MCID: ALM001
MIFTS: 59

Al Amyloidosis malady

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

Summaries for Al Amyloidosis

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 MS4A1 (membrane-spanning 4-domains, subfamily A, member 1), and among its related pathways are Hematopoietic cell lineage and Lymphocyte Signaling. The compounds silicone and fluorescein have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are other and renal/urinary system.

Aliases & Classifications for Al Amyloidosis

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44NIH Rare Diseases, 63UMLS, 46Novoseek, 26ICD10
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Classifications:



Aliases & Descriptions:

al amyloidosis 44
primary amyloidosis 44 63
primary systemic al amyloidosis 44
primary systemic amyloidosis 44
amyloidosis primary systemic 44
light chain amyloidosis 44
primary al amyloidosis 44
systemic al amyloidsis 44
amyloidosis primary 46
amyloidosis al 44


External Ids:

ICD1026 E85, E85.9

Related Diseases for Al Amyloidosis

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18GeneCards, 19GeneDecks
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Diseases in the Amyloidosis family:

al amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis

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

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.8CD79A, NPPB, CST3, CLU, TTR, F10
2myeloma30.8B2M, IL3, CST3, CSF3, CD79A, CD40LG
3hepatitis30.6CD40LG, TTR, F10
4nephrotic syndrome30.6CD79A, CLU, SERPINC1, B2M
5macroglossia30.5B2M
6glomerulonephritis30.3B2M, CLU, CD79A, CD40LG
7chronic lymphocytic leukemia30.3CD40LG, MS4A1, B2M
8macroglobulinemia30.3CD79A, B2M
9amyloidosis, secondary30.2B2M, TTR
10arthritis30.2CTSK, CLU, F10, B2M
11thromboembolism30.2VWF, F10, SERPINC1
12poems syndrome30.1CD79A
13antithrombin iii deficiency30.0SERPINC1, F10
14rheumatoid arthritis30.0B2M, F10, CLU, CST3, CD79A, CD40LG
15proteinuria30.0B2M, TTR, CLU, ADM, CST3, CD79A
16polyneuropathy30.0CD40LG, CD79A, TTR
17hypertension30.0CD79A, NPPB, CST3, ADM
18hodgkin's lymphoma30.0MS4A1, IL3, CSF3
19nephritis30.0B2M, CD79A, CD40LG
20amyloid tumor30.0B2M, TTR, CST3
21leukemia29.7B2M, F10, TTR, IL3, CSF3, CD79A
22deficiency anemia29.7VWF, B2M, TTR, ADM, IL3, CSF3
23multiple myeloma10.6
24primary cutaneous amyloidosis10.5
25hematopoietic stem cell transplantation10.5
26factor x deficiency10.3
27cholestasis10.3
28light chain deposition disease10.3
29constrictive pericarditis10.2
30pericarditis10.2
31neuropathy10.2
32amyloidosis, primary localized cutaneous, 110.2
33protein-losing enteropathy10.2
34duodenitis10.2
35extramedullary plasmacytoma10.2
36alopecia10.2
37anterior ischemic optic neuropathy10.2
38myopathy10.2
39thyroid cancer10.2
40thyroiditis10.2
41heavy chain deposition disease10.2
42cryptosporidiosis10.1CD79A
43q fever10.1CD79A
44syphilis10.1CD79A
45giant cell tumor10.1CTSK
46intrahepatic cholestasis10.1
47gastroduodenitis10.1
48dilated cardiomyopathy10.1
49disseminated intravascular coagulation10.1
50mediastinitis10.1

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



Diseases related to al amyloidosis

Symptoms for Al Amyloidosis

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Drugs & Therapeutics for Al Amyloidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Al Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Al Amyloidosis

Search NIH Clinical Center for Al Amyloidosis

Search CenterWatch for Al Amyloidosis

Genetic Tests for Al Amyloidosis

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Anatomical Context for Al Amyloidosis

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34MalaCards
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MalaCards organs/tissues related to Al Amyloidosis:

34
Liver, Heart, Kidney, Spleen, Skin, Smooth muscle, Tongue, Bone, Bone marrow, B cells, Colon, Eye, Endothelial, Brain, Breast, Testes, Testis, Prostate, Small intestine, Trachea, Lung, Lymph node, Tonsil

Animal Models for Al Amyloidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Al Amyloidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2CLU, ADM, CD40LG, CTSK
2MP:00053677.8SERPINC1, CLU, ADM, IL3, CSF3, CD79A
3MP:00036317.3B2M, SERPINC1, CLU, CST3, CD79A, CD40LG
4MP:00053847.2VWF, B2M, ADM, IL3, CD79A, CD40LG
5MP:00053856.8VWF, B2M, F10, SERPINC1, CLU, ADM
6MP:00053976.4ADM, SERPINC1, B2M, VWF, MS4A1, IL3
7MP:00053876.1CLU, SERPINC1, B2M, VWF, ADM, MS4A1
8MP:00053765.7CTSK, VWF, B2M, F10, TTR, SERPINC1

Publications for Al Amyloidosis

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53PubMed
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Articles related to Al Amyloidosis:

(show top 50)    (show all 426)
idTitleAuthorsYear
1
Clinical profile and treatment outcomes of immunoglobulin D associated AL amyloidosis. (23773011)
2013
2
A first report of endoscopic ultrasound for the diagnosis of pancreatic amyloid deposition in immunoglobulin light chain (AL) amyloidosis (primary amyloidosis). (23669481)
2013
3
Autologous stem cell transplant is an effective therapy for carefully selected patients with AL amyloidosis: experience of a single institution. (24266428)
2013
4
Impact of regional left ventricular function on outcome for patients with AL amyloidosis. (23520459)
2013
5
Sudden death possibly related to lenalidomide given for cardiac and muscle AL amyloidosis secondary to light chain deposition disease. (22504167)
2013
6
AL amyloidosis or multiple myeloma? - an important distinction. (24261595)
2013
7
Cancer-testis antigen expression and immunogenicity in AL amyloidosis. (22983433)
2012
8
A phase II study of risk-adapted intravenous melphalan in patients with AL amyloidosis. (22390735)
2012
9
An unusual presentation of systemic AL amyloidosis: bullae, milia and nail dystrophy. (22439768)
2012
10
Functional correlates of N-terminal natriuretic peptide type B (NT-proBNP) response to therapy in cardiac light chain (AL) amyloidosis. (21838447)
2011
11
Metabolic phenotype in an AL amyloidosis transgenic mouse model. (21838426)
2011
12
Macroglossia - not always AL amyloidosis. (21401321)
2011
13
Prognosis and risk assessment in AL amyloidosis--state of the art. (21838444)
2011
14
Bortezomib (Velcade) treatment of AL amyloidosis: Indiana University experience. (21838468)
2011
15
Human microvascular dysfunction and apoptotic injury induced by AL amyloidosis light chain proteins. (21963839)
2011
16
Consolidation with bortezomib and dexamethasone following risk-adapted melphalan and stem cell transplant in systemic AL amyloidosis. (21838462)
2011
17
Rotational mechanics of the left ventricle in AL amyloidosis. (21039810)
2010
18
AL amyloidosis in a young adult: remission with autologous stem cell transplantation. (21125195)
2010
19
Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. (20434879)
2010
20
Histological regression of amyloid in AL amyloidosis is exclusively seen after normalization of serum free light chain. (19644141)
2009
21
Therapeutic outcome of cyclic VAD (vincristine, doxorubicin and dexamethasone) therapy in primary systemic AL amyloidosis patients. (18758127)
2008
22
High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. (18172953)
2008
23
Bortezomib in the treatment of AL amyloidosis: targeted therapy? (18024367)
2007
24
Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. (16990593)
2007
25
An overview of high-dose melphalan and stem cell transplantation in the treatment of AL amyloidosis. (17968685)
2007
26
AL amyloidosis associated with B-cell lymphoproliferative disorders: frequency and treatment outcomes. (16795060)
2006
27
Sequential heart and autologous stem cell transplantation for systemic AL amyloidosis. (16210334)
2006
28
Systemic AL amyloidosis associated with multiple myeloma in a horse. (15657277)
2005
29
Nodular immunocyte-derived (AL) amyloidosis in the trachea of a dog. (15112779)
2004
30
Diagnosis and treatment of Al amyloidosis. (16224395)
2003
31
Incidence and outcome of acute renal failure complicating autologous stem cell transplantation for AL amyloidosis. (12675865)
2003
32
Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis. (12719281)
2003
33
Pulmonary AL amyloidosis in a patient with primary SjAPgren syndrome. (24383839)
2002
34
A long-survival case of systemic AL amyloidosis with nephrotic syndrome. (12487190)
2002
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
Severe respiratory depression after dimethylsulphoxide-containing autologous stem cell infusion in a patient with AL amyloidosis. (10871736)
2000
37
Treatment of AL amyloidosis with 4'-lodo-4'-deoxydoxorubicin: an update. (10025983)
1999
38
What is the role of giant cells in AL-amyloidosis? (10439114)
1999
39
Autologous stem cell transplantation for AL amyloidosis: a standard therapy? (10602412)
1999
40
Rapid reversal of nephrotic syndrome due to primary systemic AL amyloidosis after VAD and subsequent high-dose chemotherapy with autologous stem cell support. (10338056)
1999
41
Local synthesis of amyloid fibril precursor in AL amyloidosis of the urinary tract. (9547006)
1998
42
Cardiac AL-amyloidosis in multiple myeloma. (9549971)
1998
43
AL amyloidosis combined with acquired factor V deficiency. (9518420)
1998
44
1H MRS of liver and brain in a patient with AL amyloidosis. (9322218)
1997
45
Visceral organ involvement and extracellular matrix changes in beta 2-microglobulin amyloidosis--a comparative study with systemic AA and AL amyloidosis. (9230913)
1997
46
Diagnostic approach to and follow-up of difficult cases of AL amyloidosis. (8566880)
1995
47
Cardiac transplantation for AL amyloidosis. (7987109)
1994
48
AA amyloidosis and AL amyloidosis. (8204969)
1993
49
Primary (AL) amyloidosis as a cause of breast masses. (6507469)
1984
50
Soft-tissue uptake of 99mTc-diphosphonate in systemic AL amyloidosis. (6441712)
1984

