Details of Disease

General Information of Disease (ID: DISO3MC0)

Disease Name	Paget's disease
Synonyms	Paget cell neoplasm; Paget's disease; Paget disease; Paget's cell neoplasm
Disease Class	FB85: Bone paget disease
Definition	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.
Disease Hierarchy	DIS3IHTY: Adenocarcinoma DISO3MC0: Paget's disease
ICD Code	ICD-11 ICD-11: FB85
Disease Identifiers	MONDO ID MONDO_0021165 UMLS CUI C1368019 MedGen ID 277958

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Alendronate	DMY2KX9	Approved	Small molecular drug	[1]
Calcitonin Human	DM0N9WA	Approved	NA	[2]
Etidronic acid	DM1XHYJ	Approved	Small molecular drug	[3]
Risedronate	DM5FLTY	Approved	Small molecular drug	[4]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KHDRBS1	TTAT6C7	Limited	Biomarker	[5]
PML	TTLH9NY	moderate	Genetic Variation	[6]
SQSTM1	TTOT2RY	moderate	Biomarker	[7]
TAF2	TTHMP8B	Strong	Altered Expression	[8]
TNFRSF11A	TT3K9S2	Strong	Altered Expression	[9]
VCP	TTHNLSB	Strong	Genetic Variation	[10]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NUP62	OTMN63DH	Limited	Biomarker	[5]
OPTN	OT2UXWH9	Limited	Genetic Variation	[11]
DCTN4	OTM7C943	Disputed	Biomarker	[5]
GTF2H1	OTCRXC6B	Disputed	Biomarker	[5]
KRT7	OTLT3JFN	Disputed	Altered Expression	[12]
DCSTAMP	OTFKRP2H	moderate	Genetic Variation	[6]
DPYS	OTLTUIVL	moderate	Genetic Variation	[6]
NUP205	OTJKHCY6	moderate	Genetic Variation	[6]
PIGN	OTHHTJKX	moderate	Genetic Variation	[13]
SLC25A43	OTY6MWVD	moderate	Genetic Variation	[6]
ATF7	OTM8T3OD	Strong	Biomarker	[14]
RIN3	OT5Z6F8O	Strong	Genetic Variation	[15]
TRIP6	OTIPA4ZR	Strong	Biomarker	[16]
------------------------------------------------------------------------------------


⏷ Show the Full List of 13 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 3141).
2	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
3	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7184).
4	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 3176).
5	p62/sequestosome 1 deficiency accelerates osteoclastogenesis in vitro and leads to Paget's disease-like bone phenotypes in mice.J Biol Chem. 2018 Jun 15;293(24):9530-9541. doi: 10.1074/jbc.RA118.002449. Epub 2018 Mar 19.
6	Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845.
7	Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.J Bone Miner Metab. 2019 Mar;37(2):378-383. doi: 10.1007/s00774-018-0932-1. Epub 2018 Jun 14.
8	Experimental models of Paget's disease.J Bone Miner Res. 2006 Dec;21 Suppl 2:P55-7. doi: 10.1359/jbmr.06s210.
9	A nonsynonymous TNFRSF11A variation increases NFB activity and the severity of Paget's disease.J Bone Miner Res. 2012 Feb;27(2):443-52. doi: 10.1002/jbmr.542.
10	Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.J Clin Neurosci. 2019 Jun;64:8-10. doi: 10.1016/j.jocn.2019.03.063. Epub 2019 Apr 4.
11	Global deletion of Optineurin results in altered type I IFN signaling and abnormal bone remodeling in a model of Paget's disease.Cell Death Differ. 2020 Jan;27(1):71-84. doi: 10.1038/s41418-019-0341-6. Epub 2019 May 10.
12	Paget's disease of the nipple in a Her2-positive breast cancer xenograft model.Breast Cancer Res Treat. 2020 Feb;179(3):577-584. doi: 10.1007/s10549-019-05490-8. Epub 2019 Nov 13.
13	Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562. Epub 2010 May 2.
14	Role of ATF7-TAF12 interactions in the vitamin D response hypersensitivity of osteoclast precursors in Paget's disease.J Bone Miner Res. 2013 Jun;28(6):1489-500. doi: 10.1002/jbmr.1884.
15	Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.Hum Mol Genet. 2015 Jun 1;24(11):3286-95. doi: 10.1093/hmg/ddv068. Epub 2015 Feb 20.
16	Osteoclast inhibitory peptide-1 (OIP-1) inhibits measles virus nucleocapsid protein stimulated osteoclast formation/activity.J Cell Biochem. 2008 Jul 1;104(4):1500-8. doi: 10.1002/jcb.21723.