MCID: ALM001
MIFTS: 56

Al Amyloidosis malady

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

Aliases & Classifications for Al Amyloidosis

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 44Novoseek, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Al Amyloidosis:

Name: Al Amyloidosis 42 48
Primary Systemic Amyloidosis 42 48 61
Primary Amyloidosis 42 48 61
Localized Immunoglobulinic Amyloidosis 42 48
Primary Localized Amyloidosis 42 48
Localized Al Amyloidosis 42 48
Systemic Immunoglobulinic Amyloidosis 48
Immunoglobulin Deposition Disease 61
Primary Systemic Al Amyloidosis 42
 
Immunoglobulinic Amyloidosis 48
Amyloidosis Primary Systemic 42
Systemic Al Amyloidosis 48
Light Chain Amyloidosis 42
Light-Chain Amyloidosis 48
Primary Al Amyloidosis 42
Systemic Al Amyloidsis 42
Amyloidosis Primary 44
Amyloidosis Al 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
primary amyloidosis:
Prevalence: 1-5/10000 (Europe); Age of onset: Adult


External Ids:

Orphanet48 314701, 314709, 85443
ICD10 via Orphanet26 E85.0, E85.1, E85.2 E85.3, E85.4, E85.8, more
UMLS via Orphanet62 C0268381
MESH via Orphanet34 C531616
ICD1025 E85.9

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 FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Hematopoietic cell lineage and Lymphocyte Signaling. The compounds silicone and captopril have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are other and reproductive system.

Related Diseases for Al Amyloidosis

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Diseases in the Amyloidosis family:

al amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Secondary Amyloidosis

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

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2B2M, TTR, APOA1, CLU, CST3, CD79A
2macroglossia30.9B2M
3poems syndrome30.8CD79A
4multiple myeloma30.8FGFR3, B2M, CSF3
5macroglobulinemia30.8CD79A, B2M
6hepatitis30.6TTR, F10, CD40LG
7polyneuropathy30.6CD40LG, TTR, CD79A
8chronic lymphocytic leukemia30.5B2M, CD40LG, MS4A1
9glomerulonephritis30.5B2M, CLU, CD79A, CD40LG
10nephrotic syndrome30.4B2M, CLU, SERPINC1, APOA1, CD79A
11amyloidosis, hereditary, transthyretin-related30.4TTR, APOA1
12hereditary amyloidosis30.4TTR, APOA1
13arthritis30.4CLU, B2M, CTSK, F10
14nephritis30.3CD79A, B2M, CD40LG
15atrial fibrillation30.3NPPB, VWF, F10
16liver disease30.3SERPINC1, TTR, CD79A
17secondary amyloidosis30.1TTR, APOA1, B2M
18myeloma30.0CD79A, FGFR3, CD40LG, B2M, IL3, CST3
19rheumatoid arthritis29.5CST3, APOA1, F10, B2M, CLU, CTSK
20proteinuria29.5CD40LG, CD79A, ADM, CLU, APOA1, TTR
21deficiency anemia29.2ADM, VWF, B2M, TTR, CSF3, CD79A
22leukemia29.1FGFR3, CD79A, CSF3, IL3, TTR, F10
23cryptosporidiosis10.6CD79A
24q fever10.5CD79A
25syphilis10.5CD79A
26peripheral vascular disease10.5CD79A
27hemorrhagic fever10.5CD40LG
28primary cutaneous amyloidosis10.5
29hematopoietic stem cell transplantation10.5
30dysfibrinogenemia10.5SERPINC1
31hyperthyroxinemia10.5TTR
32chronic pyelonephritis10.5B2M
33congenital toxoplasmosis10.4CD40LG, CD79A
34idiopathic edema10.4ADM, NPPB
35immunoglobulin g deficiency10.4CD40LG, CD79A
36selective iga deficiency disease10.4CD79A, CD40LG
37immunodeficiency, centromere instability and facial anomalies syndrome10.4CD79A, CD40LG
38purpura10.4CD79A, SERPINC1
39immunoglobulin alpha deficiency10.4CD40LG, CD79A
40immunodeficiency, x-linked, with hyper-igm10.4CD79A, CD40LG
41factor x deficiency10.4
42scrapie10.4CLU, CST3
43cryoglobulinemia10.4CD40LG, CD79A
44waldenstrom macroglobulinemia10.4CD40LG, MS4A1
45prion disease10.4CLU, CST3
46lipoid nephrosis10.4ADM, CD79A
47familial restrictive cardiomyopathy10.4NPPB, TTR
48pulmonary hypertension10.4ADM, NPPB
49rubella10.4CD40LG, CD79A
50pepck 2 deficiency10.4SERPINC1, CLU