Variations for Al Amyloidosis

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Expression for genes affiliated with Al Amyloidosis

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 5Cell Signaling Technology, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 55R&D Systems
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Pathways related to Al Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CSF3, IL3, MS4A1
29.1B2M, IL3, CD79A
3
Show member pathways
9.1CD40LG, IL3, B2M
4
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
8.9VWF, F10, SERPINC1
5
Show member pathways
8.9SERPINC1, F10, VWF
6
Show member pathways
8.7B2M, TTR, CST3, CD40LG
7
Show member pathways
8.5CLU, SERPINC1, F10, VWF

Compounds for genes affiliated with Al Amyloidosis

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR, 25HMDB
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Compounds related to Al Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 217)
idCompoundScoreTop Affiliating Genes
1silicone469.3CD40LG, SERPINC1, F10, CD79A
2fluorescein46 1210.1ADM, CD40LG, SERPINC1, F10
3captopril46 62 52 30 1213.1CD79A, NPPB, ADM, B2M, CST3
4polyethylene glycol469.0SERPINC1, CD40LG, F10, CST3, CD79A
5cellulose acetate468.9B2M, TTR, CST3, CD79A
6mesna468.9B2M, CSF3, IL3
7ppack468.8VWF, F10, SERPINC1, CD40LG
8gamma globulin468.7CD40LG, VWF, CD79A, B2M
9abciximab46 129.7SERPINC1, F10, VWF, CD40LG
10tirofiban46 129.6NPPB, F10, SERPINC1, CD40LG, VWF
11clopidogrel46 52 25 1211.6SERPINC1, F10, VWF, CD40LG
12neopterin468.6B2M, TTR, IL3, CD79A, CD40LG
13aprotinin46 129.5NPPB, CTSK, F10, VWF, SERPINC1, CST3
14hirudin468.4F10, SERPINC1, CD40LG, VWF
15biotin46 25 1210.3VWF, B2M, F10, CD79A, CD40LG
16vitamin d468.2IL3, TTR, CD79A, NPPB, B2M, CLU
17norepinephrine46 25 1210.1TTR, ADM, NPPB, CD79A, VWF, CD40LG
18histamine46 30 2510.0CD40LG, CD79A, VWF, NPPB, IL3, ADM
19acetylcholine46 52 30 25 1212.0VWF, F10, IL3, ADM, CD40LG, NPPB
20rituximab46 52 1210.0MS4A1, B2M, VWF, CD79A, CD40LG, CSF3
21vitamin b12468.0CST3, VWF, TTR, B2M, CD79A, CD40LG
22homocysteine46 259.0ADM, TTR, CST3, NPPB, CLU, SERPINC1
23doxorubicin46 52 129.9CD40LG, IL3, B2M, NPPB, CSF3, CLU
24cisplatin46 52 62 1210.9B2M, F10, IL3, CSF3, CD40LG, CST3
25cyclophosphamide46 52 129.9VWF, B2M, IL3, CSF3, NPPB, MS4A1
26n acetylcysteine467.9CD40LG, VWF, SERPINC1, CLU, IL3, CST3
27thyroxine46 258.9NPPB, CD79A, VWF, CD40LG, B2M, TTR
28polysaccharide467.8CLU, IL3, CST3, B2M, CD40LG, F10
29epinephrine46 25 129.8CD79A, CD40LG, VWF, TTR, ADM, CSF3
30aspirin46 52 30 2510.8CD79A, VWF, TTR, SERPINC1, NPPB, F10
31ascorbic acid46 258.6CD79A, IL3, SERPINC1, TTR, F10, CD40LG
32aspartate467.6VWF, B2M, F10, TTR, CST3, CD40LG
33adenylate467.5TTR, ADM, CD40LG, SERPINC1, F10, IL3
34heparin46 30 25 1210.5CD79A, NPPB, IL3, CLU, SERPINC1, F10
35hyaluronic acid46 258.5CD79A, CD40LG, TTR, B2M, VWF
36fibrinogen467.5TTR, VWF, F10, CLU, CD40LG, CST3
37paraffin467.4CD79A, TTR, VWF, CD40LG, MS4A1, ADM
38arginine467.2NPPB, CD79A, CST3, VWF, F10, TTR
39folate467.2TTR, B2M, SERPINC1, CLU, CST3, CD79A
40creatinine466.6TTR, CD40LG, CD79A, NPPB, CST3, IL3
41cyclosporin a46 30 628.5CD40LG, CD79A, NPPB, CSF3, CST3, IL3
42testosterone46 62 25 129.5B2M, SERPINC1, IL3, TTR, CD40LG, CD79A
43alanine466.5CST3, CD40LG, CD79A, VWF, IL3, ADM
44retinoic acid46 257.5VWF, B2M, TTR, ADM, IL3, CSF3
45lactate466.4VWF, B2M, F10, TTR, CLU, ADM
46dexamethasone46 52 30 129.4CSF3, CST3, IL3, ADM, CLU, SERPINC1
47vegf466.3CSF3, NPPB, CD40LG, CST3, ADM, CLU
48serine466.2CD40LG, NPPB, CST3, IL3, CLU, TTR
49estrogen466.2TTR, CD40LG, SERPINC1, CD79A, NPPB, IL3
50cysteine466.2CD40LG, CD79A, NPPB, CST3, IL3, B2M

GO Terms for genes affiliated with Al Amyloidosis

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17Gene Ontology
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Cellular components related to Al Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.1B2M, MS4A1, CD79A, CD40LG, VWF
2extracellular spaceGO:0056155.9CTSK, B2M, TTR, SERPINC1, CLU, ADM
3extracellular regionGO:0055765.6TTR, F10, B2M, VWF, SERPINC1, CLU

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

idNameGO IDScoreTop Affiliating Genes
1B cell proliferationGO:0421009.6CD40LG, CD79A, MS4A1
2blood coagulation, intrinsic pathwayGO:0075979.0F10, VWF
3platelet activationGO:0301689.0CD40LG, CLU, VWF
4blood coagulationGO:0075968.4VWF, F10, SERPINC1, CLU

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.2CD40LG, CSF3, IL3
2hormone activityGO:0051799.1NPPB, ADM, TTR
3protease bindingGO:0020208.8CST3, SERPINC1, VWF

Products for genes affiliated with Al Amyloidosis

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Al Amyloidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet