MCID: ALM001
MIFTS: 61

Al Amyloidosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Immune diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases categories
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Summaries for Al Amyloidosis

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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 based summary: Al Amyloidosis, also known as primary systemic amyloidosis, is related to amyloidosis and macroglossia. 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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Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS, 25ICD10
See all sources

Al Amyloidosis, Aliases & Descriptions:

Name: Al Amyloidosis 42
Primary Systemic Amyloidosis 42 62
Primary Amyloidosis 42 62
Immunoglobulin Deposition Disease 62
Primary Systemic Al Amyloidosis 42
Amyloidosis Primary Systemic 42
 
Light Chain Amyloidosis 42
Primary Al Amyloidosis 42
Systemic Al Amyloidsis 42
Amyloidosis Primary 44
Amyloidosis Al 42


Classifications:



External Ids:

ICD1025 E85, E85.9

Related Diseases for Al Amyloidosis

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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 223)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.3CD79A, NPPB, CST3, CLU, TTR, F10
2macroglossia31.0B2M
3poems syndrome30.8CD79A
4macroglobulinemia30.6CD79A, B2M
5hepatitis30.6CD40LG, TTR, F10
6nephrotic syndrome30.5CD79A, CLU, SERPINC1, B2M
7polyneuropathy30.4CD40LG, CD79A, TTR
8amyloidosis, secondary30.4B2M, TTR
9antithrombin iii deficiency30.4SERPINC1, F10
10chronic lymphocytic leukemia30.4CD40LG, MS4A1, B2M
11myeloma30.3B2M, IL3, CST3, CSF3, CD79A, CD40LG
12glomerulonephritis30.3B2M, CLU, CD79A, CD40LG
13hypertension30.3CD79A, NPPB, CST3, ADM
14arthritis30.2CTSK, CLU, F10, B2M
15hodgkin's lymphoma30.2MS4A1, IL3, CSF3
16nephritis30.1B2M, CD79A, CD40LG
17amyloid tumor30.1B2M, TTR, CST3
18thromboembolism29.9VWF, F10, SERPINC1
19acute lymphoblastic leukemia29.8CSF3, IL3, SERPINC1
20rheumatoid arthritis29.6B2M, F10, CLU, CST3, CD79A, CD40LG
21proteinuria29.5B2M, TTR, CLU, ADM, CST3, CD79A
22leukemia29.2B2M, F10, TTR, IL3, CSF3, CD79A
23deficiency anemia28.8VWF, B2M, TTR, ADM, IL3, CSF3
24multiple myeloma10.7
25cryptosporidiosis10.6CD79A
26q fever10.5CD79A
27syphilis10.5CD79A
28giant cell tumor10.5CTSK
29primary cutaneous amyloidosis10.5
30hemorrhagic fever10.5CD40LG
31hematopoietic stem cell transplantation10.5
32dysfibrinogenemia10.5SERPINC1
33hyperthyroxinemia10.4TTR
34idiopathic edema10.4ADM, NPPB
35factor x deficiency10.4
36chronic pyelonephritis10.4B2M
37congenital toxoplasmosis10.4CD79A, CD40LG
38immunoglobulin g deficiency10.4CD79A, CD40LG
39lipoid nephrosis10.4ADM, CD79A
40prion disease10.4CLU, CST3
41selective iga deficiency disease10.4CD79A, CD40LG
42scrapie10.4CLU, CST3
43immunodeficiency, centromere instability and facial anomalies syndrome10.4CD79A, CD40LG
44immunoglobulin alpha deficiency10.4CD79A, CD40LG
45immunodeficiency with hyper igm type 110.4CD79A, CD40LG
46macroglobulinemia, waldenstrom, somatic10.4MS4A1, CD40LG
47primary pulmonary hypertension10.4ADM, NPPB
48purpura10.4SERPINC1, CD79A
49cryoglobulinemia10.4CD79A, CD40LG
50bruton-type agammaglobulinemia10.4CD79A, CD40LG

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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Drug clinical trials:

Search ClinicalTrials for Al Amyloidosis

Search NIH Clinical Center for Al Amyloidosis

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:

32
Liver, Heart, Kidney, Spleen, Smooth muscle, Skin, Tongue, Bone, Bone marrow, B cells, Colon, Eye, Brain, Breast, Testes, Endothelial, Lymph node, Small intestine, Lung, Prostate, Testis, Tonsil, Trachea

Animal Models for Al Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Al Amyloidosis:

36
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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Articles related to Al Amyloidosis:

(show top 50)    (show all 447)
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
Histological regression of amyloid in AL amyloidosis is exclusively seen after normalization of serum free light chain. (19644141)
2009
20
Treatment of patients with advanced cardiac AL amyloidosis with oral melphalan, dexamethasone, and thalidomide. (18779964)
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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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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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 Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Al Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 217)
idCompoundScoreTop Affiliating Genes
1silicone449.3CD40LG, SERPINC1, F10, CD79A
2fluorescein44 1110.1ADM, CD40LG, SERPINC1, F10
3captopril44 61 50 28 1113.1CD79A, NPPB, ADM, B2M, CST3
4polyethylene glycol449.0SERPINC1, CD40LG, F10, CST3, CD79A
5cellulose acetate448.9B2M, TTR, CST3, CD79A
6mesna448.9B2M, CSF3, IL3
7ppack448.8VWF, F10, SERPINC1, CD40LG
8gamma globulin448.7CD40LG, VWF, CD79A, B2M
9abciximab44 119.7SERPINC1, F10, VWF, CD40LG
10tirofiban44 119.6NPPB, F10, SERPINC1, CD40LG, VWF
11clopidogrel44 50 24 1111.6SERPINC1, F10, VWF, CD40LG
12neopterin448.6B2M, TTR, IL3, CD79A, CD40LG
13aprotinin44 119.5NPPB, CTSK, F10, VWF, SERPINC1, CST3
14hirudin448.4F10, SERPINC1, CD40LG, VWF
15biotin44 24 1110.3VWF, B2M, F10, CD79A, CD40LG
16vitamin d448.2IL3, TTR, CD79A, NPPB, B2M, CLU
17norepinephrine44 24 1110.1TTR, ADM, NPPB, CD79A, VWF, CD40LG
18histamine44 28 2410.0CD40LG, CD79A, VWF, NPPB, IL3, ADM
19acetylcholine44 50 28 24 1112.0VWF, F10, IL3, ADM, CD40LG, NPPB
20rituximab44 50 1110.0MS4A1, B2M, VWF, CD79A, CD40LG, CSF3
21vitamin b12448.0CST3, VWF, TTR, B2M, CD79A, CD40LG
22homocysteine44 249.0ADM, TTR, CST3, NPPB, CLU, SERPINC1
23doxorubicin44 50 119.9CD40LG, IL3, B2M, NPPB, CSF3, CLU
24cisplatin44 50 61 1110.9B2M, F10, IL3, CSF3, CD40LG, CST3
25cyclophosphamide44 50 119.9VWF, B2M, IL3, CSF3, NPPB, MS4A1
26n acetylcysteine447.9CD40LG, VWF, SERPINC1, CLU, IL3, CST3
27thyroxine44 248.9NPPB, CD79A, VWF, CD40LG, B2M, TTR
28polysaccharide447.8CLU, IL3, CST3, B2M, CD40LG, F10
29epinephrine44 24 119.8CD79A, CD40LG, VWF, TTR, ADM, CSF3
30aspirin44 50 28 2410.8CD79A, VWF, TTR, SERPINC1, NPPB, F10
31ascorbic acid44 248.6CD79A, IL3, SERPINC1, TTR, F10, CD40LG
32aspartate447.6VWF, B2M, F10, TTR, CST3, CD40LG
33adenylate447.5TTR, ADM, CD40LG, SERPINC1, F10, IL3
34heparin44 28 24 1110.5CD79A, NPPB, IL3, CLU, SERPINC1, F10
35hyaluronic acid44 248.5CD79A, CD40LG, TTR, B2M, VWF
36fibrinogen447.5TTR, VWF, F10, CLU, CD40LG, CST3
37paraffin447.4CD79A, TTR, VWF, CD40LG, MS4A1, ADM
38arginine447.2NPPB, CD79A, CST3, VWF, F10, TTR
39folate447.2TTR, B2M, SERPINC1, CLU, CST3, CD79A
40creatinine446.6TTR, CD40LG, CD79A, NPPB, CST3, IL3
41cyclosporin a44 28 618.5CD40LG, CD79A, NPPB, CSF3, CST3, IL3
42testosterone44 61 24 119.5B2M, SERPINC1, IL3, TTR, CD40LG, CD79A
43alanine446.5CST3, CD40LG, CD79A, VWF, IL3, ADM
44retinoic acid44 247.5VWF, B2M, TTR, ADM, IL3, CSF3
45lactate446.4VWF, B2M, F10, TTR, CLU, ADM
46dexamethasone44 50 28 119.4CSF3, CST3, IL3, ADM, CLU, SERPINC1
47vegf446.3CSF3, NPPB, CD40LG, CST3, ADM, CLU
48serine446.2CD40LG, NPPB, CST3, IL3, CLU, TTR
49estrogen446.2TTR, CD40LG, SERPINC1, CD79A, NPPB, IL3
50cysteine446.2CD40LG, CD79A, NPPB, CST3, IL3, B2M

GO Terms for genes affiliated with Al Amyloidosis

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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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Sources for Al Amyloidosis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet