADM, TTR, VWF, IL3, CD79A, CD14

GO Terms for genes affiliated with Al Amyloidosis

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.6B2M, CD40LG, CD79A, VWF, MS4A1, CALR
2extracellular regionGO:0055766.9CTSK, NPPB, APP, CST3, CALR, B2M
3extracellular spaceGO:0056156.4ADM, CALR, CST3, CSF3, NPPB, CTSK

Biological processes related to Al Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell proliferationGO:0421009.9CD79A, CD40LG

Molecular functions related to Al Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.8ADM, TTR, NPPB
2protease bindingGO:0020209.6SERPINC1, VWF, CST3
3identical protein bindingGO:0428028.3APP, B2M, VWF, LECT2, TTR

Products for genes affiliated with Al Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Al Amyloidosis

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet