Details of Disease

General Information of Disease (ID: DISMHVSL)

• Disease Name: Al amyloidosis
• Synonyms: amyloidosis primary systemic; primary AL amyloidosis; primary systemic AL amyloidosis; systemic AL amyloidsis; amyloidosis AL; primary systemic amyloidosis; Light chain amyloidosis; Light-chain amyloidosis; primary amyloidosis
• Disease Class: 5D00: Amyloidosis
• Definition: AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.
• Disease Hierarchy:
  DISB4MLC: Acquired metabolic disease
  DISHTAI2: Amyloidosis
  DIS81H97: Non-familial restrictive cardiomyopathy
  DISSGP35: Non-familial hypertrophic cardiomyopathy
  DISCFBRD: Neurological disorder
  DISMHVSL: Al amyloidosis
• ICD Code: ICD-11: ICD-11: 5D00.0
• Disease Identifiers:
  MONDO ID: MONDO_0019438
  MESH ID: D000075363
  UMLS CUI: C0268381
  MedGen ID: 75674
  Orphanet ID: 85443
  SNOMED CT ID: 23132008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anselamimab	DMP21OH	Phase 3	Monoclonal antibody	[1]
Birtamimab	DM46QU4	Phase 3	Monoclonal antibody	[2]
CAEL-101	DMXDU23	Phase 3	Antibody	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CBX7	TTBN3HC	Limited	Genetic Variation	[3]
NPPB	TTY63XT	Limited	Biomarker	[4]
TTR	TTPOYU7	Limited	Biomarker	[5]
CD38	TTPURFN	Strong	Biomarker	[6]
CDA	TTQ12RK	Strong	Altered Expression	[7]
GLIPR1	TTEQF1O	Strong	Biomarker	[8]
MAGEC2	TTKGUEB	Strong	Biomarker	[9]
SCT	TTOBVIN	Definitive	Biomarker	[10]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC1A4	DTC54PX	Strong	Biomarker	[11]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAH11	OT6IYFVV	Limited	Genetic Variation	[3]
SMARCD3	OTLLG86W	Limited	Genetic Variation	[3]
DDT	OTF5HTYL	Strong	Biomarker	[12]
LGALS4	OTKQCG0H	Strong	Altered Expression	[13]
PFDN5	OTTKPTUP	Strong	Biomarker	[14]
PLXNB2	OT56I2VD	Strong	Biomarker	[14]
RPS27A	OTIIGGZ2	Strong	Altered Expression	[15]

References

• [1] ClinicalTrials.gov (NCT04504825) A Phase 3, Double-Blind, Multicenter Study to Evaluate the Efficacy and Safety of CAEL-101 and Plasma Cell Dyscrasia Treatment Versus Placebo and Plasma Cell Dyscrasia Treatment in Plasma Cell Dyscrasia Treatment Na?ve Patients With Mayo Stage IIIb AL Amyloidosis. U.S.National Institutes of Health.
• [2] ClinicalTrials.gov (NCT04973137) A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Birtamimab Plus Standard of Care vs. Placebo Plus Standard of Care in Mayo Stage IV Subjects With Light Chain (AL) Amyloidosis. U.S.National Institutes of Health.
• [3] Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.Leukemia. 2017 Aug;31(8):1735-1742. doi: 10.1038/leu.2016.387. Epub 2016 Dec 27.
• [4] Establishment of brain natriuretic peptide - based criteria for evaluating cardiac response to treatment in light chain (AL) amyloidosis.Br J Haematol. 2020 Feb;188(3):424-427. doi: 10.1111/bjh.16198. Epub 2019 Sep 13.
• [5] Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review.JAMA Neurol. 2019 Oct 1;76(10):1240-1251. doi: 10.1001/jamaneurol.2019.2917.
• [6] Daratumumab for the treatment of AL amyloidosis.Leuk Lymphoma. 2019 Feb;60(2):295-301. doi: 10.1080/10428194.2018.1485914. Epub 2018 Jul 22.
• [7] CDA gene silencing regulated the proliferation and apoptosis of chronic myeloid leukemia K562 cells.Cancer Cell Int. 2018 Jul 9;18:96. doi: 10.1186/s12935-018-0587-y. eCollection 2018.
• [8] Phenotypic, transcriptomic, and genomic features of clonal plasma cells in light-chain amyloidosis.Blood. 2016 Jun 16;127(24):3035-9. doi: 10.1182/blood-2015-10-673095. Epub 2016 Apr 11.
• [9] MAGE genes: Prognostic indicators in AL amyloidosis patients.J Cell Mol Med. 2019 Aug;23(8):5672-5678. doi: 10.1111/jcmm.14475. Epub 2019 Jun 20.
• [10] High-dose melphalan and autologous peripheral blood stem cell transplantation in patients with AL amyloidosis and cardiac defibrillators.Bone Marrow Transplant. 2019 Aug;54(8):1304-1309. doi: 10.1038/s41409-019-0440-5. Epub 2019 Jan 21.
• [11] Delayed autologous stem cell transplantation following cardiac transplantation experience in patients with cardiac amyloidosis.Am J Transplant. 2019 Oct;19(10):2900-2909. doi: 10.1111/ajt.15487. Epub 2019 Jul 1.
• [12] Optimal conditions and the advantages of using laser microdissection and liquid chromatography tandem mass spectrometry for diagnosing renal amyloidosis.Clin Exp Nephrol. 2018 Aug;22(4):871-880. doi: 10.1007/s10157-018-1533-y. Epub 2018 Jan 25.
• [13] Zebrafish model of amyloid light chain cardiotoxicity: regeneration versus degeneration.Am J Physiol Heart Circ Physiol. 2019 May 1;316(5):H1158-H1166. doi: 10.1152/ajpheart.00788.2018. Epub 2019 Mar 15.
• [14] Hyperdiploidy is less frequent in AL amyloidosis compared with monoclonal gammopathy of undetermined significance and inversely associated with translocation t(11;14).Blood. 2011 Apr 7;117(14):3809-15. doi: 10.1182/blood-2010-02-268987. Epub 2011 Feb 10.
• [15] RPS27a promotes proliferation, regulates cell cycle progression and inhibits apoptosis of leukemia cells.Biochem Biophys Res Commun. 2014 Apr 18;446(4):1204-10. doi: 10.1016/j.bbrc.2014.03.086. Epub 2014 Mar 26.