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:

31
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, T cells, Trachea

Animal Models for Al Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Al Amyloidosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3CLU, ADM, CD40LG, CTSK
2MP:00053898.2CD40LG, FGFR3, F10, SERPINC1, ADM, B2M
3MP:00107718.0FGFR3, B2M, APOA1, ADM, CSF3, CD40LG
4MP:00053677.7FGFR3, CD40LG, CSF3, IL3, ADM, SERPINC1
5MP:00053847.1ADM, FGFR3, CTSK, CD40LG, CD79A, IL3
6MP:00036317.0VWF, B2M, SERPINC1, CST3, CD79A, CD40LG
7MP:00053856.7B2M, SERPINC1, F10, CLU, ADM, CST3
8MP:00053976.0CTSK, B2M, APOA1, SERPINC1, MS4A1, ADM
9MP:00053875.7B2M, SERPINC1, CLU, CSF3, ADM, MS4A1
10MP:00053765.3FGFR3, F10, APOA1, SERPINC1, CLU, ADM

Publications for Al Amyloidosis

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Articles related to Al Amyloidosis:

(show top 50)    (show all 466)
idTitleAuthorsYear
1
A study of implanted cardiac rhythm recorders in advanced cardiac AL amyloidosis. (25549725)
2014
2
High dose melphalan and autologous peripheral blood stem cell transplantation in AL amyloidosis. (25459183)
2014
3
Clinical profile and treatment outcomes of immunoglobulin D associated AL amyloidosis. (23773011)
2013
4
A first report of endoscopic ultrasound for the diagnosis of pancreatic amyloid deposition in immunoglobulin light chain (AL) amyloidosis (primary amyloidosis). (23669481)
2013
5
Autologous stem cell transplant is an effective therapy for carefully selected patients with AL amyloidosis: experience of a single institution. (24266428)
2013
6
Impact of regional left ventricular function on outcome for patients with AL amyloidosis. (23520459)
2013
7
Sudden death possibly related to lenalidomide given for cardiac and muscle AL amyloidosis secondary to light chain deposition disease. (22504167)
2013
8
AL amyloidosis or multiple myeloma? - an important distinction. (24261595)
2013
9
Cancer-testis antigen expression and immunogenicity in AL amyloidosis. (22983433)
2012
10
A phase II study of risk-adapted intravenous melphalan in patients with AL amyloidosis. (22390735)
2012
11
An unusual presentation of systemic AL amyloidosis: bullae, milia and nail dystrophy. (22439768)
2012
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
Prognosis and risk assessment in AL amyloidosis--state of the art. (21838444)
2011
15
Bortezomib (Velcade) treatment of AL amyloidosis: Indiana University experience. (21838468)
2011
16
Human microvascular dysfunction and apoptotic injury induced by AL amyloidosis light chain proteins. (21963839)
2011
17
Consolidation with bortezomib and dexamethasone following risk-adapted melphalan and stem cell transplant in systemic AL amyloidosis. (21838462)
2011
18
Rotational mechanics of the left ventricle in AL amyloidosis. (21039810)
2010
19
AL amyloidosis in a young adult: remission with autologous stem cell transplantation. (21125195)
2010
20
Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. (20434879)
2010
21
Histological regression of amyloid in AL amyloidosis is exclusively seen after normalization of serum free light chain. (19644141)
2009
22
Treatment of patients with advanced cardiac AL amyloidosis with oral melphalan, dexamethasone, and thalidomide. (18779964)
2009
23
Therapeutic outcome of cyclic VAD (vincristine, doxorubicin and dexamethasone) therapy in primary systemic AL amyloidosis patients. (18758127)
2008
24
High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. (18172953)
2008
25
Bortezomib in the treatment of AL amyloidosis: targeted therapy? (18024367)
2007
26
Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. (16990593)
2007
27
An overview of high-dose melphalan and stem cell transplantation in the treatment of AL amyloidosis. (17968685)
2007
28
AL amyloidosis associated with B-cell lymphoproliferative disorders: frequency and treatment outcomes. (16795060)
2006
29
Sequential heart and autologous stem cell transplantation for systemic AL amyloidosis. (16210334)
2006
30
Systemic AL amyloidosis associated with multiple myeloma in a horse. (15657277)
2005
31
Diagnosis and treatment of Al amyloidosis. (16224395)
2003
32
Incidence and outcome of acute renal failure complicating autologous stem cell transplantation for AL amyloidosis. (12675865)
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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Clinvar genetic disease variations for Al Amyloidosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
2FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
3FGFR3FGFR3, FGFR3/IGH FUSIONundetermined variantPathogenic

