Details of Disease

Disease Name

Primary systemic amyloidosis

systemic Immunoglobulin Light chain amyloidosis; systemic amyloidosis; systemic AL amyloidosis

Definition

Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.

Disease Hierarchy

DISMHVSL: Al amyloidosis

DISIALGI: Primary systemic amyloidosis

Disease Identifiers

MONDO ID

MONDO_0017816

UMLS CUI

C0281479

MedGen ID

129028

Orphanet ID

314701

General Information of Disease (ID: DISIALGI)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Doxorubicin	DMVP5YE	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA2	TTGQA9W	moderate	Genetic Variation	[2]
APOA4	TTNC3WS	moderate	Biomarker	[3]
TTR	TTPOYU7	moderate	Genetic Variation	[4]
LYZ	TTAOZBW	Strong	Genetic Variation	[5]
APCS	TTB7VAT	Definitive	Biomarker	[6]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGSF3	OT6GWBAF	moderate	Biomarker	[7]
LECT2	OTSFZ9JD	moderate	Biomarker	[8]
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References

1	Doxorubicin FDA Label
2	A transgenic mouse model reproduces human hereditary systemic amyloidosis.Kidney Int. 2019 Sep;96(3):628-641. doi: 10.1016/j.kint.2019.03.013. Epub 2019 Mar 28.
3	Two different types of amyloid deposits--apolipoprotein A-IV and transthyretin--in a patient with systemic amyloidosis.Lab Invest. 2004 Aug;84(8):981-8. doi: 10.1038/labinvest.3700124.
4	Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: A systematic review and meta-analysis.Hellenic J Cardiol. 2019 Nov-Dec;60(6):375-383. doi: 10.1016/j.hjc.2019.01.015. Epub 2019 Feb 8.
5	Analysis of the native structure, stability and aggregation of biotinylated human lysozyme.PLoS One. 2012;7(11):e50192. doi: 10.1371/journal.pone.0050192. Epub 2012 Nov 16.
6	Repeat doses of antibody to serum amyloid P component clear amyloid deposits in patients with systemic amyloidosis.Sci Transl Med. 2018 Jan 3;10(422):eaan3128. doi: 10.1126/scitranslmed.aan3128.
7	Epidemiological and clinical characteristics and outcome of monoclonal gammopathy of renal significance-related lesions in Latin America.Nephrology (Carlton). 2020 Jun;25(6):442-449. doi: 10.1111/nep.13685. Epub 2019 Dec 19.
8	Mixed leukocyte cell-derived chemotaxin 2 and amyloid A renal amyloidosis in a Kazakh-German patient.Clin Kidney J. 2017 Apr;10(2):266-268. doi: 10.1093/ckj/sfw147. Epub 2017 Feb 3.