Expression for genes affiliated with Al Amyloidosis

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CSF3, IL3, MS4A1
29.1CD79A, IL3, B2M
3
Show member pathways
9.1VWF, APOA1, CLU
4
Show member pathways
8.9SERPINC1, F10, VWF
5
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.9SERPINC1, F10, VWF
6
Show member pathways
8.7B2M, CD79A, CD40LG, CTSK, FGFR3
78.6TTR, APOA1, CST3, FGFR3, B2M
88.5VWF, IL3, CSF3, FGFR3
9
Show member pathways
8.5B2M, TTR, APOA1, CST3, CD40LG
10
Show member pathways
8.3VWF, F10, APOA1, SERPINC1, CLU

Compounds for genes affiliated with Al Amyloidosis

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Compounds related to Al Amyloidosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 228)
idCompoundScoreTop Affiliating Genes
1silicone449.1CD40LG, SERPINC1, F10, CD79A
2captopril44 60 50 28 1112.9B2M, APOA1, NPPB, CD79A, ADM, CST3
3polyethylene glycol448.9SERPINC1, F10, CD40LG, CST3, APOA1, CD79A
4ppack448.8VWF, F10, SERPINC1, CD40LG
5melphalan44 50 1110.8FGFR3, CSF3, IL3, TTR, CD79A
6uric acid44 249.7CST3, APOA1, TTR, B2M, NPPB
7gamma globulin448.7VWF, CD40LG, CD79A, B2M
8kininogen448.7VWF, CST3, SERPINC1, CLU, APOA1
9tirofiban44 119.6F10, NPPB, CD40LG, SERPINC1, VWF
10neopterin448.5CD40LG, CD79A, IL3, TTR, B2M
11abciximab44 119.5F10, SERPINC1, CD40LG, VWF
12aprotinin44 119.4F10, CTSK, NPPB, VWF, CST3, SERPINC1
13indomethacin44 28 60 1111.4CD79A, NPPB, ADM, APOA1, B2M, CD40LG
14prostacyclin448.3VWF, APOA1, ADM, SERPINC1, IL3, NPPB
15pge2448.2APOA1, ADM, NPPB, CD79A, CD40LG, SERPINC1
16doxorubicin44 50 1110.0CLU, FGFR3, CD40LG, NPPB, B2M, CSF3
17histamine44 28 2410.0F10, IL3, CD40LG, CD79A, NPPB, VWF
18rituximab44 50 1110.0CD79A, CSF3, MS4A1, B2M, VWF, CD40LG
19cyclophosphamide44 50 119.9NPPB, CSF3, IL3, MS4A1, B2M, VWF
20n acetylcysteine447.9CD40LG, SERPINC1, IL3, VWF, CD79A, CLU
21vitamin a44 24 119.9CD40LG, TTR, B2M, CST3, VWF, APOA1
22acetylcholine44 50 28 24 1111.8VWF, F10, APOA1, ADM, IL3, NPPB
23vitamin b12447.8TTR, VWF, APOA1, B2M, CD40LG, CD79A
24polysaccharide447.8CLU, SERPINC1, B2M, CST3, F10, CD79A
25homocysteine44 248.8SERPINC1, CLU, ADM, CST3, NPPB, VWF
26cisplatin44 50 60 1110.8F10, CLU, IL3, B2M, CD40LG, CST3
27epinephrine44 24 119.8CD40LG, VWF, TTR, ADM, CSF3, NPPB
28thyroxine44 248.7B2M, VWF, TTR, APOA1, NPPB, CD79A
29biotin44 24 119.7CD40LG, VWF, CD79A, F10, B2M
30aspirin44 50 28 2410.6TTR, VWF, F10, CD40LG, CD79A, NPPB
31heparin44 28 24 1110.5CD40LG, CD79A, VWF, SERPINC1, CLU, F10
32glutamate447.4TTR, CLU, F10, VWF, APOA1, CD79A
33ascorbic acid44 248.4F10, TTR, IL3, SERPINC1, APOA1, VWF
34aspartate447.4CD40LG, CST3, APOA1, B2M, CTSK, TTR
35fibrinogen447.3TTR, APOA1, VWF, F10, CD40LG, CD79A
36paraffin447.2FGFR3, B2M, TTR, VWF, CLU, ADM
37folate447.2CD40LG, CD79A, CLU, SERPINC1, TTR, B2M
38adenylate447.2F10, TTR, SERPINC1, ADM, VWF, IL3
39arginine447.0TTR, VWF, SERPINC1, ADM, FGFR3, CST3
40cyclosporin a44 28 608.5CST3, IL3, ADM, TTR, B2M, VWF
41creatinine446.4VWF, B2M, TTR, APOA1, SERPINC1, ADM
42testosterone44 60 24 119.3CLU, CD40LG, CD79A, NPPB, IL3, ADM
43alanine446.3IL3, TTR, F10, SERPINC1, ADM, B2M
44retinoic acid44 247.3VWF, CTSK, CD79A, ADM, IL3, TTR
45lactate446.2VWF, CD40LG, CD79A, F10, CLU, APOA1
46vegf446.1B2M, F10, SERPINC1, CLU, ADM, CST3
47estrogen446.0SERPINC1, VWF, B2M, F10, CD40LG, NPPB
48dexamethasone44 50 28 119.0IL3, ADM, CLU, SERPINC1, TTR, VWF
49cysteine446.0CD40LG, CTSK, FGFR3, NPPB, CST3, IL3
50serine445.8CLU, SERPINC1, APOA1, TTR, F10, B2M

GO Terms for genes affiliated with Al Amyloidosis

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

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.9APOA1, CLU
2blood microparticleGO:00725629.4CLU, SERPINC1, APOA1
3endoplasmic reticulum lumenGO:00057889.3APOA1, F10, B2M
4external side of plasma membraneGO:00098978.2VWF, B2M, MS4A1, CD79A, CD40LG
5extracellular vesicular exosomeGO:00700627.7VWF, B2M, APOA1, CLU, MS4A1, CST3
6extracellular spaceGO:00056155.9CTSK, B2M, TTR, APOA1, SERPINC1, CLU
7extracellular regionGO:00055765.6APOA1, TTR, F10, B2M, VWF, SERPINC1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1reverse cholesterol transportGO:00436919.8APOA1, CLU
2B cell proliferationGO:00421009.7CD40LG, CD79A, MS4A1
3blood coagulation, intrinsic pathwayGO:00075979.3F10, VWF
4platelet degranulationGO:00025769.1CLU, APOA1, VWF
5platelet activationGO:00301688.8VWF, APOA1, CLU, CD40LG
6positive regulation of cell proliferationGO:00082848.8FGFR3, CSF3, IL3, ADM
7blood coagulationGO:00075968.4VWF, F10, APOA1, SERPINC1, CLU

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

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:000154010.0CST3, APOA1
2hormone activityGO:00051799.5TTR, ADM, NPPB
3protease bindingGO:00020209.0CST3, SERPINC1, VWF
4cytokine activityGO:00051258.9CD40LG, CSF3, IL3
5identical protein bindingGO:00428028.2VWF, B2M, TTR, APOA1
6protein bindingGO:00055156.4VWF, B2M, F10, TTR, APOA1, SERPINC1

Sources for Al Amyloidosